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Publications by Michael A. Simpson
Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
American Journal of Human Genetics
Genetics
Frequency of Pathogenic Germline Variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in Ductal Carcinoma in Situ Diagnosed in Women Under the Age of 50 Years
Breast Cancer Research
Cancer Research
Oncology
PIK3CA Mutations Are Common in Lobular Carcinoma in Situ, but Are Not a Biomarker of Progression
Breast Cancer Research
Cancer Research
Oncology
Homozygous Missense Mutation inIL36RNin Generalized Pustular Dermatosis With Intraoral Involvement Compatible With Both AGEP and Generalized Pustular Psoriasis
JAMA Dermatology
Dermatology
Medicine
Novel ADA 2 Mutation Presenting With Neutropenia, Lymphopenia and Bone Marrow Failure in Patients With Deficiency in Adenosine Deaminase 2 ( DADA 2)
British Journal of Haematology
Hematology
An In-Depth Characterization of the Major Psoriasis Susceptibility Locus Identifies Candidate Susceptibility Alleles Within an HLA-C Enhancer Element
PLoS ONE
Multidisciplinary
Sequence Alterations Within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration
American Journal of Human Genetics
Genetics
