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Page 1: CURRICULUM VITAE David P. Bick, MD...CURRICULUM VITAE David P. Bick, MD OFFICE ADDRESS: The Smith Clinic for Genomic Medicine, LLC 701 McMillian Way NW, Ste A Huntsville, AL 35806

CURRICULUM VITAE

David P. Bick, MD

OFFICE ADDRESS:

The Smith Clinic for Genomic Medicine, LLC

701 McMillian Way NW, Ste A

Huntsville, AL 35806

EDUCATION:

8/1973-5/1977 AB, Cornell University, Ithaca, NY

8/1977-5/1981 MD, George Washington University School of Medicine, Washington, DC

POSTGRADUATE TRAINING AND FELLOWSHIP APPOINTMENTS:

7/1981-7/1982 Intern in Pediatrics, Yale New Haven Hospital, New Haven, CT

7/1982-7/1984 Resident in Pediatrics, Yale New Haven Hospital, New Haven, CT

7/1984-7/1986 Fellow, Department of Human Genetics, Human Genetics and Pediatrics, Yale School of

Medicine, New Haven, CT

7/1986-7/1987 Postdoctoral Research Fellow, Department of Human Genetics, Yale University School of

Medicine, New Haven, CT

FACULTY APPOINTMENTS:

7/1987-7/1989 Assistant Professor, Pediatrics, and Cellular and Structural Biology, University of Texas

Health Science Center, San Antonio, TX 9/1989-12/2001 Clinical Geneticist, Genetics and IVF Institute, Fairfax, VA

7/1991-12/2001 Affiliate Assistant Professor, Department of Human Genetics, School of Medicine, Medical

College of Virginia, Richmond, VA

7/1996-12/2001 Clinical Assistant Professor, School of Medicine, University of Virginia Health Sciences

Center, Charlottesville, VA

1/2002-7/2008 Associate Professor, Department of Pediatrics, Division of Medical Genetics, Medical

College of Wisconsin, Milwaukee, WI

10/2004-7/2008 Associate Professor, Department of Obstetrics & Gynecology, Medical College of

Wisconsin, Milwaukee, WI

7/2008-7/2015 Professor, Departments of Pediatrics and Obstetrics & Gynecology, Medical College of

Wisconsin, Milwaukee, WI

8/2015-6/2018 Clinical Professor, Department of Pediatrics, Medical College of Wisconsin,

Milwaukee, WI

9/2015-present Faculty Investigator, HudsonAlpha Institute for Biotechnology, Huntsville, AL

11/2015-present Volunteer Adjunct Professor, Department of Genetics, University of Alabama at

Birmingham, Birmingham, AL

ADMINISTRATIVE APPOINTMENTS:

5/1999-12/2001 President & CEO, Genetics & IVF Institute, Fairfax, VA

4/2008-1/2011 Interim Chief of Division of Genetics, Department of Pediatrics, Medical College of

Wisconsin, Milwaukee, WI

1/2011-7/2015 Section Chief, Department of Pediatrics, Division of Genetics, Medical College of

Wisconsin, Milwaukee, WI

9/2015-present Medical Director, Smith Family Clinic for Genomic Medicine, Huntsville, AL

9/2015-present Chief Medical Officer and Faculty Investigator, HudsonAlpha Institute for Biotechnology,

Huntsville, AL

9/2015-present Associate Director, Clinical Services Laboratory, HudsonAlpha Institute for

Biotechnology, Huntsville, AL

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Dr. David Bick

June 30, 2020

Page 2

HOSPITAL AND CLINICAL ADMINISTRATIVE APPOINTMENTS:

5/2009-7/2015 Director, Advanced Genomics Laboratory, Department of Pediatrics, Medical College of

Wisconsin, Milwaukee, WI

2//2012-7/2015 Medical Director, Genetics Clinic, Children's Hospital of Wisconsin, Milwaukee, WI

HOSPITAL STAFF PRIVILEGES:

1/2016-5/2020 Huntsville Hospital, 101 Sivley Rd S.W., Huntsville, AL 35801

SPECIALTY BOARDS AND CERTIFICATION:

Board Certified Issue Date Expiration

National Board of Medical Examiners 7/1/1982 None

American Board of Pediatrics 3/23/1986 None

American Board of Medical Genetics, Clinical

Genetics

9/15/1987 None

American Board of Medical Genetics, Clinical

Molecular Genetics

9/24/1993 12/31/2020

Licensure Number Issue Date Expiration

Alabama

Tennessee

Wisconsin

DEA Alabama

DEA Wisconsin

ACSC

MD.34482

54736

43761-020

FB5737448

AB2620335

ACSC34482

8/31/2015

9/26/2016

10/31/2013

6/14/2018

6/19/2015

1/1/2017

12/31/2020

5/31/2021

10/31/2021

7/31/2021

7/31/2021

12/31/2020

New York State Laboratory Department of Health Clinical Laboratory Evaluation Program Certificate of

Qualification

Number Issue Date Expiration

BICKD1 09/2003 09/2021

AWARDS AND HONORS:

5/1981 Alpha Omega Alpha Medical Honor Society

6/2006 Clinical Scholarship Award, Medical College of Wisconsin, Department of Pediatrics Clinical

Physician

8/2009 Outstanding Faculty Service Award, Medical College of Wisconsin

2009 Best Doctors in America

2009 Outstanding Medical Student Teachers, Medical College of Wisconsin

2010 Outstanding Medical Student Teachers, Medical College of Wisconsin

2010 Best Doctors in America

2011 Faculty Service Award, Medical College of Wisconsin

2011 Best Doctors in America

2012 Best Doctors in America

2013 Best Doctors in America

2014 Best Doctors in America

2017 Castle Connolly Top Doctor

2018 Castle Connolly Top Doctor

2019 Castle Connolly Top Doctor

2020 Castle Connolly Top Doctor

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MEMBERSHIPS IN HONORARY AND PROFESSIONAL SOCIETIES:

American College of Medical Genetics (Founding Fellow)

American Society of Human Genetics (Member)

American Academy of Pediatrics (Fellow)

EDITORSHIPS/EDITORIAL BOARDS/JOURNAL REVIEWS:

Journal Review

American Journal of Human Genetics

Pediatric Dermatology Journal

Journal of Assisted Reproduction and Genetics

LOCAL/REGIONAL APPOINTED LEADERSHIP AND COMMITTEE POSITIONS:

3/1/2006-6/2015 Advisory Committee, Wisconsin Genetics System

NATIONAL AND INTERNATIONAL ELECTED/APPOINTED LEADERSHIP AND COMMITTEE

POSITIONS:

2010-2013 Member, Organizing Committee, Next Generation Sequencing – Standardization of

Clinical Testing (NEx-StoCT) Conferences

2013-2015 Member, ACMG Interpretation of Sequence Variants Workgroup, American College of

Medical Genetics and Genomics and ACMG Foundation for Genetic and Genomic

Medicine

2018-2019 Member, New Born Genomics Task and Finish Group convened at the request of the

National Genomics Board of the UK

2019 Member, Genomic Volunteers Task and Finish Group convened at the request of the

National Genomics Board of the UK

2013-present Member, Scientific Advisory Committee, Genomics England, United Kingdom

2016-present Member, ACMG NGS Best Practice Workgroup, American College of Medical Genetics

and Genomics

2018-present Alabama Rare Disease Advisory Council

2019-present Member, ACMG Revision to Interpreting Sequence Variation Workgroup, American

College of Medical Genetics and Genomics

INVITED LECTURES/WORKSHOPS/PRESENTATIONS:

1. Preimplantation Genetic Diagnosis, Pediatric Grand Rounds, Children’s Hospital of Wisconsin,

Milwaukee, WI, 3/1/2002

2. Preimplantation Genetic Diagnosis, Perinatal Assessment Center, Memorial Hospital of Burlington,

Burlington, WI, 4/15/2002

3. The Science and Ethics of Pre-implantation Genetic Diagnosis, Milwaukee Biotechnology Interest

Group, Alumni Center, Medical College of Wisconsin, Milwaukee, WI, 4/29/2002

4. Preimplantation Genetic Diagnosis, Grand Rounds, Department of Obstetrics and Gynecology,

Medical College of Wisconsin, Milwaukee, WI, 5/8/2002

5. Genes and Neurodevelopment Disorders, Pediatric Grand Rounds, St. Luke’s Hospital, Racine, WI,

12/10/2002

6. Options for Patients with a Family History of a Genetic Disease, Resident Lecture, St. Michael

Hospital, Family Care Center, Milwaukee, WI, 1/7/2003

7. Genes and Neurodevelopmental Disabilities, Pediatric Grand Rounds, Children’s Hospital of

Wisconsin, Milwaukee, WI, 6/6/2003

8. Preimplantation Genetic Diagnosis, Perinatal Case Review Conference, Waukesha Memorial Hospital,

Waukesha, WI, 1/23/2003

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9. Genetics in 2003, St. Mary’s Hospital, Resident Lecture, Milwaukee, WI, 2/5/2003

10. Molecular Genetic Approach to Neurodevelopmental Disabilities, Wisconsin Genetics Exchange,

Children’s Hospital of Wisconsin, Milwaukee, WI, 2/28/2003

11. Genes and Neurodevelopment Disorders, Saint Therese Medical Center, Waukegan, IL, 3/14/2003

12. Preimplantation Genetic Testing, Children’s Hospital of Wisconsin-Kenosha, Kenosha, WI, 5/7/2003

13. Recent Advances in the Genetics of Neurodevelopmental Disabilities, Grand Rounds, Children’s

Hospital of Wisconsin Fox Valley, 5/14/2003

14. Preimplantation Genetic Testing, Children’s Hospital of Wisconsin, Pediatric Surgeon Fellowship

Rounds, Milwaukee, WI, 8/1/2003

15. Preimplantation Genetic Diagnosis, Aurora Healthcare, Women’s Pavilion Presentation, Milwaukee,

WI, 9/2/2003

16. Molecular Genetic Approach to Neurodevelopmental Disabilities, Medical College of Wisconsin,

Department of Neurology/Neuropsychiatry Noon Conference, Milwaukee, WI, 9/16/2003

17. Prenatal and Preconception Options for Couples with a History of Genetic Disorder, Pediatric Noon

Conference, Medical College of Wisconsin, Department of Pediatrics, Milwaukee, WI, 10/10/2003

18. F. Jackson Stoddard Memorial Lecture: A Practical Approach to Genetic Screening, Milwaukee

Gynecological Society, Milwaukee, WI, 2/3/2004

19. Personalized Medicine, St. Mary’s Hospital, Grand Rounds, Milwaukee, WI, 2/4/2004

20. Genetics for the Obstetrician and Gynecologist, St. Mary’s Hospital, Resident Lecture, Milwaukee,

WI, 4/7/2004

21. Personalized Medicine, Pediatric Grand Rounds, Children’s Hospital of Wisconsin, Milwaukee, WI,

7/30/2004

22. Updates in Prenatal Genetics, 2004 Pediatric Grand Rounds, St. Therese Medical Center, Waukegan,

IL, 8/13/2004

23. Updates in Prenatal Genetics, Kenosha Hospital Medical Center, Kenosha, WI, 5/5/2004

24. Preimplantation Genetics: Diagnoses and Treatment, American College of Obstetricians &

Gynecologists and Wisconsin Society of Obstetrics & Gynecology 2004 Annual Meeting, Wisconsin

Dells, WI, 7/24/2004

25. Reproductive Options for Patients with Fragile X Syndrome, Medical Ethics Committee, Aurora

Sheboygan Memorial Hospital, 11/17/2004

26. Updates in Prenatal Genetics, Continuing Medical Education Program, Waukesha Memorial Hospital,

Waukesha, WI, 1/4/2005

27. Updates in Prenatal Genetics, Resident Noon Conference, Children’s Hospital of Wisconsin,

Milwaukee, WI, 2/18/2005

28. Skeletal Dysplasia, Orthopedic Resident Noon Conference, Children’s Hospital of Wisconsin,

Milwaukee, WI, 3/16/2005

29. Indications for Preimplantation Genetic Diagnosis (PGD), Grand Rounds, Department of Obstetrics

and Gynecology, Medical College of Wisconsin, Milwaukee, WI, 3/30/2005

30. Personalized Medicine, Waukesha Memorial Hospital, 8/2/2005

31. Infertility and Genetics: What the Healthcare Provider Should Know, Reproductive Medicine

Symposium: Building Families Through Teamwork and Technology, Waukesha, WI, 9/23/2005

