Michael Yourshaw

发表

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Monique M. Ryan, Stanley F. Nelson, Andrew J. Kornberg, 2012, Nature Genetics.

Exome Sequencing Finds a Novel PCSK1 Mutation in a Child With Generalized Malabsorptive Diarrhea and Diabetes Insipidus

Jiafang Wang, S. Nelson, I. Lindberg, 2013, Journal of pediatric gastroenterology and nutrition.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Eric Vilain, Samuel P Strom, Michelle Fox, 2014, JAMA.

Pontocerebellar hypoplasia type 1

S. Nelson, W. Reardon, F. Muntoni, 2013, Neurology.

Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort.

C. Sokollik, I. Lindberg, Martín G. Martín, 2013, Gastroenterology.

A Novel Familial Mutation in the PCSK1 Gene That Alters the Oxyanion Hole Residue of Proprotein Convertase 1/3 and Impairs Its Enzymatic Activity

I. Lindberg, O. Pappo, Martín G. Martín, 2014, PloS one.

DNA‐Based versus RNA‐Based Detection of MET Exon 14 Skipping Events in Lung Cancer

Carolyn A Lawrence, R. Camidge, K. Davies, 2019, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

Functional Consequences of a Novel Variant of PCSK1

S. Nelson, I. Lindberg, Martín G. Martín, 2013, PloS one.

Rare deleterious mutations are associated with disease in bipolar disorder families

Aliz R. Rao, S. Nelson, B. Kerner, 2016, Molecular Psychiatry.

Rare Genomic Variants Link Bipolar Disorder with Anxiety Disorders to CREB-Regulated Intracellular Signaling Pathways

Aliz R. Rao, Stanley F. Nelson, Berit Kerner, 2013, Front. Psychiatry.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

P. Lockhart, S. Nelson, K. Zerres, 2016, Brain : a journal of neurology.

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

C. Boland, C. Putnam, Martín G. Martín, 2018, Human mutation.

Rich annotation of DNA sequencing variants by leveraging the Ensembl Variant Effect Predictor with plugins

Aliz R. Rao, Stanley F. Nelson, Michael Yourshaw, 2015, Briefings Bioinform..

System for Informatics in the Molecular Pathology Laboratory: An Open-Source End-to-End Solution for Next-Generation Sequencing Clinical Data Management.

Jorge Andrade, Samuel L Volchenboum, Dara L Aisner, 2018, The Journal of molecular diagnostics : JMD.

Loss of ADAM17 is associated with severe multiorgan dysfunction.

S. Nelson, A. Karrenbeld, P. Rump, 2015, Human pathology.

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Joshua L. Deignan, S. Nelson, W. Grody, 2014, JAMA.