Department of Pediatrics Annual Report – 2020

Clinical Genetics

The diagnosis and treatment of rare diseases is our specialty

The Division of Clinical Genetics provides excellent, comprehensive care to newborns, children, adults, and pregnant women with known genetic or suspected genetic disorders. Our services include:

  • Clinical evaluation and risk assessment, genetic counseling, and comprehensive genomic testing
  • Second-opinion service reassessing previously performed genomic tests to evaluate patients with undiagnosed disorders
  • Ongoing care and care coordination for patients with genetic conditions
  • Identification of research studies through which patients may gain a better understanding of their conditions or access new treatments
  • Access to reproductive options to enable patients who are planning their families to have healthy children

Division members provide genetic expertise to and collaborate with several multidisciplinary programs at Columbia University Irving Medical Center (CUIMC) including:

  • Craniofacial Program
  • Vascular Anomalies Program
  • Centers of excellence for neurofibromatosis, von Hippel-Lindau disease, and Marfan syndrome
  • Cardiology programs for patients with pediatric cardiomyopathies, pulmonary hypertension, congenital heart disease, and other cardiac conditions
  • Cancer Genetics Counseling Program for individuals with a family or personal history of cancer
  • Precision in Pediatric Sequencing (PIPseq) program for children with cancer

Within our division, the DISCOVER and TREATMENT programs provide comprehensive diagnostic services and cutting-edge treatment for infants and children with rare and undiagnosed diseases. The DISCOVER program (Diagnosis Initiative: Seeking Care and Opportunities with Vision for Exploration and Research) strives to make a diagnosis of rare diseases and complex conditions more quickly, while the newly established TREATMENT program works to determine the most effective therapy for those with genetic diagnoses. And through the Inherited Metabolic Disease Program, specialists focus on genetic metabolic diseases, many of which are detected through state-mandated newborn screening programs.


The division collaborates on a number of ongoing and diverse precision medicine initiatives at CUIMC across the range of genetic conditions. Our research portfolio extends from basic genetic discoveries and understanding genetic mechanisms to implementation science and clinical trials of new treatments including gene therapy. We work collaboratively with many groups around the U.S. and around the world to expand newborn screening for genetic disorders, facilitate genetic and genomic testing on scale, identify novel genes for diseases, describe the natural history of rare genetic conditions, and develop new treatments and supports for patients with rare genetic diseases.


Fellowship Program

Through our two-year program in medical genetics, fellows receive training in pediatric genetics, biochemical genetics, cytogenetics, molecular genetics, and cancer genetics and upon graduation are capable of diagnosing and caring for patients with a wide range of genetic problems.

Student, Resident, and Fellow Rotations in Clinical Genetics

Rotations in clinical genetics are available to genetic counseling students, medical students, and pediatric residents as well as trainees in other departments at CUIMC.

New Appointments

  • Julia Wynn, MS, CGC, Associate Professor of Genetic Counseling
  • Priyanka Ahimaz, MS, CGC, Assistant Professor of Genetic Counseling
  • Carli Andrews, MS, CGC, Lecturer in Genetic Counseling
  • Elana Spitz, MS, CGC, Lecturer in Genetic Counseling
  • Meredith Ross, MS, CGC, Lecturer in Genetic Counseling
  • Scott Robinson, MS, CGC, Lecturer in Genetic Counseling
  • Rebecca Hernan, MS, CGC, Lecturer in Genetic Counseling
  • Edwin Guzman, MS, CGC, Lecturer in Genetic Counseling
  • Emily Griffin, MS, CGC, Lecturer in Genetic Counseling
  • Alexa Geltzeiler, MSc, CGC, Lecturer in Genetic Counseling
  • Tamar Forman, MS, CGC, Lecturer in Genetic Counseling
  • Michele Disco, MS, CGC, Lecturer in Genetic Counseling, Departments of Pathology & Cell Biology and Pediatrics
  • Katia Dergham, MS, CGC, Lecturer in Genetic Counseling
  • Ilana Chilton, MS, CGC, Lecturer in Genetic Counseling
  • Sara Berger, MS, CGC, Lecturer in Genetic Counseling

