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CURRICULUM VITAE

JEFF M. MILUNSKY, M.D., F.A.C.M.G.

Professor of Pediatrics, Genetics and Genomics

Co-Director, Center for Human Genetics Director of Clinical Genetics

Senior Director, Molecular Genetics Center for Human Genetics

Boston University School of Medicine BORN: Boston, Massachusetts EDUCATION: 1984-88 Bachelor of Arts, cum laude; major: Biology Boston University 1988-92 M.D., magna cum laude Boston University School of Medicine TRAINING/FELLOWSHIP: 1992-95 Residency in Pediatrics Boston Floating Hospital, Tufts New England Medical Center Boston, MA 1995-1997 Fellow, Clinical Genetics Center for Human Genetics Boston University School of Medicine Boston, MA 1997-1998 Fellow, Clinical Molecular Genetics

Center for Human Genetics Boston University School of Medicine

Boston, MA ACADEMIC/CLINICAL APPOINTMENTS: 1996 Instructor in Pediatrics Boston University School of Medicine Boston, MA 1997- Director, Clinical Genetics Present Center for Human Genetics and Department of Pediatrics Boston University School of Medicine Boston, MA

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1997- Assistant Professor of Pediatrics 2002 Boston University School of Medicine Boston, MA 1999- Associate Director, Molecular Genetics 2011 Center for Human Genetics and Department of Pediatrics

Boston University School of Medicine Boston, MA

2002- Associate Professor of Pediatrics 2008 Boston University School of Medicine Boston, MA 2002- Associate Professor of Genetics and Genomics 2008 Boston University School of Medicine Boston, MA 2002- Associate Director, Center for Human Genetics 2008 Boston University School of Medicine Boston, MA 2003- Division of Graduate Medical Science Faculty Present Boston University School of Medicine Boston, MA

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2005- Medical Director, Masters Degree Program in Genetic Counseling Present Graduate School of Medical Sciences, Boston University School of Medicine Boston, MA 2008- Professor of Pediatrics Present Boston University School of Medicine Boston, MA 2008- Professor of Genetics and Genomics Present Boston University School of Medicine Boston, MA 2008- Co-Director, Center for Human Genetics Present Boston University School of Medicine Boston, MA 2009- Director, Clinical Cytogenetics/Clinical Molecular Genetics Present Fellowship Program Center for Human Genetics Boston University School of Medicine Boston, MA 2011- Senior Director, Molecular Genetics Present Center for Human Genetics

Boston University School of Medicine Boston, MA RESEARCH GRANTS: 1. Fine Mapping of the Major Gene Causing Familial Paragangliomas (PGL1) American Cancer Society Principal Investigator: Jeff Milunsky, M.D. 1/1/99-12/31/99 2. Connexin-26 Mutation Detection of Deaf Children Identified through Newborn Hearing Screening Marjorie C. Adams Charitable Trust Principal Investigator: Jeff Milunsky, M.D. 9/1/99-8/31/00 3. Genetic Analysis of Deaf Children Identified through Newborn Hearing Screening Marjorie C. Adams Charitable Trust Principal Investigator: Jeff Milunsky, M.D. 9/1/00-8/31/01 4. Genetics In Primary Care Project

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HRSA Principal Investigator: Benjamin Siegel, M.D. 9/1/00-6/30/01 5. Identify Waardenburg Syndrome type II Loci in Man NIDCD K23 Career Development Award Principal Investigator: Jeff Milunsky, M.D. 7/1/01-6/30/06 6. Early Hearing Detection and Intervention (EHDI) Tracking, Research, and Integration Cooperative Agreement Center for Disease Control and Prevention Principal Investigator: Peter Simon, M.D., M.P.H. 3/1/02-8/31/06 (Subcontract to Jeff Milunsky, M.D.) 7. Identify Genes Causing Kabuki Syndrome NICHD R01 HD047824 Principal Investigator: Jeff Milunsky, M.D. 6/15/04-5/31/07 8. Benign Paroxysmal Torticollis of Infancy Joel and Barbara Alpert Endowment Principal Investigator: Laurie Douglass, M.D. 7/1/05-6/30/06 (Jeff Milunsky, M.D.: Co-Investigator) 9. Genetic Testing in Children with Autism Boston Autism Consortium Principal Investigator: Jeff Milunsky, M.D. 01/01/07-12/31/08 TEACHING: 1995- Pediatrics Clinical Core Rotation, Boston University School of Medicine III: Present Clinical Genetics Lecture 1997- Lecturer, Human Genetics, Boston University School of Medicine I Present 1999- Course Manager, Human Genetics, Boston University School of Medicine I 2003 1999- Postdoctoral Trainer in Clinical Molecular Genetics, Center for Human Present Genetics, BUSM 2000- Lecturer, Introduction to Human Genetics (GMS MS781), Boston University 2001 School of Medicine

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2001 Course Co-Director, Genetics for Clinicians CME Course, Boston University School of Medicine 2002 Minicourse Co-Director, Genetics for the Pediatrician, SPR/APS Annual Meeting, Baltimore, MD. 2003 Lecturer, Introduction to Human Genetics (GMS MS781), Boston University School of Medicine 2003- Discussion Leader, Genetics of Hearing Impairment, ENT Residency 2004 Program, Boston University School of Medicine 2004- Co-Facilitator, Canadian/New England (CANNEW) Clinical Genetics 2005 Presentations, New England Regional Genetics Group 2005 Course Co-Director, Genetics for Clinicians CME Course, Boston University School of Medicine 2005- Course Manager, Clinical Applications in Human Genetics (GMS GC605), Present Boston University School of Medicine.

2006- Course Manager, Clinical Genetics (GMS GC602), Present Boston University School of Medicine 2007- Course Manager, Advanced Topics in Medical Genetics (GMS GC714), Present Boston University School of Medicine 2011 Co-Facilitator, Canadian/New England (CANNEW) Clinical Genetics Presentations, New England Regional Genetics Group 2011 Course Co- Director, Genetics for Clinicians CME Course, Boston University School of Medicine BOARD CERTIFICATION: 1995 Board Certified in Pediatrics: Diplomate of the American Board of Pediatrics 1999 Board Certified in Clinical Genetics: Diplomate of the American Board of Medical Genetics 1999 Board Certified in Clinical Molecular Genetics: Diplomate of the American Board of Medical Genetics 2002 Recertified in Pediatrics: Diplomate of the American Board of Pediatrics 2008 Recertified in Clinical Genetics 2009 Recertified in Clinical Molecular Genetics

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HONORS: 1985-88 Dean's List for Five Semesters 1987 Scholastic All-American Collegiate Natural Science Award 1987 Golden Key National Honor Society 1991 Alpha Omega Alpha, National Honor Medical Society 1991 Tinsley Harrison Award from the Southern Society for Clinical Investigation for the

Best Original paper Published in the American Journal of the Medical Sciences in 1991.

1992 National Dean's List 1992 Sigma Xi, Scientific Research Society 1992 Radiology Award for Outstanding Performance in the Elective in Diagnostic

Radiology 1992 Steven R. Preblud Memorial Award in Pediatrics for Outstanding Performance in all Aspects of the Pediatric Clerkship and Electives and for Those Qualities Thought Most Laudable in a Pediatrician 1992 Hewlett-Packard Company Medical Group Award for Outstanding Scholastic Achievement in Medicine (Awarded to Top Five Graduating Students) 1995 Emergency Medicine Award for Outstanding Performance during Pediatric Residency 2000 Society for Pediatric Research 2002 Fellow American College of Medical Genetics 2005 College of American Pathologists Lab Inspector 2010 BMA Medical Book Awards “Highly commended” Obstetrics and Gynecology for Genetic Disorders and the Fetus, 6th edition 2011 Boston Consumers Check Book 2011 Volume 4, No 2. Top Doctors in Boston Area (Genetics) COMMITTEES: 2001- Massachusetts Public Health Genetics Advisory Committee 2004 2002 Genetics in Primary Care Family History Taking National Workgroup

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2002- Co-chair, Clinical and Laboratory Services Committee, New England 2003 Regional Genetics Group 2005 American College of Medical Genetics Newborn Hearing Screening by Molecular Methods Workgroup 2005 Harvard University PhD Thesis Defense Committee (Robin Williamson, PhD) 2005- Massachusetts Universal Newborn Hearing Screening Program Advisory Present Committee Present 2006- Boston Autism Consortium, Clinical Genetics Standards Working Group 2009 2009 Harvard University PhD Thesis Defense Committee (Kristina Anne Roberts, PhD) Boston University 1988- Alumni Schools Committee 1996 1996- Pediatric Morbidity and Mortality Committee 2010 1998- Ad Hoc Advisory Committee to Develop New Guidelines for Medical 1999 School Applicant Procedures 1999- First Year Medical School Course Managers Committee 2003 1999- First Year Medical Student Promotions Committee 2004 2002- Seven Year Medical Student Admissions Committee Present 2003 Committee to Examine Restructuring of the Curriculum 2005- Masters of Genetic Counseling Steering Committee Present 2005- Masters of Genetic Counseling Admissions Committee Present 2005- Masters of Genetic Counseling Curriculum Committee Present 2005- Masters of Genetic Counseling Student Affairs Committee Present

