Publications:

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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: PIGL: L167P; rs145303331

PubMed Link: 35115730

Variant Present in the following documents:

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

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: PIGL: L167P

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.

Orphanet Journal Of Rare Diseases

Wu, Tenghui T; Yin, Fei F; Guang, Shiqi S; He, Fang F; Yang, Li L; Peng, Jing J

Publication Date: 2020-05-28

Variant appearance in text: PIGL: 500T>C

PubMed Link: 32466763

Variant Present in the following documents:

• 13023_2020_1401_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.

Molecular Genetics & Genomic Medicine

Baratang, Nissan Vida NV; Jimenez Cruz, Daniel Alexander DA; Ajeawung, Norbert Fonya NF; Nguyen, Thi Tuyet Mai TTM; Pacheco-Cuéllar, Guillermo G; Campeau, Philippe M PM

Publication Date: 2019-07

Variant appearance in text: PIGL: 500T>C

PubMed Link: 31127708

Variant Present in the following documents:

• MGG3-7-e00743.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: PIGL: L167P; rs145303331

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Scientific Reports

Tang, Dave D; Fakiola, Michaela M; Syn, Genevieve G; Anderson, Denise D; Cordell, Heather J HJ; Scaman, Elizabeth S H ESH; Davis, Elizabeth E; Miles, Simon J SJ; McLeay, Toby T; Jamieson, Sarra E SE; Lassmann, Timo T; Blackwell, Jenefer M JM

Publication Date: 2018-07-19

Variant appearance in text: PIGL: 500T>C; Leu167Pro; rs145303331

PubMed Link: 30026549

Variant Present in the following documents:

• 41598_2018_29279_MOESM1_ESM.pdf

View BVdb publication page

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Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

Genetics And Molecular Biology

Ceroni, José Rm JR; Yamamoto, Guilherme L GL; Honjo, Rachel S RS; Kim, Chong A CA; Passos-Bueno, Maria R MR; Bertola, Débora R DR

Publication Date: 2018

Variant appearance in text: PIGL: 500T>C; Leu167Pro

PubMed Link: 29473937

Variant Present in the following documents:

• Main text
• 1415-4757-gmb-1678-4685-GMB-2017-0172.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PIGL: 500T>C; Leu167Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: PIGL: L167P; rs145303331

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8
• srep46105-s2.xls, sheet 6

View BVdb publication page

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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: PIGL: L167P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Screening for stress-resistance mutations in the mouse.

Frontiers In Genetics

Chick, Wallace S WS; Ludwig, Michael M; Zhao, Xiaoyun X; Kitzenberg, David D; Williams, Kristina K; Johnson, Thomas E TE

Publication Date: 2014

Variant appearance in text: PIGL: Leu167Pro

PubMed Link: 25250048

Variant Present in the following documents:

• Main text

View BVdb publication page

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Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.

Plos Genetics

Murakami, Yoshiko Y; Tawamie, Hasan H; Maeda, Yusuke Y; Büttner, Christian C; Buchert, Rebecca R; Radwan, Farah F; Schaffer, Stefanie S; Sticht, Heinrich H; Aigner, Michael M; Reis, André A; Kinoshita, Taroh T; Jamra, Rami Abou RA

Publication Date: 2014-05

Variant appearance in text: PIGL: Leu167Pro

PubMed Link: 24784135

Variant Present in the following documents:

• Main text
• pgen.1004320.pdf

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: PIGL: L167P

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.

American Journal Of Human Genetics

Hansen, Lars L; Tawamie, Hasan H; Murakami, Yoshiko Y; Mang, Yuan Y; ur Rehman, Shoaib S; Buchert, Rebecca R; Schaffer, Stefanie S; Muhammad, Safia S; Bak, Mads M; Nöthen, Markus M MM; Bennett, Eric P EP; Maeda, Yusuke Y; Aigner, Michael M; Reis, André A; Kinoshita, Taroh T; Tommerup, Niels N; Baig, Shahid Mahmood SM; Abou Jamra, Rami R

Publication Date: 2013-04-04

Variant appearance in text: PIGL: Leu167Pro

PubMed Link: 23561846

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

American Journal Of Human Genetics

Ng, Bobby G BG; Hackmann, Karl K; Jones, Melanie A MA; Eroshkin, Alexey M AM; He, Ping P; Wiliams, Roy R; Bhide, Shruti S; Cantagrel, Vincent V; Gleeson, Joseph G JG; Paller, Amy S AS; Schnur, Rhonda E RE; Tinschert, Sigrid S; Zunich, Janice J; Hegde, Madhuri R MR; Freeze, Hudson H HH

Publication Date: 2012-04-06

Variant appearance in text: PIGL: 500T>C; Leu167Pro

PubMed Link: 22444671

Variant Present in the following documents:

• Main text

View BVdb publication page

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