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: WAS: E131K; rs146220228

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Long-term safety and efficacy of lentiviral hematopoietic stem/progenitor cell gene therapy for Wiskott-Aldrich syndrome.

Nature Medicine

Magnani, A A; Semeraro, M M; Adam, F F; Booth, C C; Dupré, L L; Morris, E C EC; Gabrion, A A; Roudaut, C C; Borgel, D D; Toubert, A A; Clave, E E; Abdo, C C; Gorochov, G G; Petermann, R R; Guiot, M M; Miyara, M M; Moshous, D D; Magrin, E E; Denis, A A; Suarez, F F; Lagresle, C C; Roche, A M AM; Everett, J J; Trinquand, A A; Guisset, M M; Bayford, J Xu JX; Hacein-Bey-Abina, S S; Kauskot, A A; Elfeky, R R; Rivat, C C; Abbas, S S; Gaspar, H B HB; Macintyre, E E; Picard, C C; Bushman, F D FD; Galy, A A; Fischer, A A; Six, E E; Thrasher, A J AJ; Cavazzana, M M

Publication Date: 2022-01

Variant appearance in text: WAS: 391G>A; Glu131Lys

PubMed Link: 35075289

Variant Present in the following documents:

• 41591_2021_1641_MOESM1_ESM.pdf

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Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Genes

Grossi, Alice A; Miano, Maurizio M; Lanciotti, Marina M; Fioredda, Francesca F; Guardo, Daniela D; Palmisani, Elena E; Terranova, Paola P; Santamaria, Giuseppe G; Caroli, Francesco F; Caorsi, Roberta R; Volpi, Stefano S; Gattorno, Marco M; Dufour, Carlo C; Ceccherini, Isabella I

Publication Date: 2021-08-24

Variant appearance in text: WAS: E131K

PubMed Link: 34573280

Variant Present in the following documents:

• Main text
• genes-12-01299.pdf

View BVdb publication page

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Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.

The Application Of Clinical Genetics

Sudhakar, Murugan M; Rikhi, Rashmi R; Loganathan, Sathish Kumar SK; Suri, Deepti D; Singh, Surjit S

Publication Date: 2021

Variant appearance in text: WAS: E131K

PubMed Link: 34447261

Variant Present in the following documents:

• Main text
• tacg-14-363.pdf

View BVdb publication page

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IL-18: A potential inflammation biomarker in Wiskott-Aldrich syndrome.

European Journal Of Immunology

Rivers, Elizabeth E; Hong, Ying Y; Bajaj-Elliott, Mona M; Worth, Austen A; Thrasher, Adrian J AJ

Publication Date: 2021-05

Variant appearance in text: WAS: 391G>A

PubMed Link: 33448368

Variant Present in the following documents:

• Main text
• EJI-51-1285.pdf

View BVdb publication page

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The Polygenic and Monogenic Basis of Blood Traits and Diseases.

Cell

Vuckovic, Dragana D; Bao, Erik L EL; Akbari, Parsa P; Lareau, Caleb A CA; Mousas, Abdou A; Jiang, Tao T; Chen, Ming-Huei MH; Raffield, Laura M LM; Tardaguila, Manuel M; Huffman, Jennifer E JE; Ritchie, Scott C SC; Megy, Karyn K; Ponstingl, Hannes H; Penkett, Christopher J CJ; Albers, Patrick K PK; Wigdor, Emilie M EM; Sakaue, Saori S; Moscati, Arden A; Manansala, Regina R; Lo, Ken Sin KS; Qian, Huijun H; Akiyama, Masato M; Bartz, Traci M TM; Ben-Shlomo, Yoav Y; Beswick, Andrew A; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Brody, Jennifer A JA; van Rooij, Frank J A FJA; Chitrala, Kumaraswamy N KN; Wilson, Peter W F PWF; Choquet, Hélène H; Danesh, John J; Di Angelantonio, Emanuele E; Dimou, Niki N; Ding, Jingzhong J; Elliott, Paul P; Esko, Tõnu T; Evans, Michele K MK; Felix, Stephan B SB; Floyd, James S JS; Broer, Linda L; Grarup, Niels N; Guo, Michael H MH; Guo, Qi Q; Greinacher, Andreas A; Haessler, Jeff J; Hansen, Torben T; Howson, Joanna M M JMM; Huang, Wei W; Jorgenson, Eric E; Kacprowski, Tim T; Kähönen, Mika M; Kamatani, Yoichiro Y; Kanai, Masahiro M; Karthikeyan, Savita S; Koskeridis, Fotios F; Lange, Leslie A LA; Lehtimäki, Terho T; Linneberg, Allan A; Liu, Yongmei Y; Lyytikäinen, Leo-Pekka LP; Manichaikul, Ani A; Matsuda, Koichi K; Mohlke, Karen L KL; Mononen, Nina N; Murakami, Yoshinori Y; Nadkarni, Girish N GN; Nikus, Kjell K; Pankratz, Nathan N; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Raitakari, Olli T OT; Rich, Stephen S SS; Rodriguez, Benjamin A T BAT; Rosen, Jonathan D JD; Rotter, Jerome I JI; Schubert, Petra P; Spracklen, Cassandra N CN; Surendran, Praveen P; Tang, Hua H; Tardif, Jean-Claude JC; Ghanbari, Mohsen M; Völker, Uwe U; Völzke, Henry H; Watkins, Nicholas A NA; Weiss, Stefan S; , ; Cai, Na N; Kundu, Kousik K; Watt, Stephen B SB; Walter, Klaudia K; Zonderman, Alan B AB; Cho, Kelly K; Li, Yun Y; Loos, Ruth J F RJF; Knight, Julian C JC; Georges, Michel M; Stegle, Oliver O; Evangelou, Evangelos E; Okada, Yukinori Y; Roberts, David J DJ; Inouye, Michael M; Johnson, Andrew D AD; Auer, Paul L PL; Astle, William J WJ; Reiner, Alexander P AP; Butterworth, Adam S AS; Ouwehand, Willem H WH; Lettre, Guillaume G; Sankaran, Vijay G VG; Soranzo, Nicole N

