Publications

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
Nat Genet 2017 Sep 17;49(9):1373-1384. Epub 2017 Jul 17.
Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.




Pain versus analgesia: TAOK3 as a pharmacogene.
Pain 2017 Aug;158(8):1622-1623
aDepartment of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA bThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA cDepartment of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.




Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
JIMD Rep 2017 26;32:117-124. Epub 2016 Jun 26.
Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia.


Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.
Circ Cardiovasc Genet 2017 Jun;10(3):e001449
From the Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston (A.J.A., A.S., L.E.M.); Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (E.G.); and Division of Cardiology (E.G., H.H.), Center for Applied Genomics (H.H.), and Department of Biomedical and Health Informatics (D.T.), The Children's Hospital of Philadelphia, PA.



Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium.
PLoS Genet 2017 Apr 21;13(4):e1006719. Epub 2017 Apr 21.
Department of Epidemiology, University of North Carolina, Chapel Hill, NC, United States of America.




PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.
Lancet Diabetes Endocrinol 2017 Feb 29;5(2):97-105. Epub 2016 Nov 29.
Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK. Electronic address:



Mendelian randomization analysis demonstrates that low vitamin D is unlikely causative for pediatric asthma.
J Allergy Clin Immunol 2016 Dec 20;138(6):1747-1749.e4. Epub 2016 Aug 20.
Center for Applied Genomics, the Children's Hospital of Philadelphia, Philadelphia, Pa; Division of Pulmonary Medicine, the Children's Hospital of Philadelphia, Philadelphia, Pa; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. Electronic address:

CYP2B6*6 or Not CYP2B6*6-That Remains a Question for Precision Medicine and Ketamine!
Anesthesiology 2016 Dec;125(6):1085-1087
From the Department of Anesthesiology and Critical Care Medicine (S.D.C.-S.), Department of Pediatrics (P.C.A.), and Department of Pediatrics and the Center for Applied Genomics (J.L., H.H.), The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.

Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches.
Biochim Biophys Acta 2016 Nov 15;1860(11 Pt B):2656-63. Epub 2016 Jun 15.
Center for Applied Genomics, Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Perelman School of Medicine, University of Pennsylvania, 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 Nov 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.



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:

Genome-wide associations for birth weight and correlations with adult disease.
Nature 2016 Oct 28;538(7624):248-252. Epub 2016 Sep 28.
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon and Exeter Hospital, Exeter, UK.






A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
J Allergy Clin Immunol 2016 Aug 23;138(2):599-601.e3. Epub 2016 Mar 23.
Baylor College of Medicine and Texas Children's Hospital, Department of Pediatrics, Section of Immunology, Allergy and Rheumatology and Center for Human Immunobiology, Houston, Tex. Electronic address:

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
Am J Med Genet A 2016 Aug 5;170(8):1967-73. Epub 2016 Jun 5.
Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.


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.


Are genetic tests informative in predicting food allergy?
Curr Opin Allergy Clin Immunol 2016 Jun;16(3):257-64
aCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA bDepartment of Immunology, Landspitali University Hospital, Reykjavik, Iceland cDivision of Human Genetics, The Children's Hospital of Philadelphia dThe Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.
Brain 2016 Jun 5;139(Pt 6):1666-72. Epub 2016 May 5.
2 Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, 02114, USA 10 Program in Medical and Population Genetics, Broad Institute, Cambridge, 02142, MA, USA 12 Department of Anaesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.


Common and Dissociable Mechanisms of Executive System Dysfunction Across Psychiatric Disorders in Youth.
Am J Psychiatry 2016 May 22;173(5):517-26. Epub 2016 Jan 22.
From the Departments of Psychiatry, of Biostatistics and Epidemiology, of Radiology, and of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia; the NIMH Mood and Anxiety Disorders Program, Bethesda, Md.; the Center for Applied Genomics, Children's Hospital of Philadelphia; and the Philadelphia Veterans Administration Medical Center, Philadelphia.

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.

Structural Brain Abnormalities in Youth With Psychosis Spectrum Symptoms.
JAMA Psychiatry 2016 May;73(5):515-24
Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia3Department of Radiology, University of Pennsylvania, Philadelphia.



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:



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.


Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight.
JAMA 2016 Mar;315(11):1129-40
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon and Exeter Hospital, Exeter, United Kingdom5Medical Research Council Integrative Epidemiology Unit at the University of Bristol, United Kingdom.





Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.
Hum Mol Genet 2016 Jan 24;25(2):389-403. Epub 2015 Nov 24.
The Generation R Study Group, Department of Pediatrics, Department of Epidemiology.


Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
Hum Genomics 2016 Jan 18;10. Epub 2016 Jan 18.
Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA.

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
Nat Genet 2015 Dec 19;47(12):1449-1456. Epub 2015 Oct 19.
Department of Dermatology, Allergology and Venereology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.


Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR).
BioData Min 2015 14;8:41. Epub 2015 Dec 14.
Institute for Quantitative Biomedical Sciences at Dartmouth, Hanover, NH USA ; Department of Epidemiology, Geisel School of Medicine at Dartmouth, One Medical Center Drive, 7927 Rubin Building, Lebanon, NH 03756 USA.

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 variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
Hum Genomics 2015 Nov 11;9:31. Epub 2015 Nov 11.
Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA.