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2005- Missions and Goals Working Group of Medical Education Committee 2008 2007- Chair, Vertical Integration Group in Genetics 2008 2007 Chair, Ad Hoc Masters of Genetic Counseling Reaccreditation Medical Curriculum Committee ADVISING/MENTORING 1999- Post-Doctoral Fellows in Clinical Molecular Genetics Present 1999- Post-Doctoral Fellows in Clinical Cytogenetics Present 1999- Genetic Counselors Present 2002- Physician Advisor to Boston University Medical Students 2004 2003 Ethics Discussion Facilitator for Boston University Medical Students 2005- Genetic Counseling Graduate Students Present 2008- Advisor at Large, Boston University School of Medicine Present 2009- Medical Genetics Resident Present PEER REVIEWER FOR JOURNALS: 1. JAMA

2. Pediatrics

3. American Journal of Medical Genetics

4. Journal of Medical Genetics

5. European Journal of Human Genetics

6. Clinical Genetics

7. Human Genetics

8. European Journal of Pediatrics

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9. Genetics in Medicine

10. Prenatal Diagnosis

11. Human Heredity

12. British Journal of Cancer

13. American Journal of Audiology

14. Community Genetics

15. Genetic Analysis (Biomolecular Engineering)

16. Clinical and Experimental Dermatology

17. Archives of Diseases in Childhood

PEER REVIEWER FOR GRANTS: 2000- Research Grants Council of Hong Kong 2003 2007 NIH Ad Hoc Review Group: Musculoskeletal, Oral and Skin Sciences PROFESSIONAL ADVISORY GROUP: 1. Kabuki Syndrome Network MEMBERSHIP, PROFESSIONAL SOCIETIES: 1999- American Society of Human Genetics Present 2000- Society for Pediatric Research Present 2002- American College of Medical Genetics Present AMERICAN BOARD OF MEDICAL GENETICS 1. Clinical Genetics Certification Exam Question Composer 2. Clinical Molecular Genetics Certification Exam Question Composer

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PUBLICATIONS: 1. Milunsky JM, Wyandt HE, Milunsky A. The emerging phenotype of duplication (7p): A report of three cases

and review of the literature. Am J Med Genet. 33:364-68;1989. 2. Skare JC, Milunsky JM, Milunsky A. L2, a DNA fragment from Xq24-q27, detects an EcoR1 RFLP (HGM9

NO.DXS12). Nucl Acids Res. 17:4909;1989. 3. Milunsky JM, Lee V, Siegel BS, Milunsky A. Agenesis or hypoplasia of major salivary and lacrimal glands. Am

J Med Genet. 37:371-374;1990. 4. Skare JC, Milunsky JM, Milunsky A, Skare I, Cohen A, Skinner M. A new transthyretin variant from a patient

with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. Clin Genet. 39:6-12;1991.

5. Milunsky JM, Skare JC, Milunsky A. Presymptomatic and prenatal diagnosis of myotonic muscular dystrophy

with linked DNA probes. Am J Med Sci. 301(4):231-237;1991. 6. Milunsky A, Amos JA, Milunsky JM, Maher T, Skare JC. Prenatal diagnosis of myotonic muscular dystrophy

with linked DNA probes. Am J Obstet Gynecol. 164(3):751-755;1991. 7. Marks JL, Wyandt HE, Beazley RM, Milunsky JM, Milunsky A. Cytogenetic studies of an adrenal cortical

carcinoma. Cancer Genet Cytogenet. 61:96-98;1992. 8. Wyandt HE, Milunsky JM, Lerner T, Gusella JF, Hou A, MacDonald M, Adekunle S, Milunsky A.

Characterization of a duplication in the terminal band of 4p by molecular cytogenetics. Am J Med Gen. 46:72-76;1993.

9. Milunsky JM, Milunsky A. Cystic fibrosis and embryonal carcinoma of the testis. Am J Med Sci. 311:191-192;

1996. 10. Milunsky JM, Wyandt HE, Milunsky A. Familial supernumerary chromosome abnormality and malignancy.

Cancer Genet Cytogenet. 89:170-172;1996. 11. Milunsky JM, Wyandt HE, Huang X-L, Kang X-Z, Elias ER, Milunsky A. Trisomy 15 Mosaicism and Uniparental

Disomy (UPD) in a Liveborn Infant. Am J Med Gen. 61:269-273;1996. 12. Milunsky JM, Genest DR, Milunsky A. Renal Tubular Dysgenesis with Microcephaly. Pediatr Nephrol

11:494;1997. 13. Milunsky JM, DeStefano A, Huang X-L, Baldwin CT, Michels VV, Jako G, Milunsky A. Familial Paragangliomas:

Linkage to Chromosome 11q23 and Significant Clinical Implications. Am J Med Gen 72:66-70;1997. 14. Korkko J, Milunsky JM, Prockop DJ, Ala-Kokko, L. Use of Conformation Sensitive Gel Electrophoresis to Detect

Single-Base Changes in the Gene for COL10A1. Hum Mutation Supplement 1:S201-S203;1998. 15. Milunsky JM, Maher T, Lebo R, Milunsky A. Prenatal Diagnosis for Schmid Metaphyseal Chondrodysplasia in

Twins. Fetal DiagTher 13:167-168;1998. 16. Milunsky JM, Huang X-L, Baldwin C, Farah M, Milunsky A. Evidence for Genetic Heterogeneity of the Carney

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Complex (Familial Atrial Myxoma Syndromes). Cancer Genet Cytogenet 106:173-176;1998. 17. Lebo RV, Milunsky JM, Loose B, Huang X-L, Wyandt HE. Symmetric Replication of an Unstable Isodicentric Xq

Chromosome Derived from Isolocal Maternal Sister Chromatid Recombination. Am J Med Genet 85:429-437;1999.

18. Milunsky JM, Suntra C, MacDonald CB. Congenital Stapes Ankylosis, Broad Thumbs and Hyperopia – A

Report of a Family and Refinement of a Syndrome. Am J Med Genet 82:404-408;1999. 19. Milunsky JM, Huang X-L, Wyandt HE, Milunsky A. Schizophrenia Susceptibility Gene Locus at Xp22.3. Clin

Genet 55:455-460;1999. 20. Hodge SE, Lebo RV, Yesley AR, Cheney SM, Angle H, Milunsky JM. Calculating Posterior Cystic Fibrosis Risk

with Echogenic Bowel and One Characterized CF Mutation: Avoiding Pitfalls in the Risk Calculations. Am J Med Genet 82:329-335;1999.

21. Milunsky A, Huang X-L, Milunsky JM, DeStefano A, Baldwin CT. A locus for autosomal recessive

achromatopsia on human chromosome 2q. Clin Genet 56:82-85;1999. 22. Milunsky JM, Cheney SM. Prenatal Diagnosis of Spinal Muscular Atrophy by Direct Molecular analysis: Efficacy

and Potential Pitfalls. Genetic Testing 3:255-258;1999. 23. Wyandt HE, Lebo RV, Fenerci EY, Sadhu DN, Milunsky JM. Tandem duplication/deletion in a maternal

supernumerary derivative 9 chromosome resulting in 9p trisomy and partial 9q tetrasomy. Am J Med Genet 93:305-312;2000.

24. Vaughn SP, Broussard S, Hall CR, Scott A, Blanton SH, Milunsky JM, Hecht JT. Confirmation of the mapping of the Camurati-Engelmann locus to 19q13.2 and refinement to a 3.2 cM

region. Genomics 66(1):119-121; 2000. 25. McCallum TJ, Milunsky JM, Cunningham DL, Harris DH, Maher TA, Oates RD. Fertility in the Male with Cystic

Fibrosis: An Update on Current Surgical Practices and Outcomes. Chest 118: 1059-1062;2000. 26. Milunsky JM, Maher TA, Yosunkaya E, Vohr BR. Connexin-26 Gene Analysis in Hearing Impaired Newborns.

Genetic Testing 4(4):345-349; 2000. 27. Lebo RV, Maher T, Farrer L, Fenerci EY, Milunsky JM. Highly Polymorphic Short Tandem Repeat Analyses

Clarify Complex Molecular Test Results. Diag Mol Path 10(3):179-189;2001.

28. McCallum TJ, Milunsky JM, Munarriz R, Carson R, Sadeghi-Nejad H, Oates RD. Unilateral Renal Agenesis (URA) associated with congenital bilateral absence of the vas deferens (CBAVD): Phenotypic findings and genetic considerations in a large cohort of affected men. Human Reproduction 16(2): 282-288;2001.