32. Preimplantation Genetic Diagnosis in 2005, Wisconsin Genetics Exchange, Children’s Hospital of

Wisconsin, Milwaukee, WI, 10/14/2005

33. Preimplantation Genetic Diagnosis in 2006, Pediatric Grand Rounds, Children’s Hospital of

Wisconsin, Milwaukee, WI, 1/20/2006

34. Infertility and Genetics: What the Healthcare Provider Should Know, Midwest Infertility Nurse’s

Council, Sheboygan, WI, 2/2/2006

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35. Cardiology and Genetics, Cardiology Fellow Grand Rounds, Froedtert Memorial Lutheran Hospital,

Milwaukee, WI, 4/13/2006

36. Prenatal Genetics for the Pediatrician, Noon Conferences for Pediatric Residents, Children’s Hospital

of Wisconsin, Milwaukee, WI, 4/13/2006

37. Genetic Testing: Overview of Your Options, Froedtert Hospital Community Education Class,

Milwaukee, WI, 5/22/2006

38. When should you offer preimplantation genetic diagnosis to your patients?, Second Annual

Reproductive Medicine Symposium: Building Families Through Teamwork and Technology,

Waukesha, WI, 9/29/2006

39. Genetics in clinical investigation: Bedside to Bench and back!, Genetics Seminar Series, General

Clinical Research Center, Medical College of Wisconsin, Milwaukee, WI, 10/17/2006

40. Use of multiplex amplifiable probe hybridization to detect the etiology of mental retardation, Human

Molecular Genetics Center Seminar, Medical College of Wisconsin, Milwaukee, WI, 10/19/2006

41. Indications for preimplantation genetic diagnosis, 31st Annual Perinatal Day, Fox Valley Perinatal

Association, Appleton, WI, 11/1/2006

42. Genetics in 2007: What practitioners need to know about cystic fibrosis and other genetic disorders,

Waukesha Memorial Hospital, Grand Rounds, Waukesha, WI, 3/13/2007

43. Genetic Disorders with Orthopedic manifestations, Orthopedic Residents, Children’s Hospital of

Wisconsin, Milwaukee, WI, 4/11/2007

44. Preimplantation Genetic Diagnosis (PGD), Blood Center of Wisconsin, Milwaukee, WI, 5/29/2007

45. Personalized Medicine, Columbia St. Mary's Hospital, Milwaukee, WI, 6/5/2007

46. Genetic Screening in 2007: What Should I Offer to My Patients?, Lake Forest Outpatient and Acute

Care Center, Grand Rounds, Grayslake, IL, 8/10/2007

47. Personalized Medicine in Pediatrics, Young Presidents Organization, Children’s Hospital of

Wisconsin, Milwaukee, WI, 10/2/2007

48. Personalized Medicine, Primary Care Conference, St. Mary's Hospital, Madison, WI, 10/3/2007

49. Etiology of Proteus Syndrome, CRI Noon Academic Conference, Children’s Hospital of Wisconsin,

Milwaukee, WI, 10/5/2007

50. Etiology of Proteus Syndrome, Human Molecular Genetics Center Seminar Series, Medical College of

Wisconsin, Milwaukee, WI, 1/17/2008

51. Personalized Medicine and Pharmacogenetics, Cardiac Research Focus Group Meeting, Children’s

Hospital of Wisconsin, Milwaukee, WI, 2/12/2008

52. Genetic Screening in 2008: What Should I Offer to My Patients?, Practices in Pediatrics Conference,

Wisconsin Dells, WI, 3/7/2008

53. Personalized Medicine, Medical-Surgical Conference, Beloit Memorial Hospital, Beloit, WI,

4/16/2008

54. Pre-Implantation Genetic Diagnosis (PGD) 2008: What’s New, Children’s Hospital of Wisconsin

Pediatrics Grand Rounds, Milwaukee, WI, 8/22/2008

55. Genetic Screening and Testing, Editor’s Choice Conference, Rzeszow, Poland, 6/13/2008

56. Ambiguous Genitalia (Disorders of Sex Development), Editor’s Choice Conference, Rzeszow, Poland,

6/14/2008

57. Genetic Screening in 2008: What Should I Offer to My Patients?, Children’s Hospital of Wisconsin

Fox Valley, Grand Rounds, 9/10/2008

58. Personalized Medicine, Case Management Society of America 8th Annual CMSA Conference,

Waukesha, WI, 9/24/2008

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59. Testing for Copy Number Changes Using the Affymetrix 6.0 Array in Patients with

Neurodevelopmental Disabilities and Dysmorphology, Medical College of Wisconsin, Human

Molecular Genetics Center, Milwaukee, WI, 12/18/2008

60. Genetic Disorders with Orthopaedic Manifestations, MCW Basic Science Lecture Series, Children’s

Hospital of Wisconsin, Milwaukee, WI, 3/18/2009

61. Genetic Screening in 2009: What Should I Offer to My Patients?, Waukesha Memorial Hospital All-

Staff Conference, Waukesha, WI, 8/4/2009

62. Use of Affymetrix DNA Microarray in the Genetic Clinic, Wisconsin Genetics Exchange, Children’s

Hospital of Wisconsin, Milwaukee, WI, 10/9/2009

63. Use of Affymetrix Genome-Wide Human SNP Array 6.0 in the clinic, Human and Molecular Genetics

Center Lecture, Medical College of Wisconsin, Milwaukee, WI, 11/19/2009

64. Use of Affymetrix Genome-Wide Human SNP Array 6.0 in the clinic, NICU CME Conference,

Children’s Hospital of Wisconsin, Milwaukee, WI, 1/5/2010

65. Preimplantation Genetic Diagnosis, MCW Technology Innovation Council, Medical College of

Wisconsin, Milwaukee, WI, 1/19/2010

66. Clinical use of DNA Microarray to Diagnose Patients with Birth Defects and Neurodevelopmental

Disorders, Grand Rounds, Children’s Hospital of Wisconsin, Milwaukee, WI, 1/29/2010

67. Use of Affymetrix Genome-Wide Human SNP Array 6.0 in the Clinic, Pediatrics Academic Noon

Conference, Children’s Hospital of Wisconsin, Milwaukee, WI, 3/19/2010

68. Genetic Screening 2010: What should I offer to my patients?, Resident Noon Conference, Children’s

Hospital of Wisconsin, Milwaukee, WI, 4/20/2010

69. Use of Affymetric Genome-Wide Human SNP Array 6.0 in clinical neurological care, Neurology

Conference, Children’s Hospital of Wisconsin, Milwaukee, WI, 5/21/2010

70. Whole Genome Sequencing in the Diagnosis of Mendelian Genetic Disorders, CAP-Illumina Meeting,

Boston, MA, 10/19/2010

71. Genetic Screening: What Should I Offer to My Patients?, Annual Ethics Week Lecture Series, United

Healthcare System, Kenosha Medical Center, Kenosha, WI, 10/27/2010

72. Practical Pediatrics Webcast: Genetic Screening: What Should I Offer to My Patients?, Children’s

Hospital of Wisconsin Internet, Milwaukee, WI, 4/18/2011

73. Whole Genome Sequencing: Helping Children Today, Annual Spring Estate Planning Seminar IX for

Professionals, Children’s Hospital of Wisconsin, Milwaukee, WI, 5/17/2011

74. Whole Genome Sequencing: Helping Children Today, Annual Joint CHHSF Planned Giving Council,

Milwaukee, WI, 6/21/2011

75. MCW/CHW Whole Genome Sequencing Program, Genomic Medicine Institute's Colloquium Clinical

Implementation of Genomic Discoveries, Chicago, IL, 6/29/2011

76. Using Whole Genome Sequencing in Clinical Practice, Invited Lecture, Welcome Trust Center for

Human Genetics, Oxford University, Oxford, United Kingdom, 10/10/2011

77. Whole Genome Sequencing: Helping Children Today, Annual Women's Seminar, Wisconsin Club,

Milwaukee, WI, 10/18/2011

78. Whole Genome Sequencing, BIOMG 2810 Genetics and Genomics, Ithaca, NY, 7/29/2011

79. Whole Genome Sequencing: Helping Children Today, Children's Hospital and Health System

Foundation, Bluemound Country Club, Wauwatosa, WI, 10/19/2011

80. Whole Genome Sequencing: Moving a research technique into the clinic, Children’s Research Institute

Research Conference, Milwaukee, WI, 10/20/2011

81. Whole Genome Sequencing: Moving a Research Technique to the Clinic, CRI Research Conference,

Children's Hospital of Wisconsin, Milwaukee, WI, 10/20/2011

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82. Whole Genome Sequencing: Helping Children Today, Annual Women's Seminar, Westmoor Country

Club, Brookfield, WI, 10/25/2011

83. Clinical Use of Whole Genome and Whole Exome Sequencing, Physician Scientist Pathway Course,

Medical College of Wisconsin, Milwaukee, WI, 11/17/2011

84. Clinical Use of Whole Genome and Whole Exome Sequencing Today, College of American

Pathologists Personalized Health Care, Webinar Series, 12/14/2011

85. Genetic Screening: What Should I Offer to My Patients?, CHW Resident Noon Conference,

Milwaukee, WI, 1/4/2012

86. Whole Genome Sequencing: Moving a research technique into the clinic, MCW Medical Scientist

Training Program, Milwaukee, WI, 2/9/2012

87. Impact of NGS on Clinical Genetics, ACMG CME Short Course: Next generation sequencing: Clinical

utility, laboratory implementation and bioinformatics analysis, American College of Medical Genetics

and Genomics 2012 Annual Clinical Genetics Meeting, Charlotte, NC, 3/27/2012

88. Effective communication of whole genome sequencing results, ACMG CME Short Course: Next

generation sequencing: Clinical utility, laboratory implementation and bioinformatics analysis,

American College of Medical Genetics and Genomics 2012 Annual Clinical Genetics Meeting,

Charlotte, NC, 3/27/2012

89. Whole Genome Sequencing: Helping Children Today, Children's Hospital and Health System

Foundation, St. John’s on the Lake, Milwaukee, WI, 4/20/2012

90. Whole Genome Sequencing in Clinical Practice Today, Genomic and Personalized Medicine Forum,

Duke Institute for Genome Sciences & Policy, Duke University Health Systems, Durham, NC,

5/17/2012

91. Whole Genome Sequencing: Helping Children Today, Greater Milwaukee Foundation Donor

Breakfast, Milwaukee, WI, 7/20/2012

92. Whole Genome Sequencing, BIOMG 2810 Genetics and Genomics, Ithaca, NY, 7/27/2012

93. Online Resources for Genetics, MCW and China Medical Association Intensive Developmental and

Behavioral pediatrics Training for Chinese Pediatricians, Medical College of Wisconsin, Milwaukee,

WI, 9/10/2012

94. Informatics in Next - Generation Sequencing: NGS Will Change the Practice of Medicine, Centers for

Disease Control and Prevention Conference, Nex-StoCT II, Atlanta, GA, 10/11/2012

95. Whole Genome and Whole Exome Sequencing in the Clinic, Association for Molecular Pathology

Annual Meeting, Genomic Medicine 2012, Long Beach, CA, 10/26/2012

96. Whole Genome and Whole Exome Sequencing in the Clinic, Association for Molecular Pathology,

Plenary Session, Long Beach, CA, 10/25/2012 - 10/27/2012

97. Whole Genome Sequencing in Clinical Practice, Emory University School of Medicine Grand Rounds,

Atlanta, GA, 11/12/2012

98. Current State of Practice: Whole Genome Sequencing in Clinical Use Today, Clinical & Translational

Science Institute Conference: Genomic & Personalized Medicine: Analysis and Clinical

Implementation, Marquette University Alumni Memorial Union, Milwaukee, WI, 12/17/2012

99. Genome Sequencing in Clinical Practice, Children's Research Institute Noon Conference, Medical

College of Wisconsin, Milwaukee, WI, 1/11/2013

100. Genetic Testing in 2013, MCW Billing & Collections Team Meeting American Academy of

Professional Coders (AAPC) CEU Lecture, Milwaukee, WI, 2/13/2013

101. Genetic Testing 2013 and Beyond, Best Practices in Pediatrics, Winter 2013 CME Conference,

Wisconsin Dells, WI, 3/9/2013

102. Challenges and Accomplishments of Exome and Genome Sequencing, American College of Medical

Genetics 2013 Annual Meeting, Phoenix, AZ, 3/23/2013

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103. Medical College of Wisconsin Experience: Reimbursement Successes and Failures in "In House"

WES/WGS, American College of Medical Genetics 2013 Annual Meeting, Phoenix, AZ, 3/23/2013

