William A. Gahl

发表

Design of a quantitative method for detection of allele-specific RNA expression

R Klootwijk, Paul J.M. Savelkoul, Carla Ciccone, 2005 .

Molecular basis of the Hartnup disorder

Detlef Bockenhauer, Robert Kleta, William A. Gahl, 2005 .

VarSight: prioritizing clinically reported variants with binary classification algorithms

Yong Huang, Alexa T. McCray, Pengfei Liu, 2019, BMC Bioinformatics.

3-Methylglutaconic aciduria type III: Insights into the OPA3 protein.

Yair Anikster, William A. Gahl, Marjan Huizing, 2008 .

Leucodistrofia autosomica dominante dell’adulto (ADLD) associata a duplicazione del gene LMNB1: identificazione dei breakpoint e studio dell’espressione in otto famiglie

Eleonora Di Gregorio, Pietro Cortelli, William A. Gahl, 2011 .

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

Baris Turkbey, Peter L. Choyke, Iclal Ocak, 2009, Pediatric Radiology.

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

Sue Povey, Miikka Vikkula, Matthieu Schmittbuhl, 2013, Nephron Physiology.

The Immunome in Two Inherited Forms of Pulmonary Fibrosis

Yuri Kotliarov, Angélique Biancotto, William A. Gahl, 2018, Front. Immunol..

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Anthony Sandler, Nancy F. Hansen, Jamie K. Teer, 2011, PLoS genetics.

Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

Carla Ciccone, William A. Gahl, Marjan Huizing, 2011, The Journal of investigative dermatology.

Cysteamine Suppresses Invasion, Metastasis and Prolongs Survival by Inhibiting Matrix Metalloproteinases in a Mouse Model of Human Pancreatic Cancer

William A. Gahl, Akiko Suzuki, Raj K. Puri, 2012, PloS one.

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

Damian Smedley, Cheng-Kang Hsieh, Karen Xu, 2017, Front. Med..