29. Hecht JT, Blanton SH, Broussard S, Scott A, Hall CR, Milunsky JM. Evidence

for Locus Heterogeneity in the Camurati-Engelmann (DPDI) Syndrome. Clin Genet 59: 198-200; 2001. 30. Milunsky JM, Maher TA, Michels VV, Milunsky A. Novel Mutations and the emergence of a common

mutation in the SDHD gene causing Familial Paraganglioma. Am J Med Genet 100: 311-314; 2001. 31. Lebo RV, Ikuta T, Milunsky JM, Milunsky A. Rett Syndrome from quintuple and triple deletions within the

MECP2 deletion hotspot region. Clin Genet 59:406-417;2001.

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32. Milunsky JM, Lebo RV, Ikuta T, Maher TA, Haverty CE, Milunsky A. Mutation Analysis in Rett Syndrome.

Genetic Testing 5(4):321-325;2001. 33. Wang Z, Milunsky JM, Yamin M, Maher T, Oates R, Milunsky, A. Analysis by mass spectrometry of 100

cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens. Human Reproduction 17(8):2066-2072;2002.

34. Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance

MM. Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin. Am J Hum Genet 71:618-624;2002.

35. Lebo RV, Wyandt HE, Warburton PE, Li S, Milunsky JM. An unstable dicentric Robertsonian translocation

in a markedly discordant twin. Clin Genet 62(5):383-389;2002. 36. Milunsky JM, Maher TA, Metzenberg AB. Molecular, Biochemical, and Phenotypic Analysis of a

Hemizygous Male With a Severe Atypical Phenotype for X-Linked Dominant Conradi-Hunermann-Happle Syndrome and a Mutation in EBP. Am J Med Genet 116(3):249-54;2003.

37. Milunsky JM, Capin DM. Cerebro-Oculo-Facial-Lymphatic Syndrome (COFL). Clin Genet 63:291-

296;2003. 38. Stevenson VA, Ito M, Milunsky JM. Connexin 30 Deletion Analysis in Connexin 26 Heterozygotes. Genet

Test 7:151-154; 2003. 39. Milunsky JM, Maher TA, Loose BA, Darras BT, Ito M. XL PCR for the Detection of Large Trinucleotide

Expansions in juvenile Huntington’s disease. Clin Genet 64:70-73;2003. 40. Milunsky JM, Huang XL. Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by

comparative genomic hybridization and BAC-FISH. Clin Genet 64: 509-516;2003. 41. Shim SH, Pan A, Huang XL, Tonk VS, Varma SK, Milunsky JM, Wyandt HE. FISH Variants With D15Z1. J

Ass Genet Tech 29(4):147-151;2003. 42. Milunsky JM, Maher TA. Fragile X carrier screening and spinocerebellar ataxia in older males. Am J Med Genet 125A:320; 2004. 43. Siegel B, Milunsky JM. When should the possibility of a genetic disorder cross

your radar screen? Contemp Pediatr 21(5):30-45;2004. 44. Ivan CS, Saint-Hilaire MH, Christensen TG, Milunsky JM. Adult-Onset Neuronal Ceroid Lipofuscinosis Type

B in an African American. Mov Disord 20(6): 752-754; 2005. 45. Mark HFL, Wyandt H, Huang XL, Milunsky JM. Delineation of a Supernumerary Marker Chromosome

Utilizing a Multimodal Approach of G-Banding, FISH, Confirmatory PAC-FISH and High Resolution CGH. Clin Genet 68:146-151;2005.

46. Milunsky A, Shim SH, Ito M, Jaekle RK, Bassett LL, Brummund MR, Milunsky JM. Precise Prenatal

Diagnosis of Tuberous Sclerosis by Sequencing the TSC2 Gene. Prenatal Diag 25(7):582-585;2005.

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47. Mark HFL, Wyandt H, Pan A, Milunsky JM. Constitutional Partial 1Q Trisomy Mosaicism and Wilms Tumor. Cancer Genet Cytogenet. Cancer Genetics and Cytogenetics 162 (2005) 166-171;2005.

48. Wyandt HE, Tonk VS, Huang XL, Evans AT, Milunsky JM, Milunsky A. Correlation of Abnormal Rapid

FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis. Fetal Diag Ther , Vol. 21 (2): 235-240;2006.

49. Wyandt HE, Shim SH, Huang XL, Mark HFL, Milunsky JM. Duplication of 11p14.3-p15.1 in a Mentally

Retarded Proband and his mother detected by G-Banding and Confirmed by High-Resolution CGH and BAC FISH. Exp Mol Pathol 80: 262-266; 2006.

50. Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB. LADD syndrome is caused by FGF10 mutations.

Clin Genet 69: 349-354; 2006. 51. Flynn M, Milunsky JM. Autosomal Dominant Syndrome Resembling Coffin-Siris Syndrome. Am J Med

Genet 140A: 1326-1330; 2006. 52. Vaglio A, Gonzalo G, Bernal M, Sanguinetti C, Mechoso B, Quadrelli A, Tucci P, Milunsky JM, Huang XL,

Pagano S, Quadrelli R. Prenatal and Postnatal characterization of a de novo Xq22.1 terminal deletion. Genet Test 10: 272-276; 2006.

53. Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Sadaf Farooqi I, Rand CM, Weese-

Mayer DE. Rapid Onset Obesity with Hypothalamic Dysfunction, Hypoventilation and Autonomic Dysregulation Presenting in Childhood. Pediatrics 120: e179-e188; 2007.

54. Milunsky JM, Maher TA, Ito M, Milunsky A. The Value of MLPA in Waardenburg Syndrome. Genet Test

11:179-182; 2007. 55. Conway R, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara P, Butler MG, Zackai E,

Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil D, Harding B, Graham JM. Neuroimaging Findings in Macrocephaly-Capillary Malformation: A Longitudinal Study of 17 Patients. Am J Med Genet A. 143(24):2981-3008; 2007.

56. Caronna E, Milunsky JM, Tager-Flusberg H. Autism: Clinical and Research Frontiers. Arch Dis Child.

93:518-523; 2008. 57. Weiss L, Shen Y, Korn J, Arking D, Miller D, Fossdal R, Saemundsen E, Stefansson H, Ferreira M, Green T,

Platt O, Ruderfer D, Walsh C, Investigators of the Autism Consortium (including Milunsky JM), Chakravarti A, Tanzi R, Stefansson K, Santangelo S, Gusella J, Sklar P, Wu B, Daly M. A recurrent genetic cause of autism: microdeletion at 16p11.2. N Engl J Med. 358(7):667-75; 2008.

58. Milunsky JM, Maher T, Zhao G, Roberts A, Stalker H, Zori, R, Burch, M, Clemens M, Mulliken J, Smith R,

Lin A. TFAP2A mutations result in Branchio-Oculo-Facial syndrome. Am J Human Genet. 82(5):1171-1177; 2008.

59. Milunsky A, Ito M, Maher T, Flynn M, Milunsky JM. Prenatal molecular diagnosis of Tuberous Sclerosis. Am

J Obstet Gynecol 2009:321-324;2009. 60. Zou Y, Huang XL, Ito M, Newton S, Milunsky JM. Further delineation of the critical region for the 9p-

duplication syndrome. Am J Med Genet 149A:272-276;2009.

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61. Zou Y, Milunsky JM. Developmental Disability and Hypomelanosis of Ito in a Female with 7.3 Mb de Novo Duplication of Xp11.3-p11.4 and Random X Inactivation. Am J Med Genet A. 149A (11):2573-7;2009.

62. Zhang C, Milunsky JM, Newton S, Ko J, Zhao G, Maher T, Tager-Flusberg H, Bolliinger M, Carter A,

Boucard A, Powell C, Sudhof T. A Neuroligin-4 Missense Mutation Associated With Autism Impairs Neuroligin-4 Folding and ER Export. Journal of Neuroscience. 29(35):10843-10854; 2009.

63. Zou Y, Newton S, Milunsky JM. A complex maternal rearrangement results in a Pure 10.9 Mb Duplication of

the 5q13.1-q14.1 Region in an Affected Son. Am J Med Genet A. 152A (2):498-503;2010. 64. Shen Y, Dies KA, Holm IA, Sobeih M, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Bridgemohan C,

Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Milunsky JM, Rappaport L, Wu BL, Miller DT. Clinical Genetic Testing for Patients with Autism Spectrum Disorders. Pediatrics. 125(4):e727-35; 2010.

65. Jamal SM, Basran RK, Newton S, Wang Z, Milunsky JM. Novel de novo PCDH19 Mutations in Three

Unrelated Females with Epilepsy Female Restricted Mental Retardation Syndrome. Am J Med Genet A. 152A(10):2475-81;2010.

66. Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gemmill G, Drabkin H,

Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS. A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Non-Disjunction: The t (8;22)(q24.13;q11.21). Am J Human Genet. 87:1-10;2010.

67. Leon E, Zou Y, Milunsky JM. Mosaic Down Syndrome In A Patient With Low-Level Mosaicism Detected by

Microarray. Am J Med Genet A. 152A(12):3154-6;2010. 69. Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M,

Burch M, Ch_enier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, ReardonW, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE. 2011.Genotype–phenotype analysis of the branchio-oculo-facial syndrome. Am J Med Genet A. 155A(1):22-32;2011.

70. Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, Joober R, Lacaille JC, Nadeau A,

Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA, Michaud JL. De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism. Biol Psychiatry. 1;69(9):898-901; 2011.

71. Leon E, Jamal SM, Zou YS, Milunsky JM. Partial trisomy 8 mosaicism due to a pseudoisodicentric

chromosome 8. Am J Med Genet Part A (in Press). 72. Nash K, Jeng L, Wang Z, Milunsky JM, Sullivan J. Ictal Hypoxemia in 3 Cases of PCDH19-Related

Epilepsy. (Submited).

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Textbooks 1. Milunsky A and Milunsky JM. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 6th

Edition, Wiley-Blackwell, U.K. 2010. BOOK CHAPTERS: 1. Milunsky JM, Milunsky A. Genetic Counseling in Perinatal Medicine. In: New Trends and Controversies in Fetal

Diagnosis and Therapy. Obstet & Gynec Clinics of N Amer 24:1-17;1997. 2. Milunsky A, Milunsky JM. Genetic Counseling: Preconception, Prenatal, and Perinatal. In: Milunsky A (Ed.)

Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 4th Edition, Johns Hopkins University Press, Baltimore, 1998.

3. Milunsky JM, Milunsky A. Genetic Counseling in Prenatal and Perinatal Medicine. In: Reece EA, Hobbins JC

(Eds.) Medicine of the Fetus and Mother, 2nd Edition, Lippincott-Raven, Philadelphia, 1999. 4. Milunsky JM. (July 2001) Waardenburg Syndrome Type 1 in: GeneReviews at GeneTests: Medical Genetics

Information Resource [database online]. Copyright, University of Washington, Seattle. 1997-2003. Available at www.genetests.org.

5. Milunsky JM (updated October 2003) Waardenburg Syndrome Type 1 in: GeneReviews at GeneTests:

Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997-2003. Available at www.genetests.org.

6. Milunsky JM, Pelton SI. Clinical and Genetic Perspectives in Primary Immunodeficiency Disorders. In:

Pier G, Wetzler L, Lyczak J (Eds.) Immunology, Infection and Immunity, ASM Press, Washington DC, 2004. 8. Milunsky JM. Prenatal Diagnosis of Sex Chromosome Abnormalities. In: Milunsky A (Ed.) Genetic Disorders

and the Fetus: Diagnosis, Prevention and Treatment, 5th Edition, Johns Hopkins University Press, Baltimore, 2004.

9. Milunsky A, Milunsky JM. Genetic Counseling: Preconception, Prenatal, and Perinatal. In: Milunsky A

(Ed.) Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 5th Edition, Johns Hopkins University Press, Baltimore, 2004.

10. Milunsky JM (updated January 2006) Waardenburg Syndrome Type 1 in: GeneReviews at GeneTests:


11. Milunsky JM, Milunsky A. Genetic Counseling in Prenatal and Perinatal Medicine. In: Reece EA, Hobbins JC

(Eds.) Clinical Obstetrics, The Fetus and the Mother, 3rd Edition, Blackwell Press, Oxford, UK, 2007. 12. Milunsky JM. FGF10, FGFR2 and FGFR3 and the Lacrimo-Auriculo-Dental-Digital (LADD) Syndrome. In:

Epstein C, Erickson R, Wynshaw-Boris A (Eds.) Inborn Errors of Development, 2nd Edition, Oxford University Press, Oxford UK. 2008.

13. Milunsky JM. (updated August 2009) Waardenburg Syndrome Type 1 in: GeneReviews at GeneTests:

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14. Jamal SM., Milunsky JM. Waardenburg Syndrome. In: Murray M, Babyatski M, Giovanni M (Eds.) Clinical

Genomics: Practical Applications in Adult Patient Care, McGraw-Hill (In press). 15. Milunsky A, Milunsky JM. Genetic Counseling: Preconception, Prenatal and Perinatal. In: Genetic Disorders and

the Fetus: Diagnosis, Prevention and Treatment, 6th Ed., Wiley-Blackwell, U.K. 2010. 16. Milunsky JM. Prenatal Diagnosis of Sex Chromosome Abnormalities. In: Genetic Disorders and the Fetus:

Diagnosis, Prevention and Treatment, 6th Ed., Wiley-Blackwell, U.K. 2010. 17. Lin AE, Milunsky JM.(updated January 2011). Branchio-oculo-facial syndrome in: GeneReviews at

GeneTests Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997-2011.

ABSTRACTS/LETTERS 1. Milunsky JM, Skare JC. Experience with molecular probes for diagnosis of myotonic muscular dystrophy. Am J

Hum Genet. 45:A265;1989. 2. Skare JC, Grierson H, Wyandt HE, Sanger W, Milunsky JM, Purtilo D, Sullivan J, Milunsky A. Genetics of the

X-linked lymphoproliferative syndrome. Am J Hum Genet. 45:A161;1989. 3. Bejjani B, Milunsky JM, Amos JA, Skare JC, Hirose A, Milunsky A. Linkage studies in a family with

achromatopsia and mental retardation. Am J Hum Genet. 47:A208;1990. 4. Milunsky A, Amos JA, Milunsky JM, Maher T, Skare JC. Prenatal diagnosis of myotonic muscular dystrophy.

Pediat Res. 27:A134;1990. 5. Milunsky JM, Milunsky A. Agenesis or hypoplasia of major salivary and lacrimal gland (Reply). Am J Med

Genet. 41:270;1991. 6. Milunsky JM, Milunsky A. Colchicine, Breast Milk and Familial Mediterranean Fever (Letter). J Pediatr.

July:164;1991. 7. Amos JA, Milunsky JM, Skare JC, Milunsky A. Prenatal and presymptomatic diagnosis of myotonic muscular

dystrophy. Pediatr Res. 31(4):130A;1992. 8. Milunsky JM, Milunsky A, Skare JS, Amos JA. Presymptomatic and prenatal diagnosis of myotonic dystrophy.

Proceedings of 24th Annual Meeting European Society Human Genetics. 199:112-113;1992. 9. Milunsky JM, Wyandt HE, Amos JA, Kang Z, Huang XL, Elias E, Milunsky A. Trisomy 15 mosaicism and

uniparental disomy (UPD) in a liveborn infant. Am J Hum Gen. 55:A112;1994. 10. Milunsky JM, DeStefano A, Huang X-L, Baldwin C, Jako G, Milunsky A. Familial Paragangliomas: Linkage to

Chromosome 11q23 with Significant Clinical Implications. Am J Hum Gen. 59(4):A75;1996. 11. Milunsky JM, Huang X-L, Baldwin C, Farah M, Milunsky A. Evidence for genetic heterogeneity of the Carney

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complex (familial atrial myxoma syndromes). Am J Hum Gen. 61(4):A406;1997. 12. Wyandt HE, Huang X-L, Milunsky JM, Milunsky A. Familial Mosaicism for Small Supernumary Chromosomes.

Am J Hum Genet 61( 4):A2199;1997. 13. Becker LB, Milunsky JM, Milunsky A. Adolescent with a Y Chromosome Deletion: Language Profile. American

Speech-Language & Hearing Assoc. Annual Meeting, Boston, MA. November1997. 14. LaSalle MD, Chan A, Brown LG, Page DC, Milunsky JM, Oates RD. Y chromosomal microdeletions and

karyotypic abnormalities in men with spermatogenic dysfunction. Amer. Urol. Soc. Annual Meeting, May, 1998. 15. Wyandt H, Lebo R, Yosunkawa E, Sadhu DN, Milunsky JM. Molecular and cytogenetic characterization of

duplication/deletion in a supernumerary der(9) resulting in 9p trisomy and partial 9q tetrasomy in a stillborn. Am J Hum Genet 63(4):A698;1998.

16. Milunsky JM, Huang XL, Amemiya C, Wyandt HE, Milunsky A. Schizophrenia susceptibility gene locus on

Xp22.3? Am J Hum Genet 63(4):A1941; 1998. 17. Huang XL, Wyandt H, Milunsky JM. Familial mosaicism for supernumerary r(15) in mother and child ascertained

through an affected proband with supernumerary idic(15)(q12) and der(14)t(14;15)(p11;p11)pat. Am J Hum Genet 63(4):A778;1998.

