Publications:

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: rs397515518

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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High-frequency actionable pathogenic exome variants in an average-risk cohort.

Cold Spring Harbor Molecular Case Studies

Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP

Publication Date: 2018-12

Variant appearance in text: HGD: 342+1G>A

PubMed Link: 30487145

Variant Present in the following documents:

• supp_mcs.a003178_Supplemental_File_1.xlsx, sheet 1

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Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

European Journal Of Human Genetics : Ejhg

Nemethova, Martina M; Radvanszky, Jan J; Kadasi, Ludevit L; Ascher, David B DB; Pires, Douglas E V DE; Blundell, Tom L TL; Porfirio, Berardino B; Mannoni, Alessandro A; Santucci, Annalisa A; Milucci, Lia L; Sestini, Silvia S; Biolcati, Gianfranco G; Sorge, Fiammetta F; Aurizi, Caterina C; Aquaron, Robert R; Alsbou, Mohammed M; Lourenço, Charles Marques CM; Ramadevi, Kanakasabapathi K; Ranganath, Lakshminarayan R LR; Gallagher, James A JA; van Kan, Christa C; Hall, Anthony K AK; Olsson, Birgitta B; Sireau, Nicolas N; Ayoob, Hana H; Timmis, Oliver G OG; Sang, Kim-Hanh Le Quan KH; Genovese, Federica F; Imrich, Richard R; Rovensky, Jozef J; Srinivasaraghavan, Rangan R; Bharadwaj, Shruthi K SK; Spiegel, Ronen R; Zatkova, Andrea A

Publication Date: 2016-01

Variant appearance in text: AKU: 342+1G>A

PubMed Link: 25804398

Variant Present in the following documents:

• Main text

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Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Jimd Reports

Zatkova, Andrea A; Sedlackova, Tatiana T; Radvansky, Jan J; Polakova, Helena H; Nemethova, Martina M; Aquaron, Robert R; Dursun, Ismail I; Usher, Jeannette L JL; Kadasi, Ludevit L

Publication Date: 2012

Variant appearance in text: AKU: 342+1G>A

PubMed Link: 23430897

Variant Present in the following documents:

• Main text

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Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

Human Mutation

Vilboux, Thierry T; Kayser, Michael M; Introne, Wendy W; Suwannarat, Pim P; Bernardini, Isa I; Fischer, Roxanne R; O'Brien, Kevin K; Kleta, Robert R; Huizing, Marjan M; Gahl, William A WA

Publication Date: 2009-12

Variant appearance in text: HGD: 342+1G>A

PubMed Link: 19862842

Variant Present in the following documents:

• Main text

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