Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs199877522

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.

Nature Communications

Arnadottir, Gudny A GA; Oddsson, Asmundur A; Jensson, Brynjar O BO; Gisladottir, Svanborg S; Simon, Mariella T MT; Arnthorsson, Asgeir O AO; Katrinardottir, Hildigunnur H; Fridriksdottir, Run R; Ivarsdottir, Erna V EV; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Barrick, Rebekah R; Saemundsdottir, Jona J; le Roux, Louise L; Oskarsson, Gudjon R GR; Asmundsson, Jurate J; Steffensen, Thora T; Gudmundsson, Kjartan R KR; Ludvigsson, Petur P; Jonsson, Jon J JJ; Masson, Gisli G; Jonsdottir, Ingileif I; Holm, Hilma H; Jonasson, Jon G JG; Magnusson, Olafur Th OT; Thorarensen, Olafur O; Abdenur, Jose J; Norddahl, Gudmundur L GL; Gudbjartsson, Daniel F DF; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Stefansson, Kari K

Publication Date: 2022-02-04

Variant appearance in text: GNE: Asp378Tyr

PubMed Link: 35121750

Variant Present in the following documents:

• Main text
• 41467_2022_Article_28330.pdf
• 41467_2022_28330_MOESM2_ESM.pdf
• 41467_2022_28330_MOESM1_ESM.pdf

View BVdb publication page

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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: GNE: D378Y; rs199877522

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

View BVdb publication page

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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: rs199877522

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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GNE genotype explains 20% of phenotypic variability in GNE myopathy.

Neurology. Genetics

Pogoryelova, Oksana O; Wilson, Ian J IJ; Mansbach, Hank H; Argov, Zohar Z; Nishino, Ichizo I; Lochmüller, Hanns H

Publication Date: 2019-02

Variant appearance in text: rs199877522

PubMed Link: 30842975

Variant Present in the following documents:

• NG2018009134.pdf

View BVdb publication page

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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: GNE: D378Y; rs199877522

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Carrillo, Nuria N; Malicdan, May C MC; Huizing, Marjan M

Publication Date: 2018-10

Variant appearance in text: GNE: D378Y

PubMed Link: 30338442

Variant Present in the following documents:

• Main text

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: GNE: D378Y; rs199877522

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Increased amyloid β-peptide uptake in skeletal muscle is induced by hyposialylation and may account for apoptosis in GNE myopathy.

Oncotarget

Bosch-Morató, Mònica M; Iriondo, Cinta C; Guivernau, Biuse B; Valls-Comamala, Victòria V; Vidal, Noemí N; Olivé, Montse M; Querfurth, Henry H; Muñoz, Francisco J FJ

Publication Date: 2016-03-22

Variant appearance in text: GNE: 1132G>T

PubMed Link: 26968811

Variant Present in the following documents:

• Main text
• oncotarget-07-13354.pdf
• oncotarget-07-13354-s001.pdf

View BVdb publication page

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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: IBM2: D378Y

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.

Biomarkers In Medicine

Leoyklang, Petcharat P; Malicdan, May Christine MC; Yardeni, Tal T; Celeste, Frank F; Ciccone, Carla C; Li, Xueli X; Jiang, Rong R; Gahl, William A WA; Carrillo-Carrasco, Nuria N; He, Miao M; Huizing, Marjan M

Publication Date: 2014

Variant appearance in text: GNE: D378Y

PubMed Link: 25123033

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation update for GNE gene variants associated with GNE myopathy.

Human Mutation

Celeste, Frank V FV; Vilboux, Thierry T; Ciccone, Carla C; de Dios, John Karl JK; Malicdan, May Christine V MC; Leoyklang, Petcharat P; McKew, John C JC; Gahl, William A WA; Carrillo-Carrasco, Nuria N; Huizing, Marjan M

Publication Date: 2014-08

Variant appearance in text: GNE: D378Y

PubMed Link: 24796702

Variant Present in the following documents:

• Main text

View BVdb publication page

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Two recurrent mutations are associated with GNE myopathy in the North of Britain.

Journal Of Neurology, Neurosurgery, And Psychiatry

Chaouch, Amina A; Brennan, Kathryn M KM; Hudson, Judith J; Longman, Cheryl C; McConville, John J; Morrison, Patrick J PJ; Farrugia, Maria E ME; Petty, Richard R; Stewart, Willie W; Norwood, Fiona F; Horvath, Rita R; Chinnery, Patrick F PF; Costigan, Donald D; Winer, John J; Polvikoski, Tuomo T; Healy, Estelle E; Sarkozy, Anna A; Evangelista, Teresinha T; Pogoryelova, Oksana O; Eagle, Michelle M; Bushby, Kate K; Straub, Volker V; Lochmüller, Hanns H

Publication Date: 2014-12

Variant appearance in text: GNE: 1132G>T

PubMed Link: 24695763

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex.

Human Gene Therapy

Nemunaitis, Gregory G; Jay, Chris M CM; Maples, Phillip B PB; Gahl, William A WA; Huizing, Marjan M; Yardeni, Tal T; Tong, Alex W AW; Phadke, Anagha P AP; Pappen, Beena O BO; Bedell, Cynthia C; Allen, Henry H; Hernandez, Cathy C; Templeton, Nancy S NS; Kuhn, Joseph J; Senzer, Neil N; Nemunaitis, John J

Publication Date: 2011-11

Variant appearance in text: GNE: 1132G>T; D378Y

PubMed Link: 21517694

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hereditary inclusion body myopathy: a decade of progress.

Biochimica Et Biophysica Acta

Huizing, Marjan M; Krasnewich, Donna M DM

Publication Date: 2009-09

Variant appearance in text: GNE: D378Y

PubMed Link: 19596068

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins.

The American Journal Of Pathology

Tajima, Youichi Y; Uyama, Eiichiro E; Go, Shinji S; Sato, Chihiro C; Tao, Nodoka N; Kotani, Masaharu M; Hino, Hirotake H; Suzuki, Akemi A; Sanai, Yutaka Y; Kitajima, Ken K; Sakuraba, Hitoshi H

Publication Date: 2005-04

Variant appearance in text: GNE: D378Y

PubMed Link: 15793292

Variant Present in the following documents:

• Main text

View BVdb publication page

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