18. Lebo RV, Maher T, Farrer L, Brock J-A, Milunsky JM. Selective highly polymorphic simple sequence repeat

analysis clarifies diagnoses. Am J Hum Genet 63(4):A1350;1998. 19. Milunsky A, Huang X, Milunsky JM, DeStefano A, Baldwin C. A Second Genetic Locus for Autosomal

Recessive Achromatopsia (ARA). Am J Hum Genet 63(4):A1740;1998. 20. Milunsky JM. Connexin-26 Gene Mutation Detection Using Guthrie Cards from Deaf Children Identified Through

the Rhode Island Audiology Screening Network. Centers for Disease Control and Prevention and Gaullaudet University, National Center for Environmental Health, Atlanta, GA. June, 1999

21. Milunsky JM, Yosunkaya E, Maher TA, Vohr, BR. Connexin-26 (Cx-26) gene mutation detection using Guthrie

cards from subsequently identified deaf children. Am J Hum Genet 65:A2293;1999. 22. Lebo RV, Maher T, Farrer L, Yosunkaya E, Milunsky JM. Minisatellite Analysis Clarifies Mutation, Nonidentity

and Sample History. Am J Hum Genet 65:A1209;1999. 23. Wyandt HE, Huang XL, Milunsky JM. Partial trisomy 16q in a full term infant, mosaic for an unbalanced

translocation, der(19)t(16;19)(q13;q13). Am J Hum Genet 65:A2052;1999. 24. McCallum TJ, Milunsky JM, Cunningham DL, Kuligowska, Oates RD. The Physical Laboratory, and

Radiographic Parameters Identified in Men with Congenital Bilateral Absence of the Vas Deferens (CBAVD) and Unilateral Renal Agenesis (URA). American Urological Association, 95th Annual Meeting. (Poster) Abstract 2642. May, 2000.

25. McCallum TJ, Milunsky JM, Burgess C, Harris D, Oates RD. What Are the Chances of a Child Inheriting

Bilateral or Unilateral Renal Agenesis from a Father with Congenital Bilateral Absence of the Vas Deferens (CBAVD) and Unilateral Renal Aplasia (URA)? American Urological Association. 95th Annual Meeting. (Platform) Abstract 2667. May, 2000.

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26. Cox C, MacDonald B, Milunsky JM, Toro M. Data from 110 patients with congenital hearing loss. American Academy of Audiology Poster Presentation, Chicago, March, 2000.

27. Milunsky JM, Gropman AL. Bilateral Perisylvian Abnormalities in Two Boys with 47,XYY. Pediat Res.

47:A1427;2000. 28. McCallum TJ, Milunsky JM, Nehra A, Oates RD. Characterizing the clinical and genetic spectrum of bilateral

vasal agenesis in a cohort of 168 men. American Society for Reproductive Medicine Poster Presentation, San Diego, CA, October; 2000.

29. Milunsky JM, Maher TA, Michels VV, Milunsky A. Novel mutations and the emergence of a common mutation in

the SDHD gene causing familial Paraganglioma. Am J Hum Genet 67(4): A2019, October;2000. 30. Huang XL, Wyandt HE, Milunsky JM. Subtelomeric testing for cryptic chromosomal rearrangements in 68

patients with idiopathic mental retardation and dysmorphology. Am J Hum Genet 67(4): A853, October;2000. 31. McCallum TJ, Milunsky A, Milunsky JM, Oates RD: The spectrum of Cystic Fibrosis (CF) gene anomalies

in a large cohort of men with Congenital Absence of the Vas Deferens (CBAVD). American Society of Andrology, Annual Meeting, April, 2000.

32. Milunsky JM, Cheney SM. Kabuki Syndrome in a Haitian Patient (Letter). Am J Med Genet 100:172-174;

2001. 33. Milunsky JM, Lebo RV, Ikuta T, Haverty CE, Milunsky A. Mutation Analysis in Rett Syndrome. Pediat Res 49

(4): A1075; 2001. 34. Brown NE, Grundfast K, Milunsky JM. Genetic Testing in Children with Sensorineural Hearing Impairment.

American Academy Otolaryngology Annual Meeting, Denver, CO. September, 2001. 35. Milunsky JM, Vaughn SP, Broussard S, Rhoads Hall C, Scott A, Blanton SH, Hecht JT. Camurati-Englemann

Syndrome is Genetically Heterogeneous with Some Cases Caused by Mutations in TGFB1. International Meeting on the Growth Plate, Dallas, TX. June, 2001.

36. Smith R, Wyandt HE, Milunsky JM. Phenotypic and cytogenetic analysis of a liveborn infant with prenatally

detected Trisomy 9p and partial Trisomy 8p, resulting from 3:1 malsegregation of a maternal reciprocal translocation. Am J Hum Genet 69(4):A886; 2001.

37. Lebo RV, Wyandt HE, Warburton PE, Li S, Milunsky JM. Unstable centromeric fission products of a balanced

Robertsonian translocation in a markedly discordant twin. Am J Hum Genet 69(4):A799; 2001. 38. Milunsky JM, Maher TA, Metzenberg AB, Kelley RI. Molecular, biochemical, and phenotypic analysis of a male

with X-linked dominant Conradi-Hunermann-Happle syndrome (CDPX2). Am J Hum Genet 69(4):A1829; 2001.

39. Wyandt HE, Phansey-Chauhan S, Milunsky JM. Chromosome analysis of endometrial biopsy from a

female IVF-candidate with 45X/46,XX mosaicism. Am J Hum Genet 69(4):A909; 2001. 40. Wang Z, Milunsky JM, Yamin M, Maher T, Oates R, Milunsky, A. Analysis of 100 cystic fibrosis gene

mutations in 92 patients with congenital bilateral absence of the vas deferens by Mass Spectrometry. Am J Med Genet 69(4):A173; 2001.

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41. Huang XL, Pan A, Wyandt HE, Milunsky JM. Subtle subtelomeric deletion in 8p23.3 in a child with developmental delay and dysmorphism detected by FISH: Paternal origin and molecular confirmation. Am J Hum Genet 69(4):A649; 2001.

42. Milunsky JM. Pheochromocytoma and related phenotypes: MEN, Carney syndrome, Paraganglioma and

Von Hippel-Lindau disease. Cardinal diagnostic sign symposium platform presentation. American College of Medical Genetics Annual Meeting, New Orleans. March, 2002.

43. Pappas JG, Allan K, McMorrow LE, Wyandt HE, Milunsky JM. Phenotypic and Molecular Cytogenetic

Characterization of a Girl With a Terminal Deletion of 7q [del(7)(q36.2)] Am J Hum Genet 71(4):A739;2002. 44. Ito M, Milunsky JM, Milunsky A. Mutation analysis of Rett syndrome patients. Am J Hum Genet

71(4):A1240; 2002. 45. Milunsky JM, Capin DM. Cerebro-Oculo-Facio-Lymphatic syndrome (COFL): A new MR/MCA syndrome

with proposed cardinal diagnostic features. Am J Hum Genet 71(4):A666; 2002. 46. Stevenson VA, Ito M, Milunsky JM. Analysis of Connexin-26 mutation in a population of deaf patients. Am

J Hum Genet 71(4):A2005; 2002. 47. Maher TA, Ito M, Darras BT, Milunsky JM. Implementation of long PCR for the detection of a very large

trinucleotide repeat expansion in a 3-year-old with Juvenile Huntington’s disease. Am J Hum Genet 71(4):A2246; 2002.

48. Oates RD, Brown L, Milunsky JM, Page D. The necessity of proper genetic screening and counseling in

the non-obstructive azoospermic male prior to intervention. American Urological Assoc New England Section Annual Meeting Boston, MA. September, 2002.

49. Ivan CS, Saint-Hillaire M, Milunsky JM. Familial dementia masquerading as Huntington’s Disease. 7th

International Congress of Parkinson’s Disease and Movement Disorders, Miami, FL. November, 2002. 50. Do DV, Goldberg LJ, Kurban AK, Milunsky JM. Palmoplantar Keratoderma with Deafness. New England

Dermatological Society, December, 2002. 51. Toro M, Marrone N, Milunsky JM. Auditory Neuropathy Associated with Chromosome 9q Deletion.

American Academy of Audiology Annual Meeting, San Antonio, TX. April, 2003. 52. Margolin DM, Adam I, Sims KS, Milunsky JM, Milunsky A, Seminara SB, Chan J, Hedley-Whyte ET.

Hypogonadism-ataxia-dementia syndrome with neuronal Intranuclear inclusions (HADNI). Gordon Research Conference on CAG Repeat Disorders, Il Ciocco, Italy. May, 2003.

53. Milunsky JM, Maher TA, Metzenberg AB. Response to correspondence from Happle-"Hypomorphic alleles

within the EBP gene cause a phenotype quite different from Conradi-Hunermann-Happle" Am J Med Genet 122A:280;2003.

54. Wyandt HE, Huang XL, Milunsky JM. Familial duplication, dup(11)(p14p15), in a mother and 9-year-old son

confirmed by high resolution CGH. Am J Hum Genet 73(5) A811;2003. 55. Huang XL, Wyandt HE, Milunsky JM. High resolution CGH in the characterization of a cryptic and non-

cryptic chromosome imbalances. Am J Hum Genet 73(5) A846;2003.

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56. Maher TA, Baldwin CT, Zhao G, Milunsky A, Milunsky JM. SLUG (SNAI2) is not a common cause of Waardenburg syndrome type 2 (WS2). Am J Hum Genet 73(5) A2436;2003.