104. Developing a clinical and laboratory genomic medicine program, Invited Lecturer, Cincinnati

Children's Medical Center, Cincinnati, OH, 4/9/2013

105. Kabuki Syndrome and Histone deacetylase inhibitors, Kabuki Karnival - Kabuki Parent Support Group

Meeting, Mukwonago, WI, 7/13/2013

106. MCW/CHW clinical and laboratory genomic medicine program – a progress report, Human and

Molecular Genetics Center Lectures Series, Medical College of Wisconsin, Milwaukee, WI, 7/18/2013

107. Whole Genome Sequencing, BIOMG 2810 Genetics and Genomics, Cornell University, Ithaca, NY,

7/25/2013

108. Infantile Myofibroomatosis, Tumor Board, Medical College of Wisconsin, Milwaukee, WI,

10/17/2013

109. Whole Genome Sequencing in Children: Ready for Prime Time, American Academy of Pediatrics

2013, Meet-the-Expert Discussion, Orlando, FL, 10/26/2013

110. Whole Genome Sequencing in Children: Ready for Prime Time, American Academy of Pediatrics

2013, Meet-the-Expert Discussion, Orlando, FL, 10/27/2013

111. Using Genomic Sequencing in Clinical Practice Today, Prevention Genetics Seminar Series,

Marshfield, WI, 11/14/2013

112. How should physicians integrate the new variant classification guidelines into clinical care?, American

College of Medical Genetics Annual Meeting, Nashville, TN, 3/25/2014 - 3/29/2014

113. Genomic Sequencing in Clinical Practice, Department of Ophthalmology Grand Rounds, Medical

College of Wisconsin, Milwaukee, WI, 4/2/2014

114. Genetics 101: Fundamental Principles and Prenatal Genetics for the Pediatrician, Noon Conference for

Hospitalist Program, Medical College of Wisconsin, Milwaukee, WI, 5/20/2014

115. Using Genomic Sequencing in Clinical Practice Today, Laboratory Lecture, Children's Hospital of

Wisconsin, Milwaukee, WI, 6/12/2014

116. Using Genomic Sequencing in Clinical Practice Today, University of Oxford, Oxford Biomedical

Research Centre, Oxford, UK, 6/26/2014

117. Whole Genome Sequencing, BIOMG 2810 Genetics and Genomics, Cornell University, Ithaca, New

York, 7/25/2014

118. Developing a Clinical and Laboratory Genomic Medicine Program, Nationwide Children's Hospital,

Columbus, OH, 10/31/2014

119. Genetic Testing in the Era of Next Generation Sequencing, Children's Community Health Plan, West

Allis, WI, 2/27/2015

120. When to Order an Exome (Versus Other Genetic Tests) and Variant Interpretation in the Context of

WES vs. Single Genes and Panels, American College of Medical Genetics Annual Meeting, Short

Course, Salt Lake City, UT, 3/24/2015

121. Overview of NGS: A Comparison of WGS/WES Versus Microarray Testing in the Evaluation of

Intellectual Disability, Autism and/or Multiple Congenital Anomalies, American College of Medical

Genetics Annual Meeting. Satellite Symposium, Salt Lake City, UT, 3/25/2015

122. Developing a Clinical and Laboratory Genomic Medicine Program, University of Alabama, School of

Medicine, Birmingham, AL, 4/20/2015

123. HudsonAlpha Genomic Medicine Program, HudsonAlpha Institute for Biotechnology, Huntsville, AL,

9/21/2015

124. HudsonAlpha Genomic Medicine Program, Osher Lifelong Learning Institute at University of

Alabama, Huntsville, AL, 2/1/2016

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125. Translating Genes Into Health, American College of Medical Genetics and Genomics (ACMG) Short

Course: Annual Clinical Genetics Meeting 2016, Tampa, FL, 4/8/2016

126. Fox Army Health Center Lunch and Learn, Whole Genome Sequencing for Rare Undiagnosed or

Misdiagnosed Disease, Fox Army Health Center (FAHC), Redstone Arsenal, AL, 4/28/2016

127. Medical Group Management Association, Genetics and Genomics in Healthcare: How can it Help

Families Today? Montgomery, AL, 7/12/2016

128. Whole Genome Sequencing – It’s Time Has Arrived, Southeastern Regional Genetics Group, Ponte

Vedra Beach, FL 7/16/2016

129. Whole Genome Sequencing, BIOMG 2810 Genetics and Genomics Course, Cornell University, Ithaca,

NY, 7/29/2016

130. HudsonAlpha Genomic Medicine Conference, HudsonAlpha Institute for Biotechnology, Spectrum of

Genomic Knowledge, Huntsville, AL, 8/8/2016

131. HudsonAlpha Genomic Medicine Conference, HudsonAlpha Institute for Biotechnology, Genomics &

Your Practice, Huntsville, AL, 8/9/2016

132. Genomic Medicine and the Smith Family Clinic at HudsonAlpha Institute for Biotechnology, Merrill

Lynch, Fort Payne, AL, 9/7/2016

133. Genomics in Clinical Practice, Grand Rounds – Department of Pathology, Medical College of

Wisconsin, Milwaukee, WI, 1/20/2017

134. Genomics in Clinical Practice, Huntsville Hospital Health System Anesthesia Conference, Huntsville,

AL, 2/12/2017

135. Genetics, Genomics and Cardiology, 2017 Cardiology Update, Huntsville Hospital Foundation, UAH

College of Nursing, Huntsville, AL, 2/25/2017

136. Whole Genome Sequencing for Healthy Individuals in Clinical Practice: The HudsonAlpha

Experience, Annual Clinical Genetics Meeting 2017, Phoenix, AZ, 3/22/2017

137. Whole Genome Sequencing, BIOMG 2800 Genetics and Genomics, Cornell University, Ithaca, NY,

7/28/2017

138. Genomics in Clinical Practice, Hayward Center Genetics Seminar, Tulane University Medical Center,

New Orleans, LA, 5/5/2017

139. Genomic Medicine and the Smith Family Clinic at HudsonAlpha Institute for Biotechnology,

LearningQuest, Huntsville, AL 8/30/17

140. Genomic Medicine for Non-Clinicians, American Academy of Pediatrics Practice Managers,

Birmingham, AL, 9/29/17

141. Genetics, Genomics, and Pediatric Disease, American Academy of Pediatrics Alabama Chapter Fall

Pediatrics Update, Birmingham, AL, 9/30/17

142. Genomic Medicine at HudsonAlpha Institute for Biotechnology, Osher Lifelong Learning Institute at

University of Alabama, Huntsville, AL, 10/2/2017

143. Using genomics in clinical practice: diagnostic genomes & elective genomes, Festival of Genomics,

Boston, MA, 10/4/2017

144. Consumer Genomics: Direct or Indirect, Does it Really Matter? Individualized Medicine Conference,

Rochester, MN 10/9/2017

145. Genomic Medicine and the Smith Family Clinic at HudsonAlpha Institute for Biotechnology,

LearningQuest, Huntsville, AL 3/1/18

146. How Genetic Risk Profile Can Change Healthcare, Genomic Medicine Conference, HudsonAlpha

Institute for Biotechnology, Huntsville, AL 3/26/2018

147. Performance of Whole Genome Sequencing vs Whole Exome Sequencing, Satellite Symposia, ACMG

Annual Clinical Genetics Meeting, Charlotte, NC, 4/10/2018

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148. Genomic Medicine and the Smith Family Clinic, BioTrain Interns, HudsonAlpha Institute for

Biotechnology, Huntsville, AL, 5/31/2018

149. Performance of Whole Genome Sequencing vs Whole Exome Sequencing, SERGG Annual Meeting,

Asheville, NC, 7/21/2018

150. Whole Genome Sequencing, BIOMG 2800 Lectures in Genetics and Genomics, Cornell University,

Ithaca, NY, 7/27/2018

151. Genomics in Clinical Practice, Southern Regional Conference for Learning in Retirement, The

University of Alabama in Huntsville, 8/2/2018

152. Using Diagnostic and Elective Genomes in the Clinic, AGBT Precision Health Meeting, La Jolla, CA,

9/7/2018

153. Elective Genomic Testing: Comparing Apples and Oranges, Mayo Clinic Individualizing Medicine

Conference, Rochester, MN, 9/12/2018

154. How Genomics Can Help Identify Undiagnosed and Misdiagnosed Diseases, Concierge Medicine

Forum, Atlanta, GA, 10/26/2018-10/27/2018

155. Performance of Whole Genome Sequencing Versus Whole Exome Sequencing, Seattle Children’s

Hospital Webinar, Seattle WA, 10/30/2018

156. Do-It-Yourself DNA: What the Average Person Should Know About At-Home Genetic Testing,

HudsonAlpha Institute for Biotechnology, Huntsville, AL, 2/8/2018

157. Smith Family Clinic for Genomic Medicine, Athens Rotary Club, Athens, AL, 3/29/19

158. Whole genome sequencing is ready for the clinic: A comparison of genome and exome sequencing.

Alberta Precision Health for Rare Disease Summit “The Future is Here”, Alberta, Canada, 5/3/19

159. The Great Genome Debate: Are we ready for prime time? PLUGS Summit 2019, Seattle, WA, 6/14/19

160. Genomics: today and tomorrow, Professional Advisors Council, HudsonAlpha Institute for

Biotechnology, Huntsville, Alabama, 8/22/19

161. Future of Genetics in the Research Lab and the Clinic, Men’s Health Forum, HudsonAlpha Institute

for Biotechnology, Huntsville, Alabama, 8/12/19

162. Utility of Genomic Testing in Autism Spectrum Disorder, Synchrony 2019 International Symposium

on Translational Research in Autism, The Brain Foundation, Pleasanton, California, 11/8/19

163. Cardiology and Genetics – What’s New?, 2020 Cardiology Update, Huntsville Hospital, Huntsville,

Alabama, 2/22/20

164. Demystifying Genomes, University of Alabama in Birmingham Genetics Resident Retreat, Huntsville,

Alabama, 6/12/20

COMMITTEE SERVICE:

Medical College

7/2002-12/2006 Member, General Clinical Research Center Committee, Medical College of Wisconsin

5/2006-9/2006 Member, Curriculum and Evaluation Committee, Genetics Education Subcommittee,

Medical College of Wisconsin

12/2006-12/2008 Project Leader, Joint Effort of Children’s Hospital of Wisconsin, Pharmacogenetics and

Genomic Medicine Initiative, Department of Pediatrics and the Children’s Research Center, Medical College

of Wisconsin

7/2008-6/2011 Member, Library Committee, Medical College of Wisconsin

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MCW STUDENTS, FACULTY, RESIDENTS AND CLINICAL/RESEARCH FELLOWS

MENTORED:

Medical Students

Brook Daniels, Medical College of Wisconsin, 2007-2008 Medical Student Advisor

Ayuko Iverson, Medical College of Wisconsin, 2011-2012 Advisor

Graduate Students

PhD Committees

Kelly Duffy, Medical College of Wisconsin, 2006-2007 PhD Thesis Committee

MS Committees

Elad Amir , Medical College of Wisconsin, 2007-2008 Masters Thesis Committee

Navin Kumar, Medical College of Wisconsin, 2009-2011 Scholarship Oversight Committee

Daniel Helbling, Medical College of Wisconsin, 2010-2013 Masters Thesis Committee

GRANTS:

7/1978-Present National Foundation March of Dimes Summer Science Research Grant Program for Medical

Students

9/1988-8/1989 University of Texas Health Science Center at San Antonio Institutional Research Grant:

“Physical mapping of the X-linked Kallmann syndrome locus.”

7/1993-7/1994 Institute of Research and Education INOVA Health System: “Molecular Analysis of

Colorectal Cancer Susceptibility Gene in Patients with Colorectal Polyps and Cancer.”

$9,500

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BIBLIOGRAPHY

Refereed Journal Publications/Original Papers

1. Mahoney, M.J. and BICK, D.P. Recent advances in the inherited methylmalonic acidemias. (1987). Acta

Paediatr Scand 76:689-696. PMID: 2889315.

2. BICK, D.P., Balkite, E.A., Baumgarten, A., Hobbins, J.C., and Mahoney, M.J.: The association of

congenital skin disorders with acetylcholinesterase in amniotic fluid. (1987). Prenat Diagn 7:543-549. PMID: 2446309.

3. BICK, D.P., Markowitz, R., and Horwich, A. Trisomy 18 associated with ectopia cordis and occipital

meningocele. (1988). Am J Med Genet 30:805-810. PMID: 3189399.

4. BICK, D.P., Curry, C.J.R., McGill, J., Schorderet, D.F., Bux, R.C., and Moore, C.M. A male infant with

ichthyosis, Kallmann syndrome, chondrodysplasia punctata and an Xp chromosome deletion. (1989). Am J

Med Genet 33:100-107. PMID: 2750777.

