Publications

Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).
J Pediatr 2017 Dec 18. Epub 2017 Dec 18.
Section of Dermatology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perlman School of Medicine, Philadelphia, PA. Electronic address:



GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Am J Hum Genet 2016 Oct 8;99(4):802-816. Epub 2016 Sep 8.
University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:


Fresh versus Frozen Embryos for Infertility in the Polycystic Ovary Syndrome.
N Engl J Med 2016 Aug;375(6):523-33
From the Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Key Laboratory of Reproductive Endocrinology, Shandong University, Ministry of Education, and National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan (Z.-J.C., Y. Shi, D.W., J. Li, J. Yan, Y.Q., H. Zhao), Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University (Z.-J.C., Y. Sun), and Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics (Z.-J.C., Y. Sun), Shanghai, Center for Reproductive Medicine, Maternal and Child Health Hospital in Guangxi, Guangxi (B.Z.), Reproductive Medicine Center, the Sixth Affiliated Hospital of Sun Yat-sen University (X.L.) and Center for Reproductive Medicine, Sun Yat-sen Memorial Hospital, Sun Yat-sen University (D.Y.), Guangzhou, Center for Reproductive Medicine, the First Affiliated Hospital of Anhui Medical University, Hefei (Y.C.), Center for Reproductive Medicine, Wuhan University, Wuhan (J. Yang), Department of Obstetrics and Gynecology, First Affiliated Hospital of Nanjing Medical University, Nanjing (J. Liu), Reproductive Medicine Center of Jinghua Hospital, Shenyang (N.W.), Center for Reproductive Medicine, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang (L.T.), Center for Reproductive Medicine of Yantai Yuhuangding Hospital, Yantai (C.H.), Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou (F.Z.), Assisted Reproduction Center, Maternal and Child Health Care Hospital of Shanxi Province, Xi'an (J.S.), and Center for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou (Y.X.) - all in China; Department of Biostatistics, Yale University School of Public Health, New Haven, CT (H. Zhang); and Department of Obstetrics and Gynecology, Penn State College of Medicine, Hershey (R.S.L.).

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.
J Clin Endocrinol Metab 2016 May 10;101(5):2196-200. Epub 2016 Mar 10.
The Center for Applied Genomics (D.L., L.T., C.H., C.E.K., H.H.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104; Department of Pediatrics (H.H., M.A.L.), University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; and Division of Endocrinology and Diabetes and the Center for Bone Health (M.A.L.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.




Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Clin Exp Ophthalmol 2015 Mar 2;43(2):132-8. Epub 2014 Oct 2.
Eye and Developmental Genetics Research Group, The Children's Hospital at Westmead, Sydney, New South Wales, Australia; Eye Genetics Group, Children's Medical Research Institute, Sydney, New South Wales, Australia.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.
Neuromuscul Disord 2015 Mar 10;25(3):257-61. Epub 2014 Dec 10.
BGI-Shenzhen, Shenzhen 518083, China; The Guangdong Enterprise Key Laboratory of Human Disease Genomics, BGI-Shenzhen, Shenzhen, China.





Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:




Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.
Genome Med 2013 27;5(3):28. Epub 2013 Mar 27.
Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Rd, Cold Spring Harbor, 11724, USA ; Stony Brook University, 100 Nicolls Rd, Stony Brook, 11794, USA ; Utah Foundation for Biomedical Research, E 3300 S, Salt Lake City, 84106, USA.






Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.
Case Rep Genet 2016 16;2016:4140780. Epub 2016 Mar 16.
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.
BMC Musculoskelet Disord 2016 11 9;17(1):462. Epub 2016 Nov 9.
Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.

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