William G. Newman

Research interests

Publications

• Recommendations for clinical interpretation of variants found in non-coding regions of the genome

  Genome Medicine · 2022 · https://doi.org/10.1186/s13073-022-01073-3

• Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot

  Circulation Research · 2019 · https://doi.org/10.1161/circresaha.118.313250

• Germline selection shapes human mitochondrial DNA diversity

  Science · 2019 · https://doi.org/10.1126/science.aau6520

• Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

  The American Journal of Human Genetics · 2017 · https://doi.org/10.1016/j.ajhg.2017.11.013

• Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

  Nature Genetics · 2017 · https://doi.org/10.1038/ng.3760

• Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7

  Nature Genetics · 2017 · https://doi.org/10.1038/ng.3761

• Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

  Ophthalmology · 2016 · https://doi.org/10.1016/j.ophtha.2016.01.009

• Identification of Patients With Variants in TPMT and Dose Reduction Reduces Hematologic Events During Thiopurine Treatment of Inflammatory Bowel Disease

  Gastroenterology · 2015 · https://doi.org/10.1053/j.gastro.2015.06.002

• Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

  Immunity · 2015 · https://doi.org/10.1016/j.immuni.2015.04.021

• Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

  Nature Genetics · 2015 · https://doi.org/10.1038/ng.3359

• Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations

  Journal of Clinical Oncology · 2014 · https://doi.org/10.1200/jco.2014.58.2569

• Human SNP Links Differential Outcomes in Inflammatory and Infectious Disease to a FOXO3-Regulated Pathway

  Cell · 2013 · https://doi.org/10.1016/j.cell.2013.08.034

• CYP2D6 Genotype and Adjuvant Tamoxifen: Meta-Analysis of Heterogeneous Study Populations

  Clinical Pharmacology & Therapeutics · 2013 · https://doi.org/10.1038/clpt.2013.186

• Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

  The American Journal of Human Genetics · 2013 · https://doi.org/10.1016/j.ajhg.2013.02.013

• Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2552

• The genetic basis of DOORS syndrome: an exome-sequencing study

  The Lancet Neurology · 2013 · https://doi.org/10.1016/s1474-4422(13)70265-5

• Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

  Nature · 2012 · https://doi.org/10.1038/nature11582

• Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

  Nature Genetics · 2011 · https://doi.org/10.1038/ng.764

• Epidermal Growth Factor Receptor in Pancreatic Cancer

  Cancers · 2011 · https://doi.org/10.3390/cancers3021513

• Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

  Nature Genetics · 2010 · https://doi.org/10.1038/ng.717

• Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.483

• Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis

  Journal of Medical Genetics · 2008 · https://doi.org/10.1136/jmg.2007.056499

• Heterozygous Mutations in TREX1 Cause Familial Chilblain Lupus and Dominant Aicardi-Goutières Syndrome

  The American Journal of Human Genetics · 2007 · https://doi.org/10.1086/513443

• Functional variants of OCTN cation transporter genes are associated with Crohn disease

  Nature Genetics · 2004 · https://doi.org/10.1038/ng1339

• High-level transgene expression in plant cells: effects of a strong scaffold attachment region from tobacco.

  The Plant Cell · 1996 · https://doi.org/10.1105/tpc.8.5.899

Current projects

No projects listed.