Publications




Mutations in BMPR2 are not present in patients with pulmonary hypertension associated with congenital diaphragmatic hernia.
J Pediatr Surg 2017 Nov 26;52(11):1747-1750. Epub 2017 Jan 26.
Department of Pediatrics, Division of Molecular Genetics, Columbia University Medical Center, 1150 St. Nicholas Avenue, Room 620, New York, NY 10032, USA.


High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Am J Hum Genet 2017 Nov;101(5):664-685
Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:


Clinical and genetic characterization of AP4B1-associated SPG47.
Am J Med Genet A 2017 Nov 28. Epub 2017 Nov 28.
Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, and Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.

ACSS2 gene variant associated with cleft lip and palate in two independent Hispanic populations.
Laryngoscope 2017 Oct 23;127(10):E336-E339. Epub 2017 May 23.
Department of Otolaryngology-Head and Neck Surgery, Columbia University Medical Center, New York, New York, U.S.A.

PVDOMICS: A Multi-Center Study to Improve Understanding of Pulmonary Vascular Disease Through Phenomics.
Circ Res 2017 Oct;121(10):1136-1139
From the Vanderbilt University, Nashville, TN (A.R.H., J.H.N.); Cleveland Clinic, OH (G.J.B., M.A.A., J.B., S.A.A.C., S.C.E., B.H., J.K.L., M.A.O., W.H.W.T.); Wayne State University/John D. Dingell VAMC, Detroil, MI (A.A.); Columbia University, New York, NY (E.B.R., W.K.C.); Mayo Clinic, Rochester, MN (B.A.B., R.P.F.); Pulmonary Hypertension Association, Silver Spring, MD (M.P.G.); New York University Medical Center (G.G.); Johns Hopkins Hospital, Baltimore, MD (P.M.H., S.C.M.); Tufts Medical Center, Boston, MA (N.S.H.); Weill Cornell Medicine, New York, NY (E.M.H.); Brigham and Women's Hospital, Boston, MA (B.A.M., D.M.S., A.B.W., J.A.L.); The University of Arizona, Tucson (F.P.R., J.X.-J.Y.); and National Heart, Lung and Blood Institute, Bethesda, MD (L.X.).


Pediatric Cardiomyopathies.
Circ Res 2017 Sep;121(7):855-873
From the Department of Pediatrics, Columbia University Medical Center, New York, NY (T.M.L., W.K.C., L.J.A.); Department of Pediatrics, Albert Einstein College of Medicine, The Children's Hospital at Montefiore, Bronx, NY (D.T.H., J.M.L.); Department of Pediatrics, Stollery Children's Hospital, University of Alberta, Edmonton, Canada (P.K.); Department of Pediatrics, The Heart Institute, Le Bonheur Children's Hospital, Memphis, TN (J.A.T.); Indiana University School of Medicine, Indianapolis (S.M.W.); Department of Cardiology, Boston Children's Hospital, MA (S.D.C.); Department of Pediatrics, Cincinnati Children's Hospital Medical Center, OH (J.L.J., E.M.M.); Department of Pediatrics, Children's Hospital of Philadelphia, PA (J.W.R.); Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (C.D.C.); Department of Pediatrics, Primary Children's Hospital, Salt Lake City, UT (A.K.L.); Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital, Chicago, IL (P.T.T.); and Department of Pediatrics, Wayne State University School of Medicine and Children's Hospital of Michigan, Detroit (J.D.C., H.R., A.H., S.E.L.).




Developmental trajectories for young children with 16p11.2 copy number variation.
Am J Med Genet B Neuropsychiatr Genet 2017 Jun 27;174(4):367-380. Epub 2017 Mar 27.
Department of Pediatrics and Medicine, Columbia University, New York, New York.


Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.
Nat Genet 2017 May 27;49(5):680-691. Epub 2017 Mar 27.
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.



Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease.
Cell Rep 2017 Feb;18(6):1484-1498
Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA. Electronic address:

Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group.
Circ Heart Fail 2017 Feb;10(2)
From the Department of Pediatrics, Miller School of Medicine, University of Miami, FL (P.R., S.E.L.); Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit (J.D.W., S.E.L.); Sanofi Genzyme Corporation, Boston, MA (G.F.C.); The Heart Institute, Le Bonheur Children's Hospital, Memphis, TN (J.A.T.); The Heart Institute, Cincinnati Children's Hospital Medical Center, OH (J.L.J.); Department of Cardiology, Boston Children's Hospital, MA (L.A.S., M.L., S.D.C.); Department of Pediatrics, Vanderbilt University School of Medicine, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN (S.A.W.); Department of Pediatrics, Washington University School of Medicine, St. Louis, MO (C.E.C.); Indiana University School of Medicine, Indianapolis (S.M.W.); Department of Pediatrics, Albert Einstein College of Medicine, The Children's Hospital at Montefiore, Bronx, NY (D.T.H.); Department of Pediatrics, Columbia University Medical Center, New York, NY (W.K.C.); and University of North Carolina at Chapel Hill (C.C.).





De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001172
Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
Am J Hum Genet 2016 Sep 18;99(3):728-734. Epub 2016 Aug 18.
Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address:




Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications.
Hum Brain Mapp 2016 Aug 24;37(8):2833-48. Epub 2016 May 24.
Department of Radiology and Biomedical Imaging, University of California, San Francisco, 185 Berry Street, San Francisco, California, 94107.








Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.
J Clin Oncol 2016 Jun 25;34(18):2172-81. Epub 2016 Apr 25.
Sarah M. Nielsen and Lindsay Rhodes, The University of Chicago, Chicago, IL; Ignacio Blanco, Hospital Universitari Germans Trias i Pujol, UAB - Universitat Autònoma de Barcelona, Barcelona, Spain; Wendy K. Chung, Columbia University, New York, NY; Charis Eng, Cleveland Clinic; Charis Eng, Case Western Reserve University School of Medicine, Cleveland, OH; Eamonn R. Maher, University of Cambridge and Cambridge NIHR Biomedical Research Centre, Cambridge, United Kingdom; Stéphane Richard, Réseau National pour Cancers Rares de l'Adulte PREDIR, INCa/AP-HP, Hôpital Bicêtre, Le Kremlin Bicêtre; Stéphane Richard, INSERM U1186, Gustave Roussy Cancer Campus, Villejuif, France; Rachel H. Giles, University Medical Center Utrecht, Regenerative Medicine Center Utrecht, Utrecht; and Rachel H. Giles, Dutch VHL Patient Organization, Gouda, the Netherlands.


Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.
Am J Hum Genet 2016 Jun;98(6):1235-1242
Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA. Electronic address:

Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.
Circ Arrhythm Electrophysiol 2016 Jun;9(6)
From the Departments of Pharmacology (K.B.), Medicine (J.A.M., A.N.K., C.M.C., M.B.S., D.M.R.), Biomedical Informatics (D.M.R.), Vanderbilt University, Nashville, TN; Departments of Pediatrics (W.K.C.), Medicine (W.K.C.), Columbia University Medical Center, New York, NY; and GeneDx, Gaithersburg, MD (D.M., D.K., E.V.).


The LEGACY Girls Study: Growth and Development in the Context of Breast Cancer Family History.
Epidemiology 2016 May;27(3):438-48
From the aCancer Prevention Institute of California, Fremont, CA; bDepartment of Health Research & Policy (Epidemiology), and Stanford Cancer Institute, Stanford School of Medicine, Stanford, CA; cDepartment of Epidemiology, Columbia University Mailman School of Public Health, New York, NY; dHerbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY; eDepartments of Medicine and Medical Ethics & Health Policy, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA; fLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, Canada; gDivision of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada; hDepartments of Pediatrics and Medicine, Columbia University, New York, NY; iCollege of Social Work, University of Utah, Salt Lake City, UT; jPrincess Margaret Cancer Centre, Toronto, ON, Canada; kCenter for Clinical Cancer Genetics and Department of Medicine, University of Chicago, Chicago, IL; lThe Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA; mDepartment of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT; nDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA; and oDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada.


Report of the National Heart, Lung, and Blood Institute Working Group: An Integrated Network for Congenital Heart Disease Research.
Circulation 2016 Apr;133(14):1410-8
From Department of Pediatrics and Communicable Diseases, University of Michigan C.S. Mott Children's Hospital, Ann Arbor (S.K.P., M.G.G.); Department of Surgery, Johns Hopkins All Children's Heart Institute, St. Petersburg, FL (J.P.J.); National Institute of Mental Health, National Institutes of Health, Bethesda, MD (G.K.F.); Children's Hospital Association, Overland Park, KS (D.B.); Department of Cardiology, Boston Children's Hospital, MA (E.D.B.); Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (K.M.B., G.P., V.L.P., J.R.K.); Department of Pediatrics, Emory University, Atlanta GA (R.C., R.V.); Department of Pediatrics, Children's Hospital of Orange County, Orange, CA (A.C.C.); Department of Pediatrics and Medicine, Columbia University, New York, NY (W.K.C.); Division of Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA (T.R.-C.); Duke Clinical Research Institute, Duke University School of Medicine, Durham, NC (L.H.C.); Departments of Pediatrics (C.B.F.) and Surgery (W.J.G.), Children's Hospital of Philadelphia, PA; Division of Research, Kaiser Permanente Northern California, Oakland, CA (A.S.G.); ArborMetrix Inc, Ann Arbor, MI (P.H.); Department of Pediatrics, George Washington University School of Medicine, Children's National Medical Center, Washington, DC (G.R.M.); and Departments of Critical Care Medicine and Paediatrics, The Hospital for Sick Children and The University of Toronto School of Medicine, ON, Canada (S.M.S.).

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
Nat Commun 2016 Apr 27;7:11375. Epub 2016 Apr 27.
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Am J Hum Genet 2016 Mar;98(3):562-570
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston TX 77030, USA.




De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.
Cold Spring Harb Mol Case Stud 2016 Jan;2(1):a000661
Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.



CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.
J Am Med Inform Assoc 2015 Nov 3;22(6):1231-42. Epub 2015 Jul 3.
Genome Medicine Institute, Geisinger Medical Center, Danville, PA, USA Department of Medicine, Program for Personalized and Genomic Medicine and Center for Health-Related Informatics and Bioimaging, University of Maryland School of Medicine, Baltimore, MD, USA.




De novo mutations in PURA are associated with hypotonia and developmental delay.
Cold Spring Harb Mol Case Stud 2015 Oct;1(1):a000356
Department of Pediatrics, Columbia University Medical Center, New York, New York 10029, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.




Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
J Med Genet 2015 Sep 16;52(9):627-35. Epub 2015 Jul 16.
Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Am J Hum Genet 2015 Sep 20;97(3):457-64. Epub 2015 Aug 20.
Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address:

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.
Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

Abnormal auditory and language pathways in children with 16p11.2 deletion.
Neuroimage Clin 2015 1;9:50-7. Epub 2015 Aug 1.
Department of Radiology, Children's Hospital of Philadelphia, 34th and Civic Center Blvd, Philadelphia, PA 19104, USA ; Department of Radiology, Perelman School of Medicine University of Pennsylvania, 34th and Civic Center Blvd, Philadelphia, PA 19104, USA.

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Breast Cancer Res Treat 2017 01 28;161(1):117-134. Epub 2016 Oct 28.
Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.



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