5. Schwanzel-Fukuda, M., BICK, D.P., and Pfaff, D.W. Luteinizing hormone-releasing hormone (LHRH)-

expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. (1989). Mol

Brain Research 6:311-326. PMID: 2687610.

6. Ballabio, A., Bardoni, B., Carrozzo, R., Andria, G., BICK, D.P., Campbell, L., Hamel, B., Ferguson-

Smith, M.A., Gimelli, G., Fraccaro, M., Maraschio, P., Zuffardi, O., Guioli, S., and Camerino, G. Contiguous

gene syndromes due to deletions in the distal short arm of the human X chromosome. (1989). Proc Natl Acad

Sci 86:10001-10005. PMCID: PMC298630.

7. Swaroop, A., Agarwal, N., Gruen, J.R., BICK, D.P., and Weissman, S.M. Differential Expression of

Novel Gsα Signal Transduction Protein cDNA Species. (1991). Nucleic Acids Res 19:4725-4729. PMCID:

PMC328715.

8. BICK, D.P., Schorderet, D.F., Price, P.A., Campbell, L., Huff, R.W., Shapiro, L.J., and Moore, C.M.

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann

syndrome due to an Xp deletion. (1992). Prenat Diagn 12:19-29. PMID: 1557308.

9. BICK, D.P., Franco, B., Sherins, R.J., Heye, B., Pike, L., Crawford J., Maddalena, A., Incerti, B.,

Pragliola, A., Mettinger, T., and Ballabio, A. Brief Report: Intragenic deletion of the KALIG-1 gene in

Kallmann's syndrome. (1992). N Eng J Med 326:1752-1755. PMID: 1594017.

10. Maddalena, A., BICK, D.P., and Schulman, J.D. Molecular diagnosis of genetic disease. (1992). J Reprod

Med 37:437-444. PMID: 1507192.

11. Schnur, R.E., Wick, P.A., Sosnoski, D.N., Ballabio, A., BICK, D.P., and Nussbaum, R.L. Deletion

mapping and a highly reduced radiation hybrid in the Xp22.2-p22.3 region. (1993). Genomics 15:500-506.

PMID: 8468044.

12. Buehler, B.A., BICK, D.P., Delimont, D. Letter to the Editor: Prenatal prediction of risk of the fetal

hydantoin syndrome. (1993). N Eng J Med 322:1660-1661. PMID: 8232451.

13. Heuertz, S., Nelen, M., Wilkie, A.O.M., Le Merrer, M., Del Rieu, O., Larget-Piet, L., Tranebjaerg, L.,

BICK, D.P., Hamel, B., van Oost, B.A., Maroteaux, P., and Hors-Cayla, M.C. The gene for

spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92. (1993). Genomics 18:100-

104. PMID: 7903956.

14. BICK, D.P. and Ballabio, A. Commentary: Bringing Kallmann Syndrome into focus. Am J of Neurorad

(1993). 14:852-854. PMID: 8352156.

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15. Black, S.H., BICK, D.P., Maddalena, A., Schulman, J.D., and Jones, S. Letter to the Editor: Pregnancy

screening for cystic fibrosis. (1993). Lancet 30:342. PMID: 8105330.

16. Levinson, G., Maddalena, A., Palmer, F.T., Harton, G.L., BICK, D.P., Howard-Peebles, P.N., Black,

S.H., and Schulman, J.D. Improved sizing of fragile X CCG repeats by nested polymerase chain reaction.

(1994). Am J Med Genet 51:527-534. PMID: 7943035.

17. Spence, W.C., Maddalena, A., Demers, D.B., and BICK, D.P. Molecular analysis of the Rh locus in a

person with the Du phenotype. (1994). Transfusion 34:741-742. PMID: 8073496.

18. Howard-Peebles, P.N., Maddalena, A., Spence, W.C., Levinson, G., Fallon, L., BICK, D.P., Black, S.H.,

Schulman, J.D. Fragile X screening: what is the real issue? (1994). Am J Med Genet 53:382. PMID: 7864051.

19. Spence, W.C., Maddalena, A., Demers, D.B., and BICK, D.P. Molecular analysis of the RhD genotype

in fetuses at risk for RhD hemolytic disease. (1995). Obstet Gynecol 296-298. PMID: 7824249.

20. Levinson, G., Keyvanfar, K., Wu, J.C., Fugger, E.F., Fields, R.A., Harton, G.L., Palmer, F.T., Sisson,

M.E., Starr, K.M., Dennison-Lagos, L., Calvo, L., Sherins, R.J., BICK, D.P., Schulman, J.D., and Black, S.H.

DNA-based X-enriched sperm separation as an adjunct to preimplantation genetic testing for the prevention

of X-linked disease. (1995). Human Mol Reprod 1:979-982. PMID: 7650159.

21. Spence, W.C., Potter, P., Maddalena, A., Demers, D.B., and BICK, D.P. DNA-based prenatal

determination of the RhE genotype. (1995). Obstet Gynecol 21:670-672. PMID: 7675408.

22. Howard-Peebles, P.N., Maddalena, A., Black, S.H., Levinson, G., BICK, D.P., and Schulman, J.D.

Fragile X screening in pediatric & obstetrical patients. (1995). Dev Brain Dysfunct 8:408-410.

23. BICK, D.P. Genetic disease diagnosis: Challenges and opportunities. (1995). IEEE Engineering in

Medicine and Biology Magazine 14(2):226-228.

24. Spence, W.C., Black, S.H., Fallon, L., Maddalena, A., Cummings, E., Menapace-Drew, G., BICK, D.P.,

Levinson, G., Schulman, J.D., and Howard-Peebles, P.N. Molecular fragile X screening in normal

populations. (1996). Am J Med Genet 64:181-183. PMID: 8826471.

25. Spence, W.C., Maddalena, A., Demers, D.B., and BICK, D.P. Prenatal determination of genotypes Kell

and Cellano in at-risk pregnancies. (1997). J Reprod Med 42:353-357. PMID: 9219123.

26. Layman, L.C., Cohen, D.P., Jin, M., Xie, J., Li, Z., Reindollar, R.H., Bolbolan, S., BICK, D.P., Sherins,

R.J., Duck, L.W., Musgrove, L.C., Sellers, J.C., and Neill, J.D. Mutations in gonadotropin-releasing hormone

receptor gene cause hypogonadotropic hypogonadism. (1998). Nat Genet 18:14-15. PMID: 9425890.

27. BICK, D.P., Fugger, E.F., Pool, S., Hazelrigg, W.B., Yadvish, K.N., and Spence, W.C., Maddalena, A.,

Howard-Peebles, P.N., Schulman, J.D. Semen donor screening for hereditary diseases: The Fairfax Cryobank

Experience. J(1998). Reprod Med 43:423-428. PMID: 9610465.

28. Stavropoulos, D.J., BICK, D.P., and Kalousek, D.K. Molecular cytogenetic detection of confined gonadal

mosaicism in a conceptus with trisomy 16 placental mosaicism. (1998). Am J Hum Genet 63:1912-1914.

PMCID: PMC1377663.

29. BICK, D.P., McCorkle, D., Stanley, W.S., Stern, H.J., Staszak, P., Berkovitz, G.D., Meyers, C.M., and

Kelley, R.I. Short Communication: Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with

low maternal serum oestriol and a sex-reversed fetus. (1999). Prenat Diagn 19:68-71. PMID: 10073912.

30. Fallon, L., Harton, G.L., Sisson, M.E., Rodriguez, E., Field, L.K., Fugger, E.F., Geltinger, M., Sun, Y.,

Dorfmann, A., Schoener, C., BICK, D.P., Schulman, J., Levinson, G., and Black, S.H. Preimplantation genetic

diagnosis for spinal muscular atrophy type I. (1999). Neurology 53:1087-1090. PMID: 10496271.

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31. Taylor, H.S., Block, K., BICK, D.P., Sherins, R.J., and Layman, L.C. Mutation analysis of the EMX2

gene in Kallmann's syndrome. (1999). Fertil Steril. 72:910-914. PMID: 10560999.

32. Achermann, J.C., Gu, W-X., Kotlar, T.J., Meeks, J.J., Sabacan, L.P., Seminara, S.B., Habiby, R.L.,

Hindmarsh, P.C., BICK, D.P., Sherins, R.J., Crowley Jr., W.F., Layman, L.C., and Jameson, J.L. Mutational

analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. (1999). J Clin

Endocrinol Metab 84:4497-4500. PMID: 10599708.

33. Park J.K., Ozata M., Chorich L.P., Cheng L., BICK, D.P., Sherins R.J., Ozdemir I.C., Cogan J, Phillips

J.A. III, and Layman L.C. Analysis of the PROP1 gene in a large cohort of patients with idiopathic

hypogonadotropic hypogonadism. Clin Endocrinol (Oxf) 60(1):147-149, 2004. PMID 14678304.

34. Klein, O.D., Cotter, P.D., Schmidt, A.M., BICK, D.P, Tidyma, W.I., Albertson, D.G., Pinkel, D., and

Rauen, K.A. Interstitial deletion of chromosome 12q: Genotype-Phenotype correlation of two patients

utilizing array comparative genomic hybridization. (2005). Am J Med Genet 138(4):349-354. PMID:

16200635.

35. Bhagavath, B., Ozata, M., Ozdemir, I.C., Bolu, E., BICK, D.P., Sherins, R.J., and Layman, L.C. The

prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with

hypogonadotropic hypogonadism. (2005). Fertil Steril. 84(4):951-957. PMID: 16213849.

36. BICK, D.P. and Lau, E.C. Preimplantation genetic diagnosis. (2006). Pediatr ClinSounds North Am.

53(4):559-577. PMID: 16872993.

37. Bhagavath, B., Podolsky, R.H., Ozata, M., Bolu, E., BICK, D.P., Kulharya, A., Sherins, R.J., and

Layman, L.C. Clinical and molecular characterization of a large sample of patients with hypogonadotrophic

hypogonadism. (2006). Fertil Steril. 85(3):706-713. PMID: 16500342.

38. Johnston, J.J., Walker, R.L., Davis, S., Facio, F., Turner, J.T., BICK, D.P., Daentl, D.L., Ellison, J.W.,

Meltzer, P.S., and Biesecker, L.G. Zoom-in CGH arrays for the characterization of variable breakpoint

contiguous gene syndromes. (2007). J Med Genet. 44(1): e59. PMCID: PMC2597909.

39. Bhagavath, B., Xu, N., Ozata, M., Rosenfield, R.L., BICK, D.P., Sherins, R.J., and Layman, L.C. KAL1

mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans. (2007). Mol

Hum Reprod. 13(3):165-170. PMID: 17213338.

40. Swanson, A., Strawn, E., Lau, E., and BICK, D.P. Preimplantation genetic diagnosis: technology and

clinical applications. (2007). Wis Med J. 106(3):145-151. PMID: 17642353.

41. Pedersen-White, J.R., Chorich, L.P., BICK, D.P., Sherins, R.J., and Layman, L.C. The prevalence of

intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann Syndrome.

(20058). Mol Hum Reprod. 14(6):367-370. PMCID: PMC2434956.

42. Bick, S.L., BICK, D.P., Wells, B.E., Roesler M.R., Strawn, E.Y., and Lau, E.C. Preimplantation HLA

haplotyping using tri-, tetra-, and pentanucleotide short tandem repeats for HLA matching. (2008). J Assist

Reprod Genet. 25(7):323-331. PMCID: PMC2596682.

43. Kim, H.G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S.H., Kang, G.B., Rosenberger, G., Tekin,

M., Metin, O., BICK, D.P., Sherins, R., Walker, S., Shi, Y., Gusella, J., and Layman, L.C. Mutations in CHD7,

encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann

syndrome. (2008). Am J of Hum Genet. 83(4):511-519. PMCID: PMC2561938.

44. Samyn, M.M., BICK, D.P., Humphrey, J.A., and Gandy, K.L. Successful congenital heart surgery for a

toddler with idiopathic infantile arterial calcification. (2010). Pediatr. Cardiol. 31:1096-1099. PMID:

20552183.

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45. Strawn, E.Y. Jr, BICK, D.P., and Swanson, A. Is it the patient or the IVF? Beckwith-Wiedemann

syndrome in both spontaneous and assisted reproductive conceptions. (2010). Fertil Steril. 94(2):754.e1-2.

PMID: 20338562.