57. Wang Z, Milunsky JM, Milunsky A. Simultaneous preconception/prenatal carrier screening for multiple

genetic disorders by mass spectrometry (MALDI-TOF). Am J Hum Genet 73(5) A1430;2003. 58. Milunsky JM, Huang XL. Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by

comparative genomic hybridization and BAC-FISH. Am J Hum Genet 73(5) A175;2003. 59. Milunsky JM, Maher TA, Huang XL. Refinement of the Kabuki syndrome critical region. American College of Medical Genetics Annual Meeting, Florida. March, 2004. 60. Milunsky JM, Maher TA, Huang XL. Newly recognized genomic basis of the Kabuki syndrome. Pediatric

Academic Society/Society for Pediatric Research Annual Meeting, San Francisco, California. May, 2004. 61. Adam M, Abdul-Rahman O, Milunsky JM. Refinement of an 8q Duplication by FISH and CGH in a Patient

with Langer-Giedion Syndrome. Am J Hum Genet A1565; 2004. 62. Maher TA, Huang XL, Milunsky JM. Large Deletion in Rett Syndrome Detected by MPLA/CGH Analysis. Am J

Hum Genet A858; 2004 63. Flynn M, Huang XL, Mark HFL, Milunsky JM. Familial 18;21 Translocation Resulting in Trisomy 18p in Two

Siblings. CANNEW Clinical Genetics Presentation, NERGG, Durham, NH. Dec, 2004. 64. Whalen MA, Huang XL, Mark HFL, Milunsky JM. Duplication of 11q Detected by CGH in a 10-Year-Old

Male with Mental Retardation. CANNEW Clinical Genetics Presentation, NERGG, Durham, NH. Dec, 2004. 65. Carey JC, Dent KM, Palumbos JC, Clifford B, Mao R, White K, Eichwald J, Biernath K, Kenneson A, Au S,

Heu PL, Taylor A, Hasegawa L, McWalter K, Vohr B, Abuelo D, Milunsky JM, Zonno K, Jodoin J. Multistate Study of Etiology in Newborn Hearing Screening. CDC Early Hearing Detection and Intervention Conference, Atlanta, GA. March, 2005.

66. Milunsky JM, Zhao G, Maher TA, Milunsky A. Agenesis or hypoplasia of major salivary and lacrimal glands

due to FGF10 gene mutations. American College of Medical Genetics Annual Meeting, Dallas, TX. March, 2005.

67. Milunsky JM, Huang Xin-Li, Mark HFL. Evaluation of Unexplained Mental Retardation Using High-

Resolution Comparative Genomic Hybridization. Pediatric Academic Society/Society for Pediatric Research Annual Meeting, Washington, D.C. May, 2005.

68. Bleyl SB, Dent KM, Palumbos JC, Clifford B, Mao R, White K, Au S, Hew PL, Taylor A, Hasegawa L, Mc

Walter K, Vohr B, Abuelo D, Milunsky JM, Zonno K, Jodoin J, Carey JC. What is the Frequency of Syndromic Hearing Loss in Patients Ascertained Through Universal Newborn Screening? 26th Annual David W. Smith Workshop on Malformations and Morphogenesis, Iowa City, IA. August, 2005.

69. Mark HFL, Wyandt H, Pan A, Milunsky JM. Constitutional Partial 1q Trisomy Mosaicism and Wilms Tumor.

55th Annual Meeting, American Society of Human Genetics, Salt Lake City, UT. A308; Oct. 2005 70. Flynn M, Milunsky JM. Autosomal Dominant Coffin-Siris Syndrome with Premature Thelarche. 55th Annual

Meeting, American Society of Human Genetics, Salt Lake City, UT. A670; Oct. 2005.

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71. Maher TA, Zhao G, Milunsky JM. Mutation in Non-Classic Region of the p63 Gene causes Hay-Wells

Syndrome. 55th Annual Meeting, American Society of Human Genetics, Salt Lake City, UT. A190; Oct. 2005 72. Milunsky JM, Zhao G, Maher TA, Everman DB. LADD syndrome is caused by FGF10 mutations and is

allelic to autosomal dominant Aplasia/Hypoplasia of Lacrimal and Salivary Glands. 55th Annual Meeting, American Society of Human Genetics, Salt Lake City, UT. A191; Oct. 2005

73. Demers L, Abbott J, Mark HF, Milunsky JM. Monozygotic Twins Discordant for Trisomy 21. CANNEW

Clinical Genetics Presentation, NERGG, Durham, NH. Dec, 2005. 74. Whalen MA, Mark HFL, Demers LD, Milunsky JM. Rare Interstitial Deletion of Chromosome 1P in a

Newborn with IUGR and Multiple Congenital Anomalies. CANNEW Clinical Genetics Presentation, NERGG, Durham, NH. Dec, 2005.

75. Carey JC, Dent KM, Palumbos JC, Clifford B, Rong M, White K, Smith R, Eichwald J, Biernath K, Au S, Heu

PL, Taylor A, Hasegawa L, McWalter K, Abuelo D, Milunsky JM, Zonno K, Jodoin J, Vohr B. Multistate Study of Etiology In Newborn Hearing Screening. National Early Hearing Detection and Intervention (EDHI) Conference Washington D.C. Feb., 2006.

76. Demers LA, Milunsky JM. Microgastria-Upper Limb Anomaly Syndrome in an 18 Month Old Female. American

College of Medical Genetics Annual Meeting San Diego, CA. Mar., 2006. 77. Conway RL, Butler MG, Crandall B, Dorostkar PC, Hoyme HE, Milunsky JM, Shieh J, Zackai E, Zinn A,

Graham JM. Macrocephaly-Cutis Marmorata Telangiectatica Congenita: A Review of 14 Patients with Attention to Clinical Features and Management. European Society of Human Genetics Annual Meeting, Amsterdam, May, 2006.

78. Ito M, Milunsky A, Milunsky JM. Mitochondrial Resequencing Microarray Analyses of First 100 Patients

with Suspected OXPHOS Disorders. The 10th International Congress of Inborn Errors of Metabolism Annual Meeting, Chiba, Japan, September, 2006.

79. Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB. FGF10 Mutations in LADD Syndrome. 27th

Annual David W. Smith Workshop on Malformations and Morphogenesis. Lake Arrowhead, CA. September, 2006.

80. Conway RL, Pressman BD, Danielpour M, Zackai EH, Close L, Clericuzio C, Butler MG, Milunsky JM,

Hoyme HE, Shieh J, Moeschler JB, Graham JM. Neuroimaging Abnormalities in Macrocephaly-Cutis marmorata Telangiectatica Congenita. 27th Annual David W. Smith Workshop on Malformations and Morphogenesis. Lake Arrowhead, CA. September, 2006.

81. Huang XL, Jamal S, Mark HFL, Maher TA, Milunsky JM. Implications for Clinical Management in

Incomplete WAGR(O) Syndrome with an Atypical 11p13 Deletion. 56th Annual Meeting, American Society of Human Genetics, New Orleans, LA. A729; Oct. 2006.

82. Jamal S, Huang XL, Mark HFL, Milunsky JM. Counseling Implications in Familial 3q29 Microdeletion

Syndrome. 56th Annual Meeting, American Society of Human Genetics, New Orleans, LA. A1139; Oct. 2006.

83. Hay B, Minehart Miron P, Crowley-Larson P, Ito M, Ramakrishnan S, Huang XL, Milunsky JM. SNP

Microarray Analysis in an Apparently Balanced Complex Chromosome Rearrangement. 56th Annual

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Meeting, American Society of Human Genetics, New Orleans, LA. A851; Oct. 2006. 84. Flynn M, Whalen MA, Milunsky JM. hMSH2 Mutation Identified in a Family with Muir-Torre Syndrome: Genetic

Counseling Perspective. 56th Annual Meeting, American Society of Human Genetics, New Orleans, LA. A386; Oct. 2006.

85. Maher TA, Milunsky A, Ito M, Yang J, Milunsky JM. The Benefit of MLPA in TSC 1 and 2 Analysis. 56th Annual

Meeting, American Society of Human Genetics, New Orleans, LA. A719; Oct. 2006. 86. Milunsky JM, Maher TA, Milunsky A. The Clinical Utility of MLPA in Waardenburg Syndrome. 56th Annual

Meeting, American Society of Human Genetics, New Orleans, LA. A676; Oct. 2006. 87. Dent KM, Palumbos JC, Clifford B, Harwood R, Jensen N, Smith R, Biernath K, Au S, Heu PL, Hasegawa L,

McWalter K, Abuelo D, Zonno K, Jodoin-Krauzyk J, Milunsky JM, Benson C, Vohr B, Eichwald J, White K, Carey JC. Genetic Counseling for Congenital Hearing Loss: Lessons from a Multistate Study of Etiology in Newborn Hearing Screening. 25th Annual Education Conference, Nashville, TN. November, 2006.