Honors and Awards

Wendy Chung, MD, PhD

  • Elected to the National Academy of Medicine

Elaine Pereira, MD

  • Elected Treasurer, AAP Chapter 3 executive board, 2019

Alejandro Iglesias, MD

  • VP&S Academy of Excellence (ACE) Inductee, 2019

Selected Publications

Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler S, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N,Lapunzina P, Schneider MC, Mendelsohn N, Singleton A, Ramey VL, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen K, Palomares M, Bazak L,Lee A, Bircher A, Basel-Vanagaite L, Hafstrøm M, Houge G, C4RCD Research Group, DDD study, David B. Goldstein, Kwame Anyane-Yeboa. Refining the phenotype associated with GNB1 mutations: clinical data on 18 newly identified patients and review of the literature. Am J Med Genet A. 2018 Sep 8. doi: 10.1002/ajmg.a.40472. [Epub ahead of print]

Kittler NW, Antonov NK, Scripps TB, Anyane-Yeboa K, Garzon MC, Lauren CT. Phylloid terminal hair nevus: A unique clinical entity. Pediatr Dermatol. 2018 Aug 28. doi: 10.1111/pde.13616. [Epub ahead of print]

Kruszka P, Berger SI, Weiss K, Everson JL, Martinez AF, Hong S, Anyane-Yeboa K, Lipinski RJ, Muenke M. CCR4-NOT transcription complex, subunit 1 (CNOT1) variant associated with holoprosencephaly. Am J Hum Genet. 2019 May 2; 104: 1-4.

Okur V, Cho MT, van Wijk R, van Oirschot V, Picker J, Coury S, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Anyane-Yeboa A, Chung WK. De novo mutations in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 Feb 18.

Wise-Oringer BK, Zanazzi GJ, Gordon R, Wardlaw SL, William C, Anyane-Yeboa k, Chung WK, Kohn B, Wisoff, David R, Oberfield SE: Familial X-linked acrogigantism: Postnatal outcomes and tumor pathology in a prenatally diagnosed infant and his affected mother. J Clin Endocrinol Metab. 2019 Oct 1; 104(10): 4667-4675. doi: 10.1210/jc.2019-00817. PMID: 31166600.

Hernan R, Cho MT, Wilson AL, Ahimaz P, Au C, Berger SM, Guzman E, Primiano M, Shaw JE, Ross M, Tabanfar L, Chilton I, Griffin E, Ratner C, Anyane-Yeboa K, Iglesias A, Pisani L, Roohi J, Duong J, Martinez J, Appelbaum P, Klitzman R, Ottman R, Chung WK, Wynn J. Impact of patient education videos on genetic counseling outcomes after exome sequencing. Patient Educ Couns. 2019 Aug 24. pii: S0738-3991(19)30358-1. doi: 10.1016/j.pec.2019.08.018. [Epub ahead of print] PMID: 31521424.

Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 Feb; 179(2): 150-158. doi: 10.1002/ajmg.a.61033. Epub 2019 Jan 6. PMID: 30614194.

Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S; DDD Study, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE. (2019). Am J Hum Genet. 2019 Aug 1; 105(2): 403-412


New PBS Documentary, “The Gene,” Features CUIMC Faculty

"The Gene," a new documentary by Ken Burns based on the eponymous book by Columbia oncologist Siddhartha Mukherjee, MD, DPhil, airs April 7 and 14 on PBS and prominently features four other faculty members at Columbia University Vagelos College of Physicians and Surgeons. 


Wendy Chung Named Chief of Clinical Genetics Division in Pediatrics

Wendy Chung, MD, PhD, the Kennedy Family Professor of Pediatrics at Columbia, has been named chief of the Division of Clinical Genetics in the Department of Pediatrics, effective Jan. 1, 2020. She succeeds Kwame Anyane-Yeboa, MD, who will continue in his role as professor of pediatrics in clinical genetics.


Five Elected to the National Academy of Medicine

The National Academy of Medicine(link is external and opens in a new window) today announced that five members of the CUIMC faculty—Sonia Yris Angell, Andrea Baccarelli, Wendy Chung, Kam W. Leong, and Patricia Stone—have been elected to the academy.