46. Lau, E.C., Janson, M.M., Roesler, M.R., Avner, E. D., Strawn, E.Y., and BICK, D.P. Birth of a healthy

infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using

multiple displacement amplification. (2010). J Ass Repro Gen. 27:397-407. PMCID: PMC2922704.

47. Kim, H.G., Ahn, J.W., Kurth, I., Ullmann, R., Kim, H.T., Kulharya, A., Ha, K.S., Itokawa, Y., Meliciani,

I., Wenzel, W., Lee, D., Rosenberger, G., Ozata, M., BICK, D.P., Sherins, R.J., Nagase, T., Tekin, M., Kim,

S.H., Kim, C.H., Ropers, H.H., Gusella, J.F., Kalscheuer, V., Choi, C.Y., and Layman, L.C. WDR11, a WD

protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic

hypogonadism and Kallmann syndrome. (2010). Am J Hum Genet. 87(4):465-479. PMCID: PMC2948809.

48. Xu, N., Kim, H., Bhagavath, B., Cho, S., Lee, J.H., Ha, K., Meliciani, I., Wenzel, W., Podolsky, R.S.,

Chorich, L.P., Stackhouse, K.A., Grove, A.M.H., Odom, L.N., Ozata, M., BICK, D.P., Sherins, R.J., Kim, S.,

Cameron, R.S., and Layman, L.C. Nasal embryonic LHRH factor (NELF) mutations in patients with

normosmic hypogonadotropic Hypogonadism and Kallmann syndrome. (2011). Fertil Steril, 95(5):1613-

1620. PMCID: PMC3888818.

49. Lindhurst, M.J., Sapp, J.C., Teer, J.K., Johnston, J.J., Finn, E.M., Peters, K., Turner, J., Cannons, J.L.,

BICK, D.P., Blakemore, L., Blumhorst, C., Brockmann, K., Calder, P., Cherman, N., Deardorff, M.A.,

Everman, D.B., Golas, G., Greenstein, R.M., Kato, B.M., Keppler-Noreuil, K.M., Kuznetsov, S.A.,

Miyamoto, R.T., Newman, K., Ng, D., O'Brien, K., Rothenberg, S., Schwartzentruber, D.J., Singhal, V.,

Tirabosco, R., Upton, J., Wientroub, S., Zackai, E.H., Hoag, K., Whitewood-Neal, T., Robey, P.G.,

Schwartzberg, P.L., Darling, T.N., Tosi, L.L., Mullikin, J.C., and Biesecker, L.G. A mosaic activating

mutation in AKT1 associated with the Proteus syndrome. (2011). N Engl J Med, 365(7):611-619. PMCID:

PMC3170413.

50. Mayer, A.N., Dimmock, D.P., Arca, M.J., BICK, D.P., Verbsky, J.W., Worthey, E.A., Jacob, H.J., and

Margolis, D.A. A timely arrival for genomic medicine. (2011). Gen Med, 13:195-196. PMID: 21169843.

51. Worthey, E.A., Mayer, A.N., Syverson, G.D., Helbling, D., Bonacci, B.B., Decker, B., Serpe, J.M., Dasu,

T., Tschannen, M.R., Veith, R.L., Basehore, M.J., Broeckel, U., Tomita-Mitchell, A., Arca, M.J., Casper, J.T.,

Margolis, D.A., BICK, D.P., Hessner, M.J., Routes, J.M., Verbsky, J.W., Jacob, H.J., and Dimmock, D.P.

Making a definitive diagnosis: successful clinical application of whole genome sequencing in a child with

intractable inflammatory bowel disease. (2011). Gen Med. 13:255-262. PMID: 21173700.

52. BICK, D.P. and Dimmock, D. Whole exome and whole genome sequencing. (2011). Curr Opin Pediatr,

23(6):594-600. PMID: 21881504.

53. Gargis, A.A., Kalman, L., Berry, M.W., BICK, D.P., Dimmock, D.P., Hambuch, T., Lu, F., Lyon, E.,

Voelkerding, K.V., Zehnbauer, B.A., Agarwala, R., Bennett, S.F., Chen, B., Chin, E.L.H., Compton, J.G.,

Das, S., Farkas, D.H., Ferber, M.J., Funke, B.H., Furtado, M.R., Ganova-Raeva, L.M, Geigenmüller, U.,

Gunselman, S.J., Hegde, M.R., Johnson, P.L.F., Kasarskis, A., Kulkarni, S., Lenk, T., Liu, C.S.J., Manion,

M., Manolio, T.A., Mardis, E.R., Merker, J.D., Rajeevan, M.S., Reese, M.G., Rehm, H.L., Simen, B.B.,

Yeakley, J.M., Zook, J.M., Lubin, I.M. Assuring the quality of next-generation sequencing in clinical

laboratory practice. (2012). Nature Biotechnology 30, 1033–1036. PMCID: PMC3827024.

54. Mahoney, M.J. and BICK, D.P. Recent advances in the inherited methylmalonic acidemias. (1987). Acta

Paediatr Scand. 76:689-696. PMID: 2889315.

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55. Quaynor, S.D., Kim, H.G., Cappello, E.M., Williams, T., Chorich, L.P., BICK, D.P., Sherins, R.J., and

Layman, L.C. The prevalence of digenic mutations in patients with normosmic hypogonadotropic

hypogonadism and Kallmann syndrome. (2011). Fertil Steril. 96(6):1424-1430. PMCID: PMC3573697.

56. Kumar, N., Leverence, J., BICK, D.P., and Sampath, V. Ontogeny of growth-regulating genes in the

placenta. )20112). Placenta. 33(2):94-99. PMID: 22154689.

57. Tomita-Mitchell, A., Mahnke, D.K., Struble, C.A., Tuffnell, M.E., Stamm, K.D., Hidestrand, M., Harris,

S.E., Goetsch, M.A., Simpson, P.M., BICK, D.P., Broeckel, U., Pelech, A.N., Tweddell, J.S., and Mitchell,

M.E. Human gene copy number spectra analysis in congenital heart malformations. (2012). Physiol Genomics

44(9):518-541. PMCID: PMC3426426.

58. Lemke, A., BICK, D.P., Simpson, P., and Veith, R. Perspectives of clinical genetics professionals toward

genome sequencing and incidental findings: A survey study. (2012). Clin Genet. PMCID: PMC3888159.

59. Manolio, T.A., Chisholm, R.L, Ozenberger, B., Roden, D.M., Williams, M.S., Wilson, R., BICK, D.P.,

Bottinger, E.P., Brilliant, M.H., Eng, C., Frazer, K.A., Korf, B., Ledbetter, D.H., Lupski, J.R., Marsh, C.,

Mrazek, D., Murray, M.F., O’Donnell, P.H., Rader, D.J., Relling, M.V., Shuldiner, A.R., Valle, D.,

Weinshilboum, R., Green, E.D., Ginsburg, G.S. Implementing genomic medicine in the clinic: the future is

here. (2013). Genet Med. (4):258-267. Advance online publication 10 January 2013. doi:10.1038/

gim.2012.157. PMCID: PMC3835144.

60. Schiller, J.J., Hopp, K.A., Peitz, B.C., BICK, D.P., Lau, E.C., and Ellis, T.M. A simplified method for

screening siblings for HLA identity using short tandem repeat (STR) polymorphims. (2013). Human Immun,

74:5, 562-566. PMID: 23291277.

61. Jacob, H.J., Abrams, K., BICK D.P., Brodie, K., Dimmock, D.P., Farrell, M., Geurts, J., Harris, J.,

Helbling, D., Joers, B.J., Kliegman, R., Kowalski, G., Lazar, J., Margolis, D.A., North, P., Northup, J.,

Roquemore-Goins, A., Scharer, G., Shimoyama, M., Strong, K., Taylor, B., Tsaih, S.W., Tschannen, M.R.,

Veith, R.L., Wendt-Andrae, J., Wilk, B., and Worthey, E.A. Genomics in clinical practice: lessons from the

front lines. (2013). Sci Transl Med. 17;5(194):194cm5. PMID: 23863829.

62. Lindhurst, M.J., Wang, J., Bloomhardt, H., Wikowski, A.M. Singh, L.N., BICK, D.P., Gambello, M.J.,

Powerll, C.M. Chia, C., Lee, R., Darling, T.N., and Besecker, L.G. AKT1 gene mutation levels are correlated

with the type of dermatologic lesions in patients with Proteus syndrome. (2013). J Invest Dermatol. PMCID:

PMC3868633.

63. Weh, E., Reis, L.M., Tyler, R.C., BICK, D.P., Rhead, W.J., Wallace, S., McGregor, T.L., Dills, S.K.,

Chao, M.C., Murray, J.C., and Semina, E.V. Novel B3GALTL mutations in classic Peters Plus syndrome and

lack of mutations in a large cohort of patients with similar phenotypes. (2013). Clin Genet. doi:

10.1111/cge.12241. [Epub ahead of print]. PMCID: PMC4103962.

64. Strong, K.A., Derse, A.R., Dimmock, D.P., Zusevics, K.L., Jeruzal, J., Worthey, E., BICK, D.P., Scharer,

G., La Pean Kirschner, A., Spellecy, R., Farrell, M.H., Geurts, J., Veith, R., and May, T. In the absence of

evidentiary harm, existing societal norms regarding parental authority should prevail. (2014). Am J Bioeth

14(3):24-26. PMID: 24592835.

65. Deml, B., Reis, L.M., Maheshwari, M., Griffis, C., BICK, D.P., and Semina, E.V. Whole exome analysis

identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving

microphthalmia. (2014). Clin Genet. 86(5):475-481. doi: 10.1111/cge.12379. Epub 2014 Apr 12. PMCID:

PMC4163542.

66. Yuen, M., Sandaradura, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quinlan, K.G., Lehtokari,

V.L., Ravenscroft, G., Todd, E.J., Ceyhan-Birsoy, O., Gokhin, D.S., Maluenda, J., Lek, M., Nolent, F.,

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Pappas, C.T., Novak, S.M., D'Amico, A., Malfatti, E., Thomas, B.P., Gabriel, S.B., Gupta, N., Daly, M.J.,

Ilkovski, B., Houweling, P.J., Davidson, A.E., Swanson, L.C., Brownstein, C.A., Gupta, V.A., Medne, L.,

Shannon, P., Martin, N., BICK, D.P., Flisberg, A., Holmberg, E., Van den Bergh, P., Lapunzina, P., Waddell,

L.B., Sloboda, D.D., Bertini, E., Chitayat, D., Telfer, W.R., Laquerrière, A., Gregorio, C.C., Ottenheijm, C.A.,

Bönnemann, C.G., Pelin, K., Beggs, A.H., Hayashi, Y.K., Romero, N.B., Laing, N.G., Nishino, I., Wallgren-

Pettersson, C., Melki, J., Fowler, V.M., MacArthur, D.G., North, K.N., and Clarke, N.F. Leiomodin-3

dysfunction results in thin filament disorganization and nemaline myopathy. (2014). J Clin Invest. pii: 75199.

doi: 10.1172/JCI75199. [Epub ahead of print]. PMCID: PMC4347224.

67. Dimmock, D.P. and BICK, D.P., Ethical issues in DNA sequencing in the neonate. (2014). Clin Perinatol,

Dec;41(4):993-1000. PMID: 25459786.

68. Strong, K.A., Zusevics1, K.L., BICK, D.P., and Veith, R. Views of Non-Medical, Health System

Professionals Regarding the Return of Whole Genome Sequencing Incidental Findings. (2014). Clin Genet,

PMID: 24673592.

69. Strong, K.A., Zusevics, K.L., BICK, D.P., and Veith, R. Views of primary care providers regarding the

return of genome sequencing incidental findings. (2014). Clin Genet. 86(5):461-468. doi: 10.1111/cge.12390.

Epub 2014 May 20. PMID: 24673592.

70. Miller, M.J., Burrage, L.C., Gibson, J.B., Strenk, M.E., Lose, E.J., BICK, D.P., Elsea, S.H., Sutton, V.R.,

Sun, Q., Graham, B.H., Craigen, W.J., Zhang, V.W., and Wong, L.C. Recurrent ACADVL molecular findings

in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD)

deficiency in the United States. (2015). Molecular Genetics and Metabolism. 139-145. PMCID:

PMC4790081.

71. Deml, B., Reis, L.M., Muheisen, S., BICK, D.P., and Semina, E.V. EFTUD2 deficiency in vertebrates:

Identification of a novel human mutation and generation of a zebrafish model. (2015). Birth Defects Res A

Clin Mol Teratol. 103(7):630-640. doi: 10.1002/bdra.23397. Epub 2015 Jun 27. PMID: 26118977. PMCID:

PMC4487781.

