Publications




Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease.
Inflamm Bowel Dis 2016 Jul;22(7):1540-51
*Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; †Department of Computer Science, New Jersey Institute of Technology, Newark, New Jersey; ‡Center for Pediatric Inflammatory Bowel Disease, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; §Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; and ‖Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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.

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.
J Thorac Cardiovasc Surg 2016 Apr 10;151(4):1147-51.e4. Epub 2015 Nov 10.
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Wash; Department of Genome Sciences, University of Washington, Seattle, Wash. Electronic address:


Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.
Hum Reprod 2015 Oct 24;30(10):2439-51. Epub 2015 Jul 24.
Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA Department of Molecular Medicine, Sapienza University, Rome, Italy.



Rare variants at 16p11.2 are associated with common variable immunodeficiency.
J Allergy Clin Immunol 2015 Jun 10;135(6):1569-77. Epub 2015 Feb 10.
Center for Applied Genomics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, Pa; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pa; Department of Pediatrics, Perelman School of Medicine Philadelphia, University of Pennsylvania, Philadelphia, Pa. Electronic address:

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.
J Urol 2015 May 25;193(5):1637-45. Epub 2014 Oct 25.
Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Molecular Medicine, Sapienza University, Rome, Italy.

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.
Hum Mol Genet 2015 Jan 18;24(1):265-73. Epub 2014 Aug 18.
Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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:




Common variants at 12q15 and 12q24 are associated with infant head circumference.
Nat Genet 2012 Apr 15;44(5):532-538. Epub 2012 Apr 15.
Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
Am J Hum Genet 2012 Mar 9;90(3):410-25. Epub 2012 Feb 9.
Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA.





Genome-wide association identifies diverse causes of common variable immunodeficiency.
J Allergy Clin Immunol 2011 Jun 17;127(6):1360-7.e6. Epub 2011 Apr 17.
Division of Allergy and Immunology, Children's Hospital of Philadelphia Research Institute, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
Am J Hum Genet 2011 Jan 30;88(1):6-18. Epub 2010 Dec 30.
Department of Medicine and Biochemistry, University of Western Ontario, London, Ontario, N6A 5C1, Canada.

Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder.
PLoS One 2010 Dec 1;5(12):e15463. Epub 2010 Dec 1.
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.








Common variants at five new loci associated with early-onset inflammatory bowel disease.
Nat Genet 2009 Dec 15;41(12):1335-40. Epub 2009 Nov 15.
Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.















Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.
Appl Clin Genet 2009 9;2:1-5. Epub 2009 Dec 9.
Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA ; Department of Pediatrics and Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA ; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, 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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