88. Whalen MA, Huang XL, Milunsky JM. 46, XX Sex-Reversed Male: A Prenatal Diagnosis Following Routine

Amniocentesis. CANNEW Clinical Genetics Presentation, NERGG, Durham, NH. Nov., 2006. 89. Flynn M, Milunsky JM. Retropharyngeal Cyst associated with Klippel-Feil syndrome. CANNEW Clinical

Genetics Presentation, NERGG, Durham, NH. Nov., 2006 90. Jamal S, Ito M, Maher TA, Milunsky JM. A Novel De Novo CDKL5/STK9 Mutation Associated with Atypical

Rett syndrome. CANNEW Clinical Genetics Presentation, NERGG, Durham, NH. Nov., 2006. 91. Douglas LM, Rosman NP, Maher TA, Zhao G, Milunsky JM. Is Benign Paroxysmal Torticollis Related to

Mutations in the CACNA1A Gene? American Academy of Neurology Meeting, Boston, MA. April 2007. 92. Milunsky JM, Ito M, Maher TA, Milunsky A. Novel Mutations in Tuberous Sclerosis 1 and 2 Genetic

Analysis: Genetic Counseling Implications. American College of Medical Genetics Annual Meeting, Nashville, TN, March, 2007.

93. Flynn M, Milunsky, JM. Maternally-Inherited Proximal 15q Duplication not Associated with Autism. American

College of Medical Genetics Annual Meeting, Nashville, TN, March, 2007. 94. Diego I-L, Gray JA, Berry-Kravis EM, Farooqi S, Milunsky JM, Rand CM, Weese-Mayer D, Sperling MA.

Endocrine manifestations of the ROHHAD syndrome. Pediatric Academic Society/Society for Pediatric Research Annual Meeting, Toronto, Canada, May, 2007.

95. Milunsky JM, Zhao G, Colby R, Everman DB, Inis J, Netzloff M, Maher TA. Molecular Diagnosis and

Heterogeneity in LADD syndrome. Pediatric Academic Society/Society for Pediatric Research Annual Meeting, Toronto, Canada, May, 2007.

96. Snape K, Milunsky JM, Izatt L. A case of familial duodenal atresia; do mutations within the Fgf10 signaling

pathway underlie its pathogenesis? British Human Genetics Conference, British Society for Human Genetics. University of York, UK. A63. September, 2007.

97. Basran RK, Maher TA, Ito M, Milunsky JM. Confirmation that a three base pair deletion in the MITF gene

results in Tietz Syndrome. 57th Annual Meeting, American Society of Human Genetics. San Diego, CA; A782. October, 2007.

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98. Milunsky JM, Ito M, Maher TA, Milunsky A. Benefit of Whole-Genome 500K SNP Microarray in Clinical

Practice. 57th Annual Meeting, American Society of Human Genetics. San Diego, CA; A1597. October, 2007. 99. Maher TA, Zhao G, Milunsky JM. Pur Alpha Gene Mutations are not a Major Cause of Unexplained

Spinocerebellar Ataxia. 57th Annual Meeting, American Society of Human Genetics. San Diego, CA; A871. October, 2007.

100. Conway R, Pressman BD, Dobyns WB, Butler MG, Zackai E, Saitta SC, Campbell L, Clericuzio CL,

Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandal B, Lauzon JL, Viskochil D, Harding B, Graham JM. Neuroimaging findings in macrocephaly-cutis marmorata telagiectatica congenita. 57th Annual Meeting, American Society of Human Genetics. San Diego, CA; A558. October, 2007.

101. Newton S, Ito M, Huang XL, Milunsky JM. Whole genome 500K SNP microarray delineates

duplication/deletion of 8p in a child with MR/MCA. 57th Annual Meeting, American Society of Human Genetics. San Diego, CA; A1618. October, 2007.

102. Ito M, Milunsky JM, Maher TA, Milunsky A. Whole genome 500K SNP microarray for evaluation of mental

retardation, developmental delay, autistic spectrum disorder and congenital malformations. 57th Annual Meeting, American Society of Human Genetics. San Diego, CA. A1613. October, 2007.

103. Flynn M, Milunsky JM. Multiple congenital anomalies in an infant with probable oral-facial-digital syndrome.

CANNEW Clinical Genetics Presentation, NERGG. Durham, NH. November, 2007. 104. Krepkovich, K, Milunsky JM. Prenatal diagnosis of the limb-body wall complex. CANNEW Clinical Genetics

Presentation, NERGG. Durham, NH. November, 2007. 105. Jamal S, Ito M. Milunsky JM. A de novo 1.35 Mb contiguous gene microdeletion at chromosome 1q31.1.

CANNEW Clinical Genetics Presentation, NERGG. Durham, NH. November, 2007. 106. Milunsky JM, Maher T, Zhao G, Huang X, Wang Z, Zou Y. A Reexamination of the chromosome 8p22-

8p23.1 region in Kabuki syndrome (Letter). Clin Genet 73: 502-03, 2008. 107. Milunsky JM, Maher T, Zhao G, Roberts A, Stalker H, Zori R, Clemens M, Smith R, Mulliken J, Lin A. AP2α

mutations result in Branchio-Oculo-Facial syndrome (BOFS). American College of Medical Genetics Annual Meeting. Phoenix, AZ. March 2008.

108. Flynn M, Ito M, Milunsky JM. 16 Mb deletion at 4q34.1-qter secondary to familial derivative chromosome

associated with GDD and ASD. American College of Medical Genetics Annual Meeting. Phoenix, AZ. March 2008.

109. Jamal S, Ito M, Milunsky JM. A newly identified microdeletion syndrome at chromosome 1q21.1? American

College of Medical Genetics Annual Meeting. Phoenix, AZ. March 2008. 110. Zou Y, Huang X, Ito M, Newton S, Milunsky JM. Short stature and minor anomalies in a girl having a

maternal inherited derivative chromosome 20 with an interchromosomal insertion of the 9p13.2-9p21.3 segment resulting in 16.6-Mb interstitial 9p duplication: Further delineation of the critical region for the 9p-duplication syndrome. 40th American Cytogenetics Conference (ACC). Monterey, CA. April 2008

111. Lin A, Mulliken J, Clemens M, Mclean S, Roberts A, Smith R, Milunsky JM. Branchio-Oculo-Facial

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Syndrome Update: Diagnostic Criteria, Oral Clefts, Natural History. 29th Annual David W. Smith Workshop on Malformations and Morphogenesis. Mont-Tremblant, Quebec. August, 2008.

112. Chitayat D, Reardon W, Klatt R, Milunsky JM. Branchio-Oculo-Facial syndrome caused by a mutation in the

TFAP2A gene. 29th Annual David W. Smith Workshop on Malformations and Morphogenesis. Mont-Tremblant, Quebec. August, 2008.

113. Huang XL, Zou YS, Maher TA, Newton S, Milunsky JM. A New de novo Balanced Translocation Breakpoint

Truncating the Autism Susceptibility Candidate 2 (AUTS2) Gene in an Autistic Patient. 58th Annual Meeting, American Society of Human Genetics. Philadelphia, PA; A494. November, 2008.

114. Batista OI, Maher TA, Milunsky A, Milunsky JM. Identification of two novel sequence variants in two X-

linked mental retardation genes: ATRX and RSK2. 58th Annual Meeting, American Society of Human Genetics. Philadelphia, PA; A1499. November, 2008.

115. Newton S, Zhao G, Tager-Flusberg H, Milunsky JM. Autism and germline mosaicism for a NLGN4

alteration: Genetic counseling implications. 58th Annual Meeting, American Society of Human Genetics. Philadelphia, PA; A316. November, 2008.

116. Maher TA, Zhou G, Milunsky JM. Expanding the Clinical and Molecular Spectrum of Timothy Syndrome.

58th Annual Meeting, American Society of Human Genetics. Philadelphia, PA; A54, November, 2008. 117. Sheridan MB, Haldeman-Englert C, Jalali R, Milunsky JM, Zou YS, Klaes R, Hacker A, Brown J, Tomkins

D, Shaikh T, Zackai EH, Emanuel BS. A New Recurrent Translocation with 3:1 Meiotic Disjunction: The Palindrome Mediated t(8;22)(q24.13;q11.21). 58th Annual Meeting, American Society of Human Genetics. Philadelphia, PA; A1062. November, 2008.

118. Milunsky JM, Maher TA, Zhao G, Chitayat D, Cunningham M, Meschino W, Megarbane A, Stalker H, Zori

R, Lin A. Clinical and Molecular Insights into Branchio-Oculo-Facial Syndrome (BOFS). 58th Annual Meeting, American Society of Human Genetics. Philadelphia, PA; A189. November, 2008.

119. Klatt R, Chitayat D, Reardon W, Milunsky JM. Branchio-Oculo-Facial syndrome caused by a mutation in the

TFAP2A gene. 58th Annual Meeting, American Society of Human Genetics. Philadelphia, PA; A495 November, 2008.

120. Newton S, Milunsky JM. Molecular analysis provides diagnostic resolution in a family with

Neurofibromatosis-Noonan syndrome. CANNEW Clinical Genetics Presentation, NERGG. Portsmouth, NH. December, 2008.