72. Gargis, A.S., Kalman, L., BICK, D.P., da Silva, C., Dimmock, D.P., Funke, B.H., Gowrisankar, S.,

Hegde, M.R., Kulkarni, S., Mason, C.E., Nagarajan, R., Voelkerding, K.V., Worthey, E.A., Aziz, N., Barnes,

J., Bennett, S.F., Bisht, H., Church, D.M., Dimitrova, Z., Gargis, S.R., Hafez, N., Hambuch, T., Hyland, F.C.,

Luna, R.A., MacCannell, D., Mann, T., McCluskey, M.R., McDaniel, T.K., Ganova-Raeva, L.M., Rehm,

H.L., Reid, J., Campo, D.S., Resnick, R.B., Ridge, P.G., Salit, M.L., Skums, P., Wong, L.J., Zehnbauer, B.A.,

Zook, J.M., and Lubin, I.M. Good laboratory practice for clinical next-generation sequencing informatics

pipelines. (2015). Nat Biotechnol. 33(7):689-693. doi: 10.1038/nbt.3237. PMID: 26154004.

73. Rojnueangnit, K., Xiem, J., Gomes, A., Sharp, A., Callens, T., Chen, Y., Liu, Y., Cochran, M., Abbott,

M.A., Atkin, J., Babovic-Vuksanovic, D., Barnett, C.P., Crenshaw, M., Bartholomew, D.W., Basel, L., Bellus,

G., Ben-Shachar, S., Bialer, M.G., BICK, D.P., Blumberg, B., Cortes, F., David, K.L., Destree, A., Duat-

Rodriguez, A., Earl, D., Escobar, L., Eswara, M., Ezquieta, B., Frayling, I.M., Frydman, M., Gardner, K.,

Gripp, K.W., Hernández-Chico, C., Heyrman, K., Ibrahim, J., Janssens, S., Keena, B.A., Llano-Rivas, I.,

Leppig, K., McDonald, M., Misra, V.K., Mulbury, J., Narayanan, V., Orenstein, N., Galvin-Parton, P., Pedro,

H., Pivnick, E.K., Powell, C.M., Randolph, L., Raskin, S., Rosell, J., Rubin, K., Seashore, M., Schaaf, C.P.,

Scheuerle, A., Schultz, M., Schorry, E., Schnur, R., Siqveland, E., Tkachuk, A., Tonsgard, J., Upadhyaya, M.,

Verma, I.C., Wallace, S., Williams, C., Zackai, E., Zonana, J., Lazaro, C., Claes, K., Korf, B., Martin, Y.,

Legius, E., and Messiaen, L. High Incidence of Noonan Syndrome Features Including Short Stature and

Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype

Correlation. (2015). Hum Mutat. 36(11):1052-1063. doi:10.1002/humu.22832. PMCID: PMC5049609.

74. Miller, M.J., Burrage, L.C., Gibson, J.B., Strenk, M.E., Lose, E.J., BICK, D.P., Elsea, S.H., Sutton, V.R.,

Sun, Q., Graham, B.H., Craigen, W.J., Zhang, V.W., and Wong, L.J. Recurrent ACADVL molecular findings

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in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD)

deficiency in the United States. (2015). Mol Genet Metab. 116(3):139-145. doi:10.1016/j.ymgme. PMCID:

PMC4790081.

75. Mele, C., Lemaire, M., Iatropoulos, P., Piras, R., Bresin, E., Bettoni, S., BICK, D.P., Helbling, D., Veith,

R., Valoti, E., Donadelli, R., Murer, L., Neunhäuserer, M., Breno, M., Frémeaux-Bacchi, V., Lifton, R.,

Remuzzi, G., and Noris, M. Characterization of a New DGKE Intronic Mutation in Genetically Unsolved

Cases of Familial Atypical Hemolytic Uremic Syndrome. (2015). Clin J Am Soc Nephrol. 10(6):1011-1019.

doi:10.2215/CJN.08520814. PMCID: PMC4455211.

76. Richards, S., Aziz, N., Bale, S., BICK, D.P., Das, S., Gastier-Foster, J., Grody, W.W., Hegde, M., Lyon,

E., Spector, E., Voelkerding, K., Rehm, H.L., and ACMG Laboratory Quality Assurance Committee.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the

American College of Medical Genetics and Genomics and the Association for Molecular Pathology. (2015).

Genet Med. 17(5):405-424. doi:10.1038/gim.2015.30. PMCID: PMC4544753.

77. Yuen, M., Sandaradura, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quinlan, K.G., Lehtokari,

V.L., Ravenscroft, G., Todd, E.J., Ceyhan-Birsoy, O., Gokhin, D.S., Maluenda, J., Lek, M., Nolent, F.,

Pappas, C.T., Novak, S.M., D'Amico, A., Malfatti, E., Thomas, B.P., Gabriel, S.B., Gupta, N., Daly, M.J.,

Ilkovski, B., Houweling, P.J., Davidson, A.E., Swanson, L.C., Brownstein, C.A., Gupta, V.A., Medne, L.,

Shannon, P., Martin, N., BICK, D.P., Flisberg, A., Holmberg, E., Van den Bergh, P., Lapunzina, P., Waddell,

L.B., Sloboda, D.D., Bertini, E., Chitayat, D., Telfer, W.R., Laquerrière, A., Gregorio, C.C., Ottenheijm, C.A.,

Bönnemann, C.G., Pelin, K., Beggs, A.H., Hayashi, Y.K., Romero, N.B., Laing, N.G., Nishino, I., Wallgren-

Pettersson, C., Melki, J., Fowler, V.M., MacArthur, D.G., North, K.N., and Clarke, N.F. Leiomodin-3

dysfunction results in thin filament disorganization and nemaline myopathy. (2015). J Clin Invest. 125(1):456-

457. doi:10.1172/JCI80057. PMCID: PMC4382254.

78. Peterson, J.F., BICK, D.P., Geddes, G.C., McCarrier, J., Grignon, J.W. Jr., Chirempes, B., Broeckel, U.,

Abidi, F., Rogers, R.C., Boccuto, L., DuPont, B., and vanTuinen, P. Concomitant 11p15.4-p15.5 duplication

and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome. (2016). Am. J.

Med. Genet. A. 170: 3348-3351. doi: 10.1002/ajmg.a.37939. Epub 2016 Aug 23. PMID: 27549580.

79. BICK, D.P., Fraser, P.C., Gutzeit,, M.F., Harris, J.M., Hambuch, T.M., Helbling, D.C., Jacob, H.J.,

Kersten, J.N., Leuthner, S.R., May, T., North, P.E., Prisco, S.Z., Schuler, B.A., Shimoyama, M., Strong, K.A.,

Why, S.K.V., Veith, R., Verbsky, J., Weborg, A.M., Wilk, B., Willoughby, R.E., Worthey, E., and David, A.

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. J. Pediatr. Genet. DOI

http://dx.doi.org/ 10.1055/s-0036-1593968. ISSN 2146-4596. 2016. PMCID: PMC5423809.

80. O’Daniel, J., McLaughlin, H., Amendola, L., Bale, S., Berg, J., BICK, D.P., Bowling, K., Chao, E.,

Chung, W., Conlin, L., Cooper, G., Das, S., Deignan, J., Dorschner, M., Evans, J., Ghazani, A., Goddard, K.,

Gornick, M., Farwell Hagman, K., Hambuch, T., Hegde, M., Hindorff, L., Holm, I., Jarvik, G., Knight

Johnson, A., Mighion, L., Morra, M,. Plon, S., Punj, S., Richards, C., Santani, A., Shirts, B., Spinner, N.,

Tang, S., Weck, K., Wolf, S., Yang, Y., and Rehm, H. A survey of current practices for genomic sequencing

test interpretation and reporting processes in US laboratories. (2017). Genetics in Medicine, vol. 19, issue 5

pp. 575-582. PMCID: PMC5415437.

81. Brar R., Basel, D.G., BICK, D.P., Weik, L., vanTuinen, P., and Peterson, J.F. Mosaic Trisomy 9p in a

Patient with Mild Dysmorphic Features and Normal Intelligence. (2017). J Assoc Genet Technol. 43: 56-58.

PMID: 28511170.

82. Peterson, J., Basel, D., BICK, D.P., Chirempes, B., Grignon, J.W., JR. Weik, L., and Kappes, U. A Rare

Combination of Functional Disomy Xp, Deletion Xq13.2-q28 Spanning the XIST gene, and Duplication

3q25.33-q29 in a Female with der (X)t(X;3)(q13.2;q25.33). (2018). J. Pediatr. Genet. (1):23-28. doi:

10.1055/s-0037-1604448. Epub 2017 Jul 26. PMCID: PMC5809172.

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83. Liu, N., Schoch, K., Luo., X., Pena, L., Bhavana, V.H., Kukolich, M., Stringer, S., Powis, Z., Radtke, K.,

Mroske, C., Deak, K., McDonald ,M.T., McConkie-Rosell, A., Markert, M.L., Kranz, P., Stong, N., Need,

A.C., BICK, D.P., Amaral, M.D., Worthey, E.A., Levy, S., Undiagnosed Diseases Network (UDN), Wangler,

M.F., Bellen, H.J., Shashi, V., and Yamamoto, S. Functional variants in TBX2 are associated with a

syndromic cardiovascular and skeletal developmental disorder. (2018). Hum. Mol. Genet. 15:2454-2465.

PMCID: PMC6030957.

84. Richards, C.S., Aziz, N., Bale, S., BICK, D.P., Das, S., Gastier-Foster, J., Grody, W.W., Hegde, M.,

Lyon, E., Spector, E., Voelkerding, K., and Rehm, H.L., on behalf of the ACMG/AMP Interpretation of

Sequence Variants Work Group 2015. Response to Biesecker and Harrison. (2018). Genetics in Medicine.

doi:10.1038/gim.2018.43. PMID: 29543230.

85. Friederich, M., Timal, S., Powell, C., Dallabona, C., Kurolap, A., Palacios-Zambrano, S., Bratkovic, D.,

Derks, T., BICK, D.P., Bouman, K., Chatfield, K., Damouny-Naoum, N., Dishop, M., Falik-Zaccai, T., Fares,

F., Fedida, A., Ferrero, I., Gallagher, R., Garesse, R., Gilberti, M., González, C., Gowan, K., Habib, C.,

Halligan, R., Kalfon, L., Knight, K., Lefeber, D.G., Mamblona, L., Mandel, H., Mory, A., Ottoson, J.,

Paperna, T., Pruijn, G., Rebelo-Guiomar, P., Saada, A., Sainz Jr., B., Salvemini, H., Schoots, M., Smeitink,

J., Szukszto, M., ter Horst, H., van den Brandt, F., van Spronsen, F., Veltman, J., Wartchow, E., Wintjes, L.,

Zohar, Y., Fernandez-Moreno, M., Baris, H., Donnini, C., Minczuk, M., Rodenburg, R., and Van Hove, J.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial

cardiomyopathy disorder. (2018). Nat Commun. 9:4065. doi: 10.1038/s41467-018-06250-w.

PMCID: PMC6170436.

86. Zastrow, B.D., Bonner, D., Kohler, J.N., Reuter, C.M., Fernandez, L., Grove, M.E., Fisk, D.G., Yang,

Y., Eng, C.M., Ward, P.A., BICK, D.P., Worthey, E.A., Fisher, P.G., Ashley, E.A., Bernstein, J.A., and

Wheeler, M.T. A Toolkit for Genetic Counselors in Clinical Follow-up of Patients with Non-Diagnostic

Exome Sequencing. (2018). Journal of Genetic Counseling. doi: 10.1002/jgc4.1119 PMID: 30964584

87. Lu, J.T., Ferber, M., Hagenkord, J., Levin, E., South, S., Kang, H.P., Strong, K.A., and BICK, D.P.

Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: 'Elective' Genomic

Testing. (2018). J Mol Diagn. 21: 3-12. doi: 10.1016/j.jmoldx.2018.09.006. PMID: 30453057.

88. East, K.M., Cochran, M., Kelley, W.V., Greve, V., Emmerson, K., Raines, G., Cochran, J.N., Hott, A.M.,

and BICK, D.P. Odyssey versus Curiosity: exploring the needs of diagnostic and elective genomic medicine

patients. (2018). Journal of Genetic Counseling. doi: 10.1002/jgc4.1114. PMID: 30964585.

