Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: HEXA: 1422G>C; Trp474Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Dose of Isoniazid in Renal Disease for Treatment of Tuberculosis.

Annals Of Indian Academy Of Neurology

Sarma, G R K GRK

Publication Date: 2022

Variant appearance in text: HEXA: 1422G>C; W474C

PubMed Link: 35936603

Variant Present in the following documents:

• AIAN-25-502b.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: HEXA: W474C; rs121907981

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: HEXA: 1422G>C; Trp474Cys; rs121907981

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Combining lexical and context features for automatic ontology extension.

Journal Of Biomedical Semantics

Althubaiti, Sara S; Kafkas, Şenay Ş; Abdelhakim, Marwa M; Hoehndorf, Robert R

Publication Date: 2020-01-13

Variant appearance in text: HEXA: W474C

PubMed Link: 31931870

Variant Present in the following documents:

• 13326_2019_218_MOESM2_ESM.xls, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: HEXA: 1422G>C; W474C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Molecular Genetics And Metabolism Reports

Ou, Li L; Kim, Sarah S; Whitley, Chester B CB; Jarnes-Utz, Jeanine R JR

Publication Date: 2019-09

Variant appearance in text: HEXA: Trp474Cys

PubMed Link: 31367523

Variant Present in the following documents:

• Main text
• main.pdf

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: HEXA: W474C; rs121907981

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Functional annotation of structural ncRNAs within enhancer RNAs in the human genome: implications for human disease.

Scientific Reports

Ren, Chao C; Liu, Feng F; Ouyang, Zhangyi Z; An, Gaole G; Zhao, Chenghui C; Shuai, Jun J; Cai, Shuhong S; Bo, Xiaochen X; Shu, Wenjie W

Publication Date: 2017-11-14

Variant appearance in text: rs121907981

PubMed Link: 29138457

Variant Present in the following documents:

• 41598_2017_15822_MOESM8_ESM.xlsx, sheet 7
• 41598_2017_15822_MOESM8_ESM.xlsx, sheet 8

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HEXA: W474C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: HEXA: W474C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon.

Nucleic Acids Research

Fu, Yuan Y; Masuda, Akio A; Ito, Mikako M; Shinmi, Jun J; Ohno, Kinji K

Publication Date: 2011-05

Variant appearance in text: HEXA: W474C

PubMed Link: 21288883

Variant Present in the following documents:

• gkr026.pdf

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An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).

Molecular Genetics And Metabolism

Clarke, Joe T R JT; Mahuran, Don J DJ; Sathe, Swati S; Kolodny, Edwin H EH; Rigat, Brigitte A BA; Raiman, Julian A JA; Tropak, Michael B MB

Publication Date: 2011-01

Variant appearance in text: HEXA: W474C

PubMed Link: 20926324

Variant Present in the following documents:

• Main text

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The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Pediatrics

Maegawa, Gustavo H B GH; Stockley, Tracy T; Tropak, Michael M; Banwell, Brenda B; Blaser, Susan S; Kok, Fernando F; Giugliani, Roberto R; Mahuran, Don D; Clarke, Joe T R JT

Publication Date: 2006-11

Variant appearance in text:

PubMed Link: 17015493

Variant Present in the following documents:

• Main text

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Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.

Journal Of Molecular Biology

Lemieux, M Joanne MJ; Mark, Brian L BL; Cherney, Maia M MM; Withers, Stephen G SG; Mahuran, Don J DJ; James, Michael N G MN

Publication Date: 2006-06-16

Variant appearance in text: HEXA: W474C

PubMed Link: 16698036

Variant Present in the following documents:

• Main text

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