Publication Date: 2020-09-03

Variant appearance in text: WAS: Glu131Lys; rs146220228

PubMed Link: 32888494

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.

Clinical And Translational Gastroenterology

Ashton, James J JJ; Mossotto, Enrico E; Stafford, Imogen S IS; Haggarty, Rachel R; Coelho, Tracy A F TAF; Batra, Akshay A; Afzal, Nadeem A NA; Mort, Matthew M; Bunyan, David D; Beattie, Robert Mark RM; Ennis, Sarah S

Publication Date: 2020-02

Variant appearance in text: WAS: E131K

PubMed Link: 32463623

Variant Present in the following documents:

• ct9-11-e00129.pdf

View BVdb publication page

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Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.

Frontiers In Immunology

Suratannon, Narissara N; van Wijck, Rogier T A RTA; Broer, Linda L; Xue, Laixi L; van Meurs, Joyce B J JBJ; Barendregt, Barbara H BH; van der Burg, Mirjam M; Dik, Willem A WA; Chatchatee, Pantipa P; Langerak, Anton W AW; Swagemakers, Sigrid M A SMA; Goos, Jacqueline A C JAC; Mathijssen, Irene M J IMJ; Dalm, Virgil A S H VASH; Suphapeetiporn, Kanya K; Heezen, Kim C KC; Drabwell, Jose J; Uitterlinden, André G AG; van der Spek, Peter J PJ; van Hagen, P Martin PM; ,

Publication Date: 2020

Variant appearance in text: WAS: 391G>A

PubMed Link: 32373116

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

Nature Communications

Serra, Eva Gonçalves EG; Schwerd, Tobias T; Moutsianas, Loukas L; Cavounidis, Athena A; Fachal, Laura L; Pandey, Sumeet S; Kammermeier, Jochen J; Croft, Nicholas M NM; Posovszky, Carsten C; Rodrigues, Astor A; Russell, Richard K RK; Barakat, Farah F; Auth, Marcus K H MKH; Heuschkel, Robert R; Zilbauer, Matthias M; Fyderek, Krzysztof K; Braegger, Christian C; Travis, Simon P SP; Satsangi, Jack J; Parkes, Miles M; Thapar, Nikhil N; Ferry, Helen H; Matte, Julie C JC; Gilmour, Kimberly C KC; Wedrychowicz, Andrzej A; Sullivan, Peter P; Moore, Carmel C; Sambrook, Jennifer J; Ouwehand, Willem W; Roberts, David D; Danesh, John J; Baeumler, Toni A TA; Fulga, Tudor A TA; Karaminejadranjbar, Mohammad M; Ahmed, Ahmed A; Wilson, Rachel R; Barrett, Jeffrey C JC; Elkadri, Abdul A; Griffiths, Anne M AM; , ; , ; , ; , ; , ; , ; Snapper, Scott B SB; Shah, Neil N; Muise, Aleixo M AM; Wilson, David C DC; Uhlig, Holm H HH; Anderson, Carl A CA

Publication Date: 2020-02-21

Variant appearance in text: WAS: E131K

PubMed Link: 32081864

Variant Present in the following documents:

• 41467_2019_14275_MOESM1_ESM.pdf

View BVdb publication page

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Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.

