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:






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.


Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children.
Sci Rep 2015 Dec 21;5:18792. Epub 2015 Dec 21.
The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.



Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.
J Immunol 2015 Aug 17;195(4):1599-607. Epub 2015 Jul 17.
Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104

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:

Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.
J Clin Endocrinol Metab 2014 Sep 13;99(9):E1774-83. Epub 2014 May 13.
Center for Applied Genomics (D.L., C.H., H.H.), Division of Endocrinology and Diabetes (E.E.O., M.A.L.), Division of Allergy and Immunology (F.T.), Division of Pulmonary Medicine (H.H.), and Center for Bone Health (M.A.L.), The Children's Hospital of Philadelphia; and Department of Pediatrics (H.H., M.A.L.), University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; and Endocrinology and Diabetes Unit (D.L.M.), British Columbia Children's Hospital, and Department of Pediatrics (D.L.M.), University of British Columbia, Vancouver, British Columbia, Canada V5Z 4H4.

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:

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
Hum Mol Genet 2013 Apr 20;22(7):1457-64. Epub 2012 Dec 20.
Center for Applied Genomics, Abramson Research Center and Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA.


Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma.
Nat Genet 2012 Oct 2;44(10):1126-30. Epub 2012 Sep 2.
Division of Oncology, Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, 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.








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.









Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy.
Genome Res 2009 Feb 13;19(2):276-83. Epub 2009 Jan 13.
Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, and Abramson Family Cancer Research Institute, Philadelphia, Pennsylvania 19104-4318, USA.

Identification of ALK as a major familial neuroblastoma predisposition gene.
Nature 2008 Oct 24;455(7215):930-5. Epub 2008 Aug 24.
Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.




Neuregulin 1 (NRG1 ) and schizophrenia: analysis of a US family sample and the evidence in the balance.
Psychol Med 2005 Nov;35(11):1599-610
Center for Psychiatric Genetics, Department of Psychiatry and Behavioral Sciences, Evanston Northwestern Healthcare Research Institute, and Northwestern University, 1001 University Place, Evanston, IL 60201, USA.

Polymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophrenia.
Am J Hum Genet 2004 Oct 24;75(4):624-38. Epub 2004 Aug 24.
Center for Psychiatric Genetics, Department of Psychiatry and Behavioral Sciences, Evanston Northwestern Healthcare and Feinberg School of Medicine, Northwestern University, Evanston, IL, USA.

DTNBP1 (Dystrobrevin binding protein 1) and schizophrenia: association evidence in the 3' end of the gene.
Hum Hered 2007 2;64(2):97-106. Epub 2007 May 2.
Center for Psychiatric Genetics, Department of Psychiatry and Behavioral Sciences, Evanston Northwestern Healthcare & Feinberg School of Medicine, Northwestern University, Evanston, Ill, USA.

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.
Genome Med 2013 26;5(7):67. Epub 2013 Jul 26.
Center for Applied Genomics, Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA ; Department of Pediatrics, University of Pennsylvania School of Medicine, 3451 Walnut St, Philadelphia, PA 19104, USA.



Genome-wide association study of serum minerals levels in children of different ethnic background.
PLoS One 2015 17;10(4):e0123499. Epub 2015 Apr 17.
The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

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.

OF