Results 131 to 140 of about 13,128 (181)

HGNC gene_with_protein_product.xlsx

, 2017
Christopher Southan
openalex   +2 more sources

P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

Genetics in Medicine Open, 2023
Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm   +37 more
doaj   +1 more source

Carrier screening for spinal muscular atrophy in Italian population [PDF]

, 2014
Barone,C, Bianca,S, Calì,F, Chiavetta,V, Musumeci,S, Ragalmuto,A, ROMANO, Valentino, Ruggeri,G, Schinocca,P, Scuderi,C, Vitello,GA   +10 more
core   +1 more source

Integrative mendelian randomization approaches for therapeutic target prioritisation in immune-mediated diseases. [PDF]

Sci Rep
Sobczyk MK, Gaunt TR.
europepmc   +1 more source

Sequencing and health data resource of children of African ancestry. [PDF]

Genet Med
Kottyan LC, Richards S, Tracy ME, Lawson LP, Kottyan IC, Curwin A, Cobb B, Esslinger S, Gerwe M, Morgan J, Chandel A, Travitz L, Huang Y, Black C, Sobowale A, Akintobi T, Mitchell MJ, Beck AF, Unaka N, Seid M, Fairbanks S, Adams M, Mersha TB, Namjou B, Pauciulo MW, Strawn JR, Ammerman RT, Santel D, Pestian J, Glauser T, Prows CA, Martin LJ, Muglia L, Harley JB, Chepelev I, Kaufman KM.   +35 more
europepmc   +1 more source

Two codes of RNA editing by deamination in human diseases. [PDF]

Exp Mol Med
Min DJ, Lee S, Lee YS, Cho J.
europepmc   +1 more source

OmniSearch: A semantic search system based on the Ontology for MIcroRNA Target (OMIT) for microRNA-target gene interaction data [PDF]

, 2016
et al,, Wang, Xiaowei
core   +1 more source

Single vs dual genetic disease in children with congenital anomalies and solid tumors. [PDF]

Genet Med Open
Watson DJ, Saeidian AH, Wang X, Harr MH, Liu Y, Li YR, Terek S, de Barcelos IP, Nesbitt A, Nguyen K, Chang X, Connolly J, Hou C, Slaby I, Wang F, Snyder J, Qiu H, Qu H, March ME, Zhao X, Mentch F, Sleiman P, Glessner J, Hakonarson H.   +23 more
europepmc   +1 more source

Development of a comprehensive cardiovascular disease genetic risk assessment test. [PDF]

Genet Med Open
Amendola LM, Coffey AJ, Lowry J, Avecilla J, Malhotra A, Chawla A, Thacker S, Taylor JP, Rajkumar R, Brown CM, Golden-Grant K, Hejja R, Kalista T, Lee JA, Medrano P, Milewski B, Mullen F, Walker A, Huertas-Vazquez A, Longoni M, Robinson K, Perry DL, Hostin D, Ajay SS, Kesari A, Strom SP, Margulies E, Belmont J, Lanfear DE, Taft RJ.   +29 more
europepmc   +1 more source

Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment. [PDF]

Genet Med
Kim J, Ney G, Frone MN, Haley JS, Ramos ML, Mirshahi UL, Astiazaran-Symonds E, Shandrina M, Urban G, Rao HS, Stahl R, Golden A, Yohe ME, Gross AM, Ding Y, Carey DJ, Gelb BD, Stewart DR.   +17 more
europepmc   +1 more source