Nature Communications

Serra, Eva Gonçalves EG; Schwerd, Tobias T; Moutsianas, Loukas L; Cavounidis, Athena A; Fachal, Laura L; Pandey, Sumeet S; Kammermeier, Jochen J; Croft, Nicholas M NM; Posovszky, Carsten C; Rodrigues, Astor A; Russell, Richard K RK; Barakat, Farah F; Auth, Marcus K H MKH; Heuschkel, Robert R; Zilbauer, Matthias M; Fyderek, Krzysztof K; Braegger, Christian C; Travis, Simon P SP; Satsangi, Jack J; Parkes, Miles M; Thapar, Nikhil N; Ferry, Helen H; Matte, Julie C JC; Gilmour, Kimberly C KC; Wedrychowicz, Andrzej A; Sullivan, Peter P; Moore, Carmel C; Sambrook, Jennifer J; Ouwehand, Willem W; Roberts, David D; Danesh, John J; Baeumler, Toni A TA; Fulga, Tudor A TA; Carrami, Eli M EM; Ahmed, Ahmed A; Wilson, Rachel R; Barrett, Jeffrey C JC; Elkadri, Abdul A; Griffiths, Anne M AM; , ; , ; , ; , ; , ; , ; Snapper, Scott B SB; Shah, Neil N; Muise, Aleixo M AM; Wilson, David C DC; Uhlig, Holm H HH; Anderson, Carl A CA

Publication Date: 2020-02-21

Variant appearance in text: WAS: E131K

PubMed Link: 32081864

Variant Present in the following documents:

• 41467_2019_14275_MOESM1_ESM.pdf

View BVdb publication page

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: WAS: 391G>A; E131K; rs146220228

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: WAS: 391G>A; Glu131Lys

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

View BVdb publication page

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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Plos One

Omoyinmi, Ebun E; Standing, Ariane A; Keylock, Annette A; Price-Kuehne, Fiona F; Melo Gomes, Sonia S; Rowczenio, Dorota D; Nanthapisal, Sira S; Cullup, Thomas T; Nyanhete, Rodney R; Ashton, Emma E; Murphy, Claire C; Clarke, Megan M; Ahlfors, Helena H; Jenkins, Lucy L; Gilmour, Kimberly K; Eleftheriou, Despina D; Lachmann, Helen J HJ; Hawkins, Philip N PN; Klein, Nigel N; Brogan, Paul A PA

Publication Date: 2017

Variant appearance in text: WAS: 391G>A

PubMed Link: 28750028

Variant Present in the following documents:

• Main text
• pone.0181874.pdf

View BVdb publication page

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Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.

Scientific Reports

Ostrowski, Jerzy J; Paziewska, Agnieszka A; Lazowska, Izabella I; Ambrozkiewicz, Filip F; Goryca, Krzysztof K; Kulecka, Maria M; Rawa, Tomasz T; Karczmarski, Jakub J; Dabrowska, Michalina M; Zeber-Lubecka, Natalia N; Tomecki, Roman R; Kluska, Anna A; Balabas, Aneta A; Piatkowska, Magdalena M; Paczkowska, Katarzyna K; Kierkus, Jaroslaw J; Socha, Piotr P; Lodyga, Michal M; Rydzewska, Grazyna G; Klopocka, Maria M; Mierzwa, Grazyna G; Iwanczak, Barbara B; Krzesiek, Elzbieta E; Bak-Drabik, Katarzyna K; Walkowiak, Jaroslaw J; Klincewicz, Beata B; Radwan, Piotr P; Grzybowska-Chlebowczyk, Urszula U; Landowski, Piotr P; Jankowska, Agnieszka A; Korczowski, Bartosz B; Starzynska, Teresa T; Albrecht, Piotr P; Mikula, Michal M

Publication Date: 2016-12-23

Variant appearance in text: WAS: Glu131Lys; rs146220228

PubMed Link: 28008999

Variant Present in the following documents:

• Main text
• srep39831.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: WAS: E131K; rs146220228

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: WAS: E131K; rs146220228

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Esid 2014 oral presentations.

Journal Of Clinical Immunology

Publication Date: 2014-10

Variant appearance in text: WAS: E131K; rs146220228

PubMed Link: 25344390

Variant Present in the following documents:

• Main text
• 10875_2014_Article_101.pdf

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: WAS: E131K; rs146220228

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

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: WAS: E131K

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1
• NIHMS551112-supplement-7.xlsx, sheet 1
• NIHMS551112-supplement-19.xlsx, sheet 1

View BVdb publication page

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Ubiquitylation-dependent negative regulation of WASp is essential for actin cytoskeleton dynamics.

Molecular And Cellular Biology

Reicher, Barak B; Joseph, Noah N; David, Ahuvit A; Pauker, Maor H MH; Perl, Orly O; Barda-Saad, Mira M

Publication Date: 2012-08

Variant appearance in text: WAS: E131K

PubMed Link: 22665495

Variant Present in the following documents:

• Main text

View BVdb publication page

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Three-dimensional reconstruction of protein networks provides insight into human genetic disease.

Nature Biotechnology

Wang, Xiujuan X; Wei, Xiaomu X; Thijssen, Bram B; Das, Jishnu J; Lipkin, Steven M SM; Yu, Haiyuan H

Publication Date: 2012-01-15

Variant appearance in text: WASP: E131K

PubMed Link: 22252508

Variant Present in the following documents:

• Main text

View BVdb publication page

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