89. Liang, L., Li1, X., Moutton, S., Schrier Vergano, S.A., Isidor, B., de Saint-Martin, A., Hurst, A.C.E., Hu,

Y., Bodamer, O., Thevenon, J., Hung, C.Y., Cogné6, B., Gerard, B., Rega, A., Nambot, S., Lehalle, D.,

Duffourd, Y., Thauvin-Robine, C., Faivre, L., Bézieau, S., Chen, Q., Mancini, G.M.S., Vitobello, A., and

Wang, Q.K. De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation

syndrome and a broad spectrum of developmental phenotypes and neurological disorders. (2019). Hum. Mol.

Genet. Jun 1. pii: ddz117. doi: 10.1093/hmg/ddz117. [Epub ahead of print]. PMID: 31152168.

90. East, K.M., Cochran, M., Kelley, W.V., Greve, V., Emmerson, K., Raines, G., Cochran, J.N., Hott, A.,

and BICK, D.P. Understanding the present and preparing for the future: exploring the needs of diagnostic and

elective genomic medicine patients. (2019). Journal of Genetic Counseling. Apr;28(2):438-448.

doi: 10.1002/jgc4.1114. PMID: 30964585.

91. BICK, D.P., Jones, M.D., Taylor, S., Taft, R.J., and Belmont, J. The Case for Genome Sequencing in

Infants and Children with Rare, Undiagnosed or Genetic Diseases. (2019). Journal of Medical Genetics.

(2019). doi: 10.1136/jmedgenet-2019-106111. PMID: 31023718.

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92. Hagenkord, J.M., Funke, B., Qian, E., Hegde, M., Jacobs, K., Ferber, M., Lebo, M., Buchanan, A., and

BICK, D.P. Design and Reporting Considerations for Genetic Screening Tests. Genetics in Medicine. (2020).

doi: 10.1016/j.jmoldx.2020.01.014. PMID:32092541.

93. Hurst, A.C.E., Wilk, M.A., Holt, J.M., Lyon, E., and BICK, D.P. Clinical Diagnosis Through Whole

Genome Sequencing. Clinical Chemistry, Volume 66, Issue 1, Pages 261-262. 2020 doi: 10.1093

94. McKay, C.I., BICK, D., Prokop, J.W., Muñoz, I. Rouse, J., Downs, J. and Leonard, H. Expanding the

Phenotype of the CDKL5 Deficiency Disorder: Are Seizures Mandatory? (2020). Am J Med Genet.

doi: 10.1002/agmg.a.61504. PMID: 32034940.

95. Marshall, C.R., BICK, D.P., Belmont, J.W., Taylor, S.L., Ashley, E., Dimmock, D., Jobanputra, V.,

Kearney, H.M., Kulkarni, S., Rehm, H., on behalf of the Medical Genome Initiative. Best Practice

Recommendations for Clinical Whole Genome Sequencing Intended for the Diagnosis of Rare Genetic

Disease: The Medical Genome Initiative. (2020). Submitted.

96. Marshall, C.R., Chowdhury, S., Taft, R.J., Lebo, M.S., Buchan, J.G., Harrison, S.M., Rowsey, R., Klee,

E.W., Liu, P., Worthey, E.A., Jobanputra, V., Dimmock, D., Kearney, H.M., BICK, D.P., Kulkarni, S., Taylor,

S.L., Belmont, J.W., Stavropoulous, D.J., Lennon, N.J., on behalf of the Medical Genome Initiative. Best

Practices for the Analytical Validation of Clinical Whole-Genome Sequencing Intended for the Diagnosis of

Germline Disease. (2020). Submitted.

97. Hayeems, R.Z., Dimmock, D., BICK, D.P., Belmont, J.W., Green, R.C., Lanpher, B., Jobanputra, V.,

Mendoza, R., Ulkarni, S., Grove, M.E., Taylor, S.L., Ashley, E., on behalf of the Medical Genome Initiative.

Clinical Utility of Genomic Sequencing: A Measurement Toolkit. (2020). Submitted.

98. Chen, Y., Zastrow, D.B., Metcalfe, R.D., Gartner, L., Krause, F., Morton, C.J., Fresard, L., Huang, Y.,

Zhao, C., Marwaha, S., McCormack, C., BICK, D.P., Worthey, E.A., Yang, Y., Eng, C.M., Gold, J.,

Undiagnosed Diseases Network, Montgomery, S.B., Fisher, P.G., Ashley, E.A., Phil, D., Wheeler, M.T.,

Parker, M.W., Shanmugasundaram, V., Putoczki, T.L., Schmidt-Arras, D., Laurence, A., Bernstein, J.A.,

Griffin, M.D.W., Uhlig, H.H. The structural basis of cytokine selective IL6st defects that cause recessive

hyper-IgE syndrome. (2020). Submitted.

Books, Chapters, and Reviews

1. Lau, E.C., Janson, M.M., Ball, C.B., Roesler M.R., VanTuinen, P., BICK, D.P., Strawn, E.Y. In Vitro

Fertilization: Innovative Clinical and Laboratory Aspects, Chapter 8: Preimplantation Genetic Testing:

Current Status and Future Prospects. ISBN: 978-953-51-0503-9. 2012

2. Duffy, K.J., Kelly, M.E., BICK, D.P. Sander & North's Vascular Tumors and Developmental

Malformations: Pathogenic Mechanisms and Molecular Diagnosis. Chapter 2: Vascular Overgrowth, 2016.

Editorials, Letters to Editor, Other

1. BICK, D.P., Ballabio, A. Letter to the Editor: Chromosome abnormalities in and pathogenesis of Kallmann

Syndrome. Am J Med Genet 37:298, 1990.

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2. BICK, D.P., Maddalena, A., Black, S.H., Headrick, E.G., Cummings, E., Jones, S.L., Costakos, D., Becker,

R., Schulman, J.D. Letter to the Editor: Prenatal screening for the delta-F508 cystic fibrosis mutation in a

population not selected for cystic fibrosis. Lancet 336:1324, 1990.

3. Schulman, J.D., Maddalena, A., Black, S.H., BICK, D.P. Letter to the Editor: Screening for Cystic Fibrosis

Carriers. Am J Hum Genet 47:740, 1990.

Abstracts

1. BICK, D.P., Balkite, E., Baumgarten, A., Hobbins, J.C., Maloney, M.J. Occurrence of amniotic fluid

acetylcholinesterase in association with congenital skin disorders. Am J Hum Genet, 37: A213, 1985.

2. BICK, D.P., Fenton, W.A., Kalousek, F., Kraus, J.P., and Rosenberg, L.E. Molecular cloning of a human

methylmalonyl CoA mutase cDNA. Clinical Research, 1987.

3. BICK, D.P., Schorderet, D.F., McGill, J.R., Bux, R.C., Moore, C.M. Ichthyosis, Kallmann syndrome and

chondrodysplasia punctata in a male infant and an Xp chromosome deletion: relationship to warfarin

embryopathy. Am J Hum Genet, 43: A39 (Supplement), September 1988.

4. Jorgenson, R.J. and BICK, D.P. A new syndrome of dwarfism, trichodysplasia, cleft palate and unusual

facies. March of Dimes Clinical Genetics Conference. Baltimore, Maryland. 1988.

5. BICK, D.P., Snead, M., Yen, P.H., McGill, J., Schorderet, D., Hejtmancik, J.F., Ballabio, A., Campbell,

L., L., Moore, C., Curry, C.J., Lau, E.C., Shapiro, L. Mapping chondrodysplasia punctata, ichthyosis,

Kallmann Syndrome and DNA markers in male patients with Xp chromosome deletions. Human Gene

Mapping Cytogenet Cell Genet 51:962, 1989.

6. Ballabio, A., Carrozzo, R., BICK, D.P., Andria, G., Fraccaro, M. Deletion map of the Xp22.3-pter region

obtained by the study of patients with contiguous gene syndromes. Human Gene Mapping 10. Cytogenet Cell

Genet 51:957, 1989.

7. Schwanzel-Fukuda, M., BICK, D.P., Pfaff, D.W. Luteinizing hormone-releasing hormone (LHRH) cells

do not migrate normally in Kallmann's syndrome (hypogonadotropic hypogonadism with anosmia). Soc for

Neurosci, 1989.

8. BICK, D.P., Schwanzel-Fukuda, M., Pfaff, D.W., Schorderet, D.F., Price, P.A., Campbell, L., Huff, R.W.,

Moore, C.M. Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis and

Kallmann syndrome due to an Xp deletion: Evidence for a neuronal migration defect in Kallmann syndrome.

Am J Hum Genet 45: A252, 1989.

9. Ryan, S.G., BICK, D.P., Mackley, R.W., Naylor, S.L. Hereditary startle disease: clinical features and

response to clonazepam in a large pedigree amenable to linkage analysis. Am J Hum Genet 45: A61, 1989.

10. Cheah, M.S.C., McDonald, S., BICK, D.P. Regulation of the human fgr proto-oncogene expression during

fetal liver development. The American Pediatric Society/The Society for Pediatric Research, 1990.

11. BICK, D.P., Maddalena, A., Black, S.H., Costakos, D., Cummings, E., Jones, S.L., Headrick, E.G. Pilot

study of prenatal screening for the delta-F508 cystic fibrosis (CF) mutation in an unselected population. Am

J Hum Genet 47: A209, 1990.

12. Maddalena, A., BICK, D.P., Fugger, E., Jones, S., Schulman, J.D. Screening of sperm bank donors for the

delta-F508 cystic fibrosis mutation. Am J Hum Genet 47: A290, 1990.

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13. Park, C.Y., BICK, D.P., Bustamante, S.A. Disaccharidase activity in the human fetal intestine: focus on

early ontogeny. Southern Society for Pediatric Research, 1991.

14. Black, S.H., Maddalena, A., BICK, D.P., Levinson, G., Howard-Peebles, P.N., Schulman, J.D. Molecular

fragile X screening in a pregnant population with family histories of mental retardation (MR) or learning

disabilities (LD). Am J Hum Genet 51: A20, 1992.

15. Schulman, J.D., Maddalena, A., Black, S.H., BICK, D.P., Howard-Peebles, P.N. Carrier testing of persons

with suggestive family histories confirms a high frequency of fragile X. eds. R. J. Hagerman, P. McKenzie.

Third International Fragile X Conference. June, 1992.

16. Levinson, G., Maddalena, A., Palmer, F.T., Harton, G.L., BICK, D.P., Howard-Peebles, P.N., Black, S.H.,

Schulman, J.D. Sizing fragile X premutations and normal alleles with nested PCR. eds. R. J. Hagerman, and

P. McKenzie. Third International Fragile X Conference, 1992.

17. Black, S.H., BICK, D.P., Schulman, J.D. Selected aspects of risks of chorionic villus sampling (CVS) in

a large series. Gametes to Embryo. VI International Conference on Early Prenatal Diagnosis of Genetic

Disease, 1992.

18. Maddalena, A., Black, S.H., BICK, D.P., Schulman, J.D., Howard-Peebles, P.N. Fragile X screening in

an obstetrical population selected for suggestive family histories. 24th Annual March of Dimes-Clinical

Genetics Conference, Stanford, CA. July 12-15, 1992.

19. Levinson, G., Maddalena, A., Palmer, F.T., Harton, G.L., BICK, D.P., Howard-Peebles, P.N., Black, S.H.,

Schulman, J.D. Improved sizing of fragile X repeats by nested PCR. Sixth International Workshop on Fragile

X and X-Linked Mental Retardation, Queensland, Australia. August 3-6, 1993.

20. BICK, D.P. The X-linked Kallmann gene: homology to neural cell adhesions molecules. Presented to the

Endocrine Society Meeting. Las Vegas, Nevada, June 9-12, 1993.

21. Stetka, D.G., BICK, D.P., Meck, J.M., Baty, E.B., Schulman, J.D. Two cases of mosaic variegated

aneuploidy with microcephaly: a mutation that results in mitotic non-disjunction? Amer J Hum Genet 53:604,

1993.

22. Howard-Peebles, P.N., Fallon, L., Black, S.H., Maddalena, A., BICK, D.P., Levinson, G., Schulman, J.D.

Fragile X carrier screening in an obstetric population. Fourth International Fragile X Conference,

Albuquerque, NM. August 8-12, 1994.

23. Spence, W.C., Maddalena, A., Demers, D.B., BICK, D.P. Prenatal determination of the genotype in

fetuses at risk for RhD and RhE hemolytic disease of the newborn. Am J Hum Genet 55: A9, 1994.

24. Black, S.H., Fallon, L., Cummings, E., Menapace-Drew, G., Maddalena, A., Spence, W.C., BICK, D.P.,

Levinson, G., Howard-Peebles, P.N. Molecular fragile X screening in pregnancy and egg donor populations.

Am J Hum Genet 55: A10, 1994.

