Dennis E. Bulman

发表

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

J. Shendure, B. O’Roak, C. Cytrynbaum, 2012, Nature Genetics.

An approach to ascertain probands with a non-traditional risk factor for carotid atherosclerosis.

R. Hegele, J. Spence, D. Bulman, 1999, Atherosclerosis.

2012 Landes Bioscience. Do not distribute. Guidelines for the use and interpretation of assays for monitoring autophagy

Thomas J. Begley, H. Coller, F. Chisari, 2012 .

ATM mutations in Finnish breast cancer patients

A. Børresen-Dale, R. Winqvist, Z. Talebizadeh, 2002, Journal of medical genetics.

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1

J. Allanson, L. Racacho, D. Bulman, 2015, European Journal of Human Genetics.

Single and multiple dose pharmacokinetics of nelfinavir and CYP2C19 activity in human immunodeficiency virus-infected patients with chronic liver disease.

D. Bulman, A. Badley, K. Gallicano, 2000, British journal of clinical pharmacology.

A novel sodium channel mutation in a family with hypokalemic periodic paralysis

G. Ebers, D. Bulman, A. Hahn, 1999, Neurology.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy

E. Sell, K. Boycott, D. Bulman, 2014, Clinical genetics.

Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families

M. Tarnopolsky, K. Boycott, D. Bulman, 2018, Clinical genetics.