Publications


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:

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.



Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.
Neurol Genet 2016 Apr 3;2(2):e60. Epub 2016 Mar 3.
Department of Histology and Embryology (Y.Y., L.Z.), Hebei Medical University, China; Division of Neuromuscular Medicine (Y.Y., K.A., E.R., J.H.N., H.-X.D., N.S., T.S.), Davee Department of Neurology and Clinical Neurosciences and Department of Pharmacology (T.J.L.), Northwestern University Feinberg School of Medicine, Chicago, IL; Department of Neurology (D.L.) and Department of Pediatrics (P.M.A.S.), the Perelman School of Medicine, University of Pennsylvania, Philadelphia; and Department of Neurology (K.A.S.) and The Center for Applied Genomics (P.M.A.S.), The Children's Hospital of Philadelphia, PA.


The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.
Neuroimage 2016 Jan 31;124(Pt B):1115-9. Epub 2015 Mar 31.
Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative.
J Child Psychol Psychiatry 2015 Dec 8;56(12):1356-1369. Epub 2015 Apr 8.
University of Pennsylvania, Department of Psychiatry, Neuropsychiatry Section, Perelman School of Medicine, PA, United States.

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.
Alzheimers Dement 2015 Dec 30;11(12):1407-1416. Epub 2015 Apr 30.
Platform for Genome Analytics, Institutes of Neurogenetics & Integrative and Experimental Genomics, University of Lübeck, Lübeck, Germany; Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany; Neuroepidemiology and Ageing Research Unit, School of Public Health, Faculty of Medicine, The Imperial College of Science, Technology, and Medicine, London, UK.

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

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.

GWAS identifies four novel eosinophilic esophagitis loci.
Nat Commun 2014 Nov 19;5:5593. Epub 2014 Nov 19.
1] The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA [2] Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania Philadelphia, Philadelphia, Pennsylvania 19104, USA.

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.
Front Genet 2014 18;5:51. Epub 2014 Mar 18.
The Center for Applied Genomics, Children's Hospital of Philadelphia Philadelphia, PA, USA ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.

Thymic stromal lymphopoietin-mediated extramedullary hematopoiesis promotes allergic inflammation.
Immunity 2013 Dec;39(6):1158-70
Department of Microbiology, Institute for Immunology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

Gene network analysis in a pediatric cohort identifies novel lung function genes.
PLoS One 2013 2;8(9):e72899. Epub 2013 Sep 2.
Division of Pulmonary Medicine and Cystic Fibrosis Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.



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.



A genome-wide association meta-analysis identifies new childhood obesity loci.
Nat Genet 2012 May;44(5):526-31
Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Age group and sex differences in performance on a computerized neurocognitive battery in children age 8-21.
Neuropsychology 2012 Mar 16;26(2):251-65. Epub 2012 Jan 16.
Brain Behavior Laboratory, Department of Psychiatry, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA19104, USA.



Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.
Nat Genet 2011 Dec 25;44(2):187-92. Epub 2011 Dec 25.
Medical Research Council Centre for Causal Analyses in Translational Epidemiology, University of Bristol, Bristol, UK.


Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
Nature 2011 Aug 10;476(7359):214-9. Epub 2011 Aug 10.




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 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Nat Genet 2010 Mar 14;42(3):234-9. Epub 2010 Feb 14.
[1] Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA. [2] These authors contributed equally to this work.



Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.
Nat Cell Biol 2009 Nov 4;11(11):1370-5. Epub 2009 Oct 4.
Institut de Pharmacologie Moléculaire et Cellulaire, UMR6097 CNRS/UNSA, Equipe labellisée Fondation pour la Recherche Médicale, 660 Route des Lucioles, 06560, Valbonne, France.





Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood.
Am J Respir Crit Care Med 2009 Feb 21;179(3):179-85. Epub 2008 Nov 21.
Copenhagen Studies on Asthma in Childhood, The Danish Paediatrics Asthma Centre, Faculty of Health Sciences, University of Copenhagen, Gentofte Hospital, Ledreborg Alle 34, DK-2900 Gentofte, Copenhagen, Denmark.







A common LRRK2 mutation in idiopathic Parkinson's disease.
Lancet 2005 Jan 29-Feb 4;365(9457):415-6
Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.




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