[PDF][PDF] The allelic landscape of human blood cell trait variation and links to common complex disease

…, L Bomba, K Berentsen, JR Bradley, LC Daugherty… - Cell, 2016 - cell.com
Many common variants have been associated with hematological traits, but identification of
causal genes and pathways has proven challenging. We performed a genome-wide …

[HTML][HTML] Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

…, JM Martin, CM Treacy, K Yates, LC Daugherty… - Nature …, 2018 - nature.com
Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis. Deleterious
variation within components of the transforming growth factor-β pathway, particularly the …

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

…, E Williams, RE Foulger, S Leigh, LC Daugherty… - Nature …, 2019 - nature.com
A fundamental problem in rare-disease diagnostics is the lack of consensus as to which
genes have sufficient evidence to attribute causation. To address this issue, we have created …

Genenames. org: the HGNC resources in 2013

KA Gray, LC Daugherty, SM Gordon… - Nucleic acids …, 2012 - academic.oup.com
The HUGO Gene Nomenclature Committee situated at the European Bioinformatics Institute
assigns unique symbols and names to human genes. Since 2011, the data within our …

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

…, M Cattaneo, P Collins, LC Daugherty… - Blood, The Journal …, 2016 - ashpublications.org
Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300
individuals per million births. With the exception of hemophilia and von Willebrand disease …

[HTML][HTML] The gene curation coalition: a global effort to harmonize gene–disease evidence resources

…, AJ Coffey, H Collins, F Cunningham, LC Daugherty… - Genetics in …, 2022 - Elsevier
Purpose Several groups and resources provide information that pertains to the validity of
gene–disease relationships used in genomic medicine and research; however, universal …

[PDF][PDF] Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis

…, MJ Caulfield, GC Chan, CEH Craig, LC Daugherty… - Neuron, 2021 - cell.com
We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia
(FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data …

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

…, NC Brod, H Clifford, N Cooper, LC Daugherty… - Journal of Allergy and …, 2020 - Elsevier
Background An increasing number of NFKB1 variants are being identified in patients with
heterogeneous immunologic phenotypes. Objective To characterize the clinical and cellular …

Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension

…, CM Treacy, K Yates, LC Daugherty… - American journal of …, 2020 - atsjournals.org
Rationale: Recently, rare heterozygous mutations in GDF2 were identified in patients with
pulmonary arterial hypertension (PAH). GDF2 encodes the circulating BMP (bone …

[HTML][HTML] Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective …

…, D Pasko, ERA Thomas, LC Daugherty… - The Lancet …, 2022 - thelancet.com
Background Repeat expansion disorders affect about 1 in 3000 individuals and are clinically
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …