R. Hastings

发表

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Davis J. McCarthy, Calliope A. Dendrou, Lisa J. Murray, 2015, Nature Genetics.

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Jiannis Ragoussis, Andrea H. Németh, David Buck, 2013, Brain : a journal of neurology.

Treatment of COVID-19: a review of current and prospective pharmacotherapies.

R. Hastings, R. Jha, H. Tahir, 2021, British journal of hospital medicine.

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

M. Weedon, S. Ellard, K. Paszkiewicz, 2011, American journal of human genetics.

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction

A. Pagnamenta, S. Knight, H. Watkins, 2016, Circulation. Cardiovascular genetics.

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature

N. S. Thomas, J. Rankin, S. Tomkins, 2009, American journal of medical genetics. Part A.

Ureteric obstruction secondary to retroperitoneal fibrosis leading to acute kidney injury

R. Hastings, H. Bjorndalen, 2013, BMJ Case Reports.

A Novel Familial Cardiac Arrhythmia Syndrome with Widespread ST-Segment Depression.

S. Brunak, A. Wilde, H. Wellens, 2018, The New England journal of medicine.

in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

M. Weedon, S. Ellard, K. Paszkiewicz, 2011 .

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction

A. Pagnamenta, S. Knight, H. Watkins, 2016, Circulation. Cardiovascular genetics.

Comparison of physiological impairment in ILD patients with and without diagnostic IPF features

D. Parr, R. Hastings, F. Woodhead, 2014 .