121. Jamal S, Milunsky JM. A 56 year old male with Ruvalcaba syndrome. CANNEW Clinical Genetics

Presentation, NERGG. Portsmouth, NH. December, 2008. 122. Milunsky, A, Ito M, Maher TA, Flynn M, Milunsky JM. Prenatal Molecular Diagnosis of Tuberous Sclerosis

Complex (TSC). American College of Medical Genetics Annual Meeting. Tampa, FL. March 2009. 123. Krepkovich KE, Haag, M, Milunsky JM. De novo monosomy 9p24.3-pter characterized by whole genome

microarray analysis in a fetus with Omphalocele, cleft palate, and two vessel cord. American College of Medical Genetics Annual Meeting. Tampa, FL. March 2009.

124. Newton S, Milunsky JM. Isolated skeletal findings in Marfan syndrome and the R2726W FBN1 mutation.

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National Society of Genetic Counselors Annual Meeting. Atlanta, GA. Submitted. 125. Jamal S, Wang Z, Milunsky JM. Cardio-Facio-Cutaneous Syndrome: Clinical and Molecular Diagnosis in

the NICU. American Society of Human Genetics. Annual Meeting. Honolulu, HI. October, 2009. 126. Maher TA, Milunsky JM, Anguiano A, Owen R, Strom CM, Milunsky A. Blinded Analysis of Cultured

Amniotic Fluid Samples: Conventional Cytogenetics versus Affymetrix 6.0 Microarray vs Array Comparative Genomic Hybridization (aCGH). American Society of Human Genetics. Annual Meeting. Honolulu, HI. October, 2009.

127. Shen Y, Dies K, Holm I, Picker J, Milunsky JM, Wu B, Miller D, Boston Autism Consortium Clinical

Genetics/CHB DNA Diagnostics Collaboration. Clinical Genetic Testing for Patients with Autism Spectrum Disorders. American Society of Human Genetics. Annual Meeting. Honolulu, HI. October, 2009.

128. Basran RK, Maher TA, Wu B, Wang Z, Milunsky JM. Expanding the spectrum of mutations associated with

the PTEN promoter. American Society of Human Genetics. Annual Meeting. Honolulu, HI. October, 2009. 129. Jamal S, Xin-Li H, Zou Y, Leon E, Basran R, Milunsky JM. Multiple Congenital Anomalies and

Dysmorphism in a Patient with a Balanced de novo Pericentric inv(5). CANNEW Clinical Genetics Presentation, NERGG. Portsmouth, NH. December, 2009.

130. Flynn M, Wang Z, Maher T, Basran R, Milunsky JM. Lynch Syndrome Due to TACSTD1/EPCAM Deletions.

CANNEW Clinical Genetics Presentation, NERGG. Portsmouth, NH. December, 2009. 131. Leon E, Zou YS, Basran RK, Milunsky JM. Distal partial monosomy 21 in an infant with apneic episodes

and multiple congenital anomalies detected by SNP microarray. American College of Medical Genetics. Annual Meeting. Albuquerque, NM. March, 2010.

132. Milunsky JM, Maher T, Zhao G, Wang Z, Lin A, BOFS International Consortium. Genotype-phenotype

analysis of Branchio-Oculo-Facial syndrome. American College of Medical Genetics. Annual Meeting. Albuquerque, NM. March, 2010.

133. Basran R, Wang Z, Maher T, Milunsky JM. Mutation Analysis of MID1 in X-Linked Opitz G/BBB Syndrome.

American College of Medical Genetics. Annual Meeting. Albuquerque, NM. March, 2010. 134. Newton S, Milunsky JM, Basran R. When two is better than one: The diagnostic utility of testing multiple

tissue types to make a molecular diagnosis. American College of Medical Genetics. Annual Meeting. Albuquerque, NM. March, 2010.

135. Carter M, Blaser S, Meschino W, Papsin B, Reardon W, Klatt R, Babul-Hirji R, Milunsky JM, Chitayat D.

Branchio-Oculo-Facial Syndrome: Inner and middle ear malformations. American Society of Human Genetics. Annual Meeting. Washington, DC. November, 2010.

136. Maher TA, Zhou G, Milunsky JM. Molecular Analysis of SEC23IP as a Potential Candidate Waardenburg

Syndrome Gene. American Society of Human Genetics. Annual Meeting. Washington, DC. November, 2010. 137. Wang Z, Basran RK, Maher M, Flynn M, Jamal SM, Milunsky JM. Clinical Molecular Testing for

Neurofibromatosis type 1 (NF1)/ Legius Syndrome (SPRED1): 88 Novel Mutations in NF1/ SPRED1. American Society of Human Genetics. Annual Meeting. Washington, DC. November, 2010.

138. Jamal SM, Basran RK, Newton S, Wang Z, Milunsky JM. Novel PCDH19 mutations causing EFMR.

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American Society of Human Genetics. Annual Meeting. Washington, DC. November, 2010. 139. Krepkovich KE, Milunsky A, Wang Z, Basran RK, Milunsky JM. The molecular spectrum and approach to

the diagnosis of Angelman and Angelman-Like Syndromes. CANNEW Clinical Genetics Presentation, NERGG. Portsmouth, NH. December 2010.

140. Newton S, Maher TA, Wang Z, Basran RK, Milunsky JM. Custom Sequencing Yields a Molecular Diagnosis

For Salla Disease Allowing Informative Genetic Counseling. CANNEW Clinical Genetics Presentation, NERGG. Portsmouth, NH. December 2010.

141. Campion MA, Krepkovich K, Milunsky JM. Cystic Hygromas: What features are most predictive of outcome?

CANNEW Clinical Genetics Presentation, NERGG. Portsmouth, NH. December 2010. 142. Nash K, Jeng L, Wang Z, Milunsky JM, Sullivan J. Ictal Hypoxemia in 3 Cases of PCDH19-Related

Epilepsy. American Epilespy Society Meeting. Annual Meeting. San Antonio, TX. December 2010. 143. Flore LA, Leon E, Maher TA, Milunsky JM. RASA1 Mutation Analysis May Guide Management in Families

with CM-AVM. American College of Medical Genetics. Annual Meeting. Vancouver, CAN. March, 2011. 144. Milunsky JM, Zhao G, Basran RK, Baldwin CT, Maher TA. Comprehensive MLL2 analysis in 110 cases of

Kabuki syndrome reveals likely genetic heterogeneity. American College of Medical Genetics. Annual Meeting. Vancouver, CAN. March, 2011.

145. Giovanni MA, Milunsky JM, Wang Z, Basran RK, Murray MF. Laboratory and clinical follow-up for two

unrelated patients with the same FBN1 mutation. American College of Medical Genetics. Annual Meeting. Vancouver, CAN. March, 2011.

146. Flynn M, Milunsky JM. Early onset breast cancer following a negative result for familial BRCA1 Mutation-A patient’s unexpected Journey. IMPAHC Conference. Annual Meeting. Amsterdam, The Netherlands. April, 2011.

OTHER PUBLICATIONS: 1. Milunsky JM. Homage to Homo Sapiens (Poem). Boston University Medicine 1:2; 1991. 2. Milunsky JM. Down Syndrome. In: Pocket Medicine/ Pediatrics. Ed. Bauchner H, Vinci B., Kim M. 2003. 3. Milunsky JM. Fragile X Syndrome. In: Pocket Medicine/ Pediatrics. Ed. Bauchner H, Vinci B., Kim M. 2003. 4. Milunsky JM. Turner Syndrome. In: Pocket Medicine/ Pediatrics. Ed. Bauchner H, Vinci B., Kim M. 2003. 5. Milunsky JM. Genetic Evaluation of Dysmorphic Child. In: Pocket Medicine/ Pediatrics. Ed. Bauchner H, Vinci B.,

Kim M. 2003. 6. Flynn MA, Milunsky JM. Genetic Counseling. In: Leadership Perspectives in Developmental Disability. Vol. 3(1), Spring, 2003. 7. Milunsky JM. LADD Syndrome. In: National Organization for Rare Diseases (NORD). 2008.

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8. Milunsky JM. Waardenburg Syndrome. In: National Organization for Rare Diseases (NORD). 2009. 9. Milunsky JM. Down Syndrome. In: Pocket Medicine/ Pediatrics. Ed. Vinci B., Moses J. 2009. 10. Milunsky JM. Fragile X Syndrome. In: Pocket Medicine/ Pediatrics. Ed. Vinci B., Moses J. 2009. 11. Milunsky JM. Turner Syndrome. In: Pocket Medicine/ Pediatrics. Ed. Vinci B., Moses J. 2009. 12. Milunsky JM. Genetic Evaluation of Dysmorphic Child. In: Pocket Medicine/ Pediatrics. Ed. Vinci B., Moses J.

2009. INVITED LECTURES: Many In-State and Out-of-State lectures over 15 years. Titles, locations and dates can be provided if required. Last updated 11/15/11

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