The Role of ARF6 in Biliary Atresia.
PLoS One 2015 17;10(9):e0138381. Epub 2015 Sep 17.
Hillman Center for Pediatric Transplantation of the Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center (UPMC), Pittsburgh, PA, 15224, United States of America.

Pathway-Based Genome-Wide Association Studies for Plasma Triglycerides in Obese Females and Normal-Weight Controls.
PLoS One 2015 26;10(8):e0134923. Epub 2015 Aug 26.
Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, 300070, China; Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, United States of America.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
N Engl J Med 2017 02 25;376(8):742-754. Epub 2017 Jan 25.
From the Division of Nephrology (E.L.-R., M.V., V.P.C., Z.Y., A.M., J.M., N.J.S., D.A.F., R.D., M.W., G.S.M., M.B., J.M.B., K.K., A.G.G., S.S.-C.) and the Division of Nephrology in Medicine and Zuckerman Mind Brain Behavior Institute (B.H.), the Departments of Systems Biology (D.S.P., B.H.), Biochemistry and Molecular Biophysics (B.H.), and Pathology (V.D.), and the Howard Hughes Medical Institute (D.S.P., B.H.), Columbia University, and the Department of Genetics and Development, Columbia University Medical Center (Q.L., V.E.P.), New York, and the Department of Genetics, Albert Einstein College of Medicine, Bronx (S.E.R., B.E.M.) - all in New York; the Center for Human Disease Modeling, Duke University, Durham, NC (Y.P.L., B.R.A., N. Katsanis); the Departments of Internal Medicine-Nephrology (E.A.O.) and Pediatrics-Nephrology (M.G.S., C.E.G., V.V.-W.), University of Michigan School of Medicine, Ann Arbor; the Department of Anatomy, Histology, and Embryology, School of Medicine, University of Split (K.V., M.S.-B.), and the Departments of Pediatrics (A.A., M. Saraga) and Pathology (N. Kunac), University Hospital of Split, Split, Croatia; the Department of Pediatric Nephrology, VU University Medical Center, Amsterdam (R.W., J.A.E.W.); the Department of Medicine, Boston Children's Hospital (A.V., F.H.), and Harvard Medical School, Boston (A.V., F.H., I.A.D.), and the Nephrology Division, Massachusetts General Hospital, Charlestown (I.A.D.) - all in Massachusetts; the Division of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa (M.B., A.C., G.M.G.), the Department of Clinical and Experimental Medicine, University of Parma (M.B., M. Maiorana, L.A.), and the Pediatric Surgery Unit, University Hospital of Parma (E.C.), Parma, the Section of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.), the Department of Medical Sciences, University of Milano, and Institute of Biomedical Technologies, Italian National Institute of Research ITB-CNR, Milan (D.C.), and Dipartimento Ostetrico-Ginecologico e Seconda Divisione di Nefrologia ASST Spedali Civili e Presidio di Montichiari (C.I.) and Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari (F.S.), Brescia - all in Italy; the Department of General and Transplant Surgery, University Hospital of Heidelberg, Germany (V.J.L.); the Department of Pediatric Nephrology, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.S., L.H., C.J.), INSERM UMR 1163, Laboratory of Hereditary Kidney Diseases (R.S.), Necker-Enfants Malades Hospital, Paris Descartes-Sorbonne Paris Cite University, Imagine Institute (R.S.), Sorbonne Universités, UPMC 06, Plateforme Post-génomique de la Pitié-Salpêtrière, UMS 2 Omique, Inserm US029 (W.C.), Paris, and the Department of Genetics, Centre Hospitalier Universitaire de Reims, Unité de Formation et de Recherche de Médecine, Reims (D.G.) - both in France; the Department of Neurology, University of Washington School of Medicine, and Northwest VA Parkinson's Disease Research, Education and Clinical Centers, Seattle (A. Samii); the Division of Human Genetics, Department of Pediatrics, 22q and You Center, Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania (D.M.M.-M., T.B.C., E.H.Z., S.L.F.), Division of Nephrology, Children's Hospital of Philadelphia (S.L.F.), and the Department of Genetics, University of Pennsylvania (H.H.), Philadelphia; the Dialysis Unit, Jagiellonian University Medical College (D.D.), and the Department of Pediatric Nephrology, Jagiellonian University Medical College (M. Miklaszewska), Krakow, the Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz (M.T.), the Department of Pediatric Nephrology Medical University of Lublin, Lublin (P.S.), the Department of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice (M. Szczepanska), the Department of Pediatrics and Nephrology, Medical University of Warsaw, Warsaw (M.M.-W., G.K., A. Szmigielska), and Krysiewicza Children's Hospital (M.Z.) and the Department of Medical Genetics, Poznan University of Medical Sciences, and Center for Medical Genetics GENESIS (A.L.-B., A.M.-K.), Poznań - all in Poland; the Department of Clinical Genetics (J.M.D., D.B.), National Children's Research Centre (J.M.D., P.P.), and University College Dublin School of Medicine (D.B.), Our Lady's Children's Hospital Crumlin, and the National Children's Hospital Tallaght (P.P.), Dublin, Ireland; the Division of Pediatric Nephrology, Children's Mercy Hospital, Kansas City, MO (B.A.W.); University Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia (Z.G., V.T.); Faculty of Medicine, Palacky University, Olomouc, Czech Republic (H.F.); the Division of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque (C.S.W.); Ben May Department for Cancer Research, University of Chicago, Chicago (A.I.); and the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (R.P.L.).

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