25. Meck, J.M., Kozina, C., Stratakis, C., Garnica, A., BICK, D.P., Motz, M.K., Qin, N., Rennert, O. Mosaic

variegated aneuploidy with microcephaly: A rare cytogenetic syndrome. Am J Hum Genet 55: A111, 1994.

26. Layman, L.C., Peak, D.B., BICK, D.P., Sherins, R.J., Gray, M.R., Reindollar, R.H. Exon four

gonadotropin releasing hormone (GnRH) gene mutation in a sample of 117 patients with idiopathic

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hypogonadotropic hypogonadism. American Society for Reproductive Medicine. Seattle, WA. Oct. 7-12,

1995.

27. Black, S.H., Fallon, L., Maddalena, A., Cummings, E., Menapace-Drew, G., Spence, W.C., BICK, D.P.,

Levinson, G., Schulman, J.D., Howard-Peebles, P.N. Molecular Fragile X screening in normal populations.

Seventh International Workshop on the Fragile X and X-linked Mental Retardation. Tromso, Norway. August

2-5, 1995.

28. Maddalena, A., Spence, W.C., Demers, D.B., BICK, D.P. Prenatal detection of RhD, Rhc, RhE, and Kell

genotypes for management of pregnancies at risk for hemolytic disease of the newborn. Am J Hum Genet 57:

A50, 1995.

29. Spence, W.C., Maddalena, A., Howard-Peebles, P.N., BICK, D.P. Contribution of the molecular genetics

laboratory to the evaluation of the persistently hypotonic infant. Am Ped Society and Society Pediatr Research

39(4) pt. 2:148A, 1996.

30. BICK, D.P., Stanley, W.S., Stern, H.J., Berkovitz, G.D., Meyers, C.M., Kelley, R.I. Prenatal diagnosis of

Smith-Lemli-Opitz syndrome (SLO) in a sex-reversed fetus. Am J Hum Genet 61:4(A838), 1997.

31. Stavropoulos, D.J., Barrett, I.J., Lomax, B.L., BICK, D.P., Bernasconi, F., Robinson, W.P., Kalousek,

D.K. Association of prenatally diagnosed confined placental mosaicism (CPM) and fetal gonadal mosaicism.

Am J Hum Genet 61:4(A934), 1997.

32. Layman, L.C., Kalimullah, E., Boachie-Ansah, G., Xie, J., Jin, M., Amde, S., Shah, S. Kawada, P.,

Pampoonsup, W., Sherins, R.J., BICK, D.P. The low frequency of Kallmann syndrome (KAL) gene mutations

in humans with hypogonadotropic hypogonadism suggests non-X linked modes of inheritance. Society of

Gynecologic Investigation, 1997.

33. Lavenstein, B., BICK, D.P., Rinaldo, P. Ethylmalonic aciduria in short-chain acyl CoA dehydrogenase

deficiency: Recognition of the phenotype, genetic polymorphism and clinical implications. Ann of Neuro 42:

P118, 1997.

34. Joseph, N., BICK, D.P., Howard-Peebles, P.N., Overhauser, J., Marinescu, R. C., Li, M.M. Molecular

characterization of a patient with oculo-auriculo-vertebral spectrum. Am J Hum Genet 63:4(A784), 1998.

35. Bhagavath, B., Ozata, M., Golu, E., Ozdemir, I.C., BICK, D.P., Sherins, R, Layman, LC. Prevalence of

gonadotropin-releasing hormone receptor mutations in humans with idiopathic hypogonadotropic

hypogonadism. Endocrine Society Meeting, 85th Annual Meeting, June, 2003.

36. Klein, O.D, Cotter, P.D., Weiss, A., BICK, D.P., Albertson, D.G., Pinkel, D., Rauen, K.A. Interstitial

deletion of chromosome 12q: Genotype-phenotype correlation of 2 patients utilizing array comparative

genomic hybridization. ACMG, 10th Annual Meeting, Kissimmee, FL, March, 2004.

37. Duffy, K., BICK, D.P., vanTuinen, P., Dugan, S., Olivier, M. Somatic partial chromosome 11 duplication

in a patient with Proteus Syndrome. ACMG 13th Annual Meeting, Nashville, TN, March, 2007.

38. Schneider, R.J., Lau, E., Schur, B., Wong, S., BICK, D.P. Development of a rapid protocol for molecular

diagnosis of spinal muscular atrophy in preimplantation genetic diagnosis by whole genome amplification

and pyrosequencing. Clin Chem, 53(6): A152-A153 C-158 Supp. S. June, 2007.

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39. Duffy, K., BICK, D.P., vanTuinen, P., Dugan, S., Yilmaz, A., Schwartz, C., Foulkes, W., Olivier, M.

Somatic partial chromosome 11 duplication in patients with Proteus Syndrome. ASHG Annual Meeting, San

Diego, CA, October, 2007.

40. Trapane, P., Jarzembowski, J., BICK, D.P., Rhead, W., Wargowski, D., Aradhya, S., Mitchell, A., Veith,

R. Microdeletion at 9q33.3q34.11 encompassing the LMX1B and ENG genes: A case report. American

Society of Human Genetics Annual Meeting, Philadelphia, PA, November 11-16, 2008.

41. Veith, R., Swanson, A., Denny, A., Leuthner, S., Mitchell, A., BICK, D.P. 18q12.1 Interstitial

microduplication in mother and child: A case report. American Society of Human Genetics Annual Meeting,

Philadelphia, PA, November 11-16, 2008.

42. Mirza, S.P., Duffy, K., Chesnik, M.A., Cole, R., BICK, D.P., Olivier, M. Revealing the mystery behind

'The Elephant Man': Proteomic characterization of Proteus Syndrome. 57th ASMS Conference on Mass

Spectrometry, Philadelphia, PA, May 31, 2009.

43. Rhead, W.R., Wells, C., BICK, D.P., Margolis, D., Kishnani, P., Bali, D., Young, S., White, A. Immune

Modulation Therapy in a CRIM Negative Pompe Disease Patient Blocks Antibody Formation Towards

Myozyme, Reverses Cardiomyopathy, and Prolongs Survival. International Congress of Inborn Errors of

Metabolism, San Diego, CA, August 29-September 2, 2009.

44. Dimmock, D., Worthy, E., Mayer, A., Verbsky, J., BICK, D.P., Routes, J., Schannen, M., Helbling, D.,

Schauer, D., Veith, R., Jacob, H., Clinical Utility of Whole Exome Sequencing in the Diagnosis of a Child.

American College of Medical Genetics Annual Meeting, Albuquerque, NM, March, 2010.

45. Sekhri, N., VanTuinen, P., Broeckel, U., BICK, D.P. 11p15.4p15.5 Duplication Associated with Russell-

Silver Syndrome. American College of Medical Genetics Annual Meeting, Albuquerque, NM, March 24,

2010.

46. Lau, E., Janson, M., Ball, C., Roesler, M., Strawn, E., BICK, D.P. Advances in PGD. BIT Life Sciences

2nd World DNA and Genome Day-2011 Congress. Dalian, China, April 25, 2011.

47. Veith, R., Dimmock, D., BICK, D., White, A., Dugan, S. Clinical Whole Genome Sequencing: Genetic

Counseling and Informed Consent for Anticipated Incidental Findings Collection. American College of

Medical Genetics Annual Meeting, Vancouver, Canada, March, 2011.

48. Dimmock, D., Willoughby Jr., R., Leuthner, S., Veith, R., Gutzeit, M., May, T., Hambuch, T., Worthey,

E., Jacob, H., Tschannen, M., North, P., BICK, D. Clinical Whole Genome Sequencing: One Center's

Experience. American College of Medical Genetics Annual Meeting, Vancouver, Canada, March, 2011.

49. Taylor, B., Jacob, H., Schauer, D., North, P., Sander, T., McQuestion, G., BICK, D., Dimmock, D.

Experience with the analysis and management of data from whole genome sequencing in clinical practice.

American College of Medical Genetics, Vancouver, Canada, March, 2011.

50. Gargis, A.S., Kalman, L.V., Berry, M., BICK, D.P., Dimmock, D.P., Hambauch, T.M., Lu, F., Lyon, E.,

Voelkerding, K.V., Zehnbauer, B.A., Lubin, L.M., and Working Group. Next Generation Sequencing-

Standardization of clinical testing (NEX-StoCT): Approaches to quality assurance and complying with

regulatory and professional standards. Association for Molecular Pathology's 2011 Annual Meeting,

Grapevine, TX, November 17-19, 2011.

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51. Lemke, A.A., BICK, D., Dimmock, D., Veith, R. Perspectives of Genetic Professionals toward Clinical

Genome Sequencing and Incidental Findings. American Society of Bioethics and Humanities. Annual

Education Conference, Raleigh, NC. 2012, Submitted.

52. Schiller, J.J., Hopp, K.A., Pietz, B.C., BICK, D.P., Lau, E.C., Ellis, T.M. A Simplified Method for

Screening Siblings for HLA Identity Using Short Tandem Repeat (STR) Polymorphisms. Hum Immunol 2013

Jan 3.

53. Lindhurst, M.J., Wang, J., Bloomhardt, H., Wikowski, A.M., Singh, L.N., BICK, D.P., Gambello, M.J.,

Powell, C.M., Darling, T.N., Lee, C. R., Biesecker, L.G. AKT1 gene mutation levels are correlated with the

type of dermatologic lesions in patients with Proteus syndrome. American Society of Human Genetics Annual

Meeting, Boston, MA, Oct 22, 2013.

54. Kreissl, M., Sandaraduar, S.A., Dowling, J.J., Kostyukova, A.S., Moroz, N., Quilan, K.G., Vilma-Lotta,

L., Ravenscroft, G., Todd, E.J., Ceyhan-Dirsoy, O., Gokhin D.S., Maluenda, J., Lek, M., Nolent, F., Pappas,

C.T., Novak, S.M., D'Amico, A., Malfatti, E., Thomas, B.P., Gabriel, S.B., Gupta, N., Daly, M.J., Ilkovski,

B., Houweling, P.J., Swanson, L.C., Brownstein, C.A., Gupta, V.A., Medne, Shannon, P., Martin, N., BICK,

D.P., Flisberg, A., et. al. Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament

organisation in skeletal muscle. Submitted to World Muscle Society, 10-7-14 and New Directions in Biology

and Disease of Skeletal Muscle Conference, 06-29-14.

55. Mankad, J. and BICK, D. Case of Recurrent, Severe Rhabdomyolysis with Chronic Pain and Dysphagia

Cause by Novel Mutation in RYR1 Gene. Poster Session 5, American Academy of Neurology 68thAnnual

Meeting, Vancouver, BC, Canada, 2014.

56. Intragenic SCN1A microdeletion in a patient with infantile-onset epilepsy highlights the range and

limitations of microarrays and DNA sequencing. ACMG Annual Meeting, Salt Lake City, UT, March 2015.

57. Brar, R., Peterson, J., Basel, D., VanTuinen, P., BICK, D.P., and Weik, L. Medical College of Wisconsin,

Wisconsin Diagnostic Laboratories, HudsonAlpha Institute for Biotechnology, Poster Presenter: Randeep

Brar, ACMG Annual Clinical Genetics Meeting, Phoenix, AZ, 2017.

58. Hott, A., East, K, Kelley, W., Cochran, M., BICK, D.P., and Korf, B., Genome Gateway: An Online

Platform to increase communication between patients, providers and researchers. (Program #541) Presented

at the 67th Annual Meeting of the American Society of Human Genetics, Orlando, FL, 2017.

59. BICK, D.P., East, K., Kelley, W., Aiken, C., Crouse, A., Jacob, H., Hott, A., Lamb, N., Schroeder, M.,

Birch, C., Brown, D., Handley, L., Newberry, S., Worthey, E., and Cochran, M. Elective Whole Genome

Testing in Clinical Practice. (Program #2593) Presented at the 67th Annual Meeting of the American Society

of Human Genetics, Orlando, FL 10/18/2017.

60. Hott, A.; East, K., Kelley, W. Cochran, M. BICK, D.P., and Lamb, N. Patient and Participant Engagement

Genomics Through an Electronic Delivery Platform. Poster. Presenter: Adam Hott. Presented at: ACMG

Annual Clinical Genetics Meeting, Charlotte, NC, 2018.

61. Hayeems, R.Z., Dimmock, D.P., BICK, D.P., Belmont, J.W., Green, R.C., Lanpher, B., Jobanputra, V.,

Mendoza, R., Kulkarni, S., Grove, M.E., Taylor, S.L., and Ashley, E., on behalf of the Medical Genome

Initiative., Poster. Presented at ACMG Annual Clinical Genetics Meeting, San Antonio, TX, 2020