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: ERCC2: Q452X; rs199643821

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

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Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum.

Intractable & Rare Diseases Research

Yuniati, Renni R; Sihombing, Nydia Rena Benita NRB; Nauphar, Donny D; Tiawarman, Budi B; Kartikasari, Diah Shinta DS; Dewi, Meira M; Faradz, Sultana Mh SM

Publication Date: 2021-05

Variant appearance in text: ERCC2: 1354C>T

PubMed Link: 33996357

Variant Present in the following documents:

• Main text

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A novel nonsense mutation of ERCC2 in a Vietnamese family with xeroderma pigmentosum syndrome group D.

Human Genome Variation

Bui, Chi-Bao CB; Duong, Thao Thi Phuong TTP; Tran, Vien The VT; Pham, Thuy Thanh T TTT; Vu, Tung T; Chau, Gia Cac GC; Vo, Thanh-Niem Van TV; Nguyen, Vinh V; Trinh, Dieu-Thuong Thi DT; Hoang, Minh Van MV

Publication Date: 2020

Variant appearance in text: XPD: Q452X

PubMed Link: 32047639

Variant Present in the following documents:

• Main text
• 41439_2020_Article_89.pdf

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Mutation Profiling of Premalignant Colorectal Neoplasia.

Gastroenterology Research And Practice

Karczmarski, Jakub J; Goryca, Krzysztof K; Pachlewski, Jacek J; Dabrowska, Michalina M; Pysniak, Kazimiera K; Paziewska, Agnieszka A; Kulecka, Maria M; Lenarcik, Malgorzata M; Mroz, Andrzej A; Mikula, Michal M; Ostrowski, Jerzy J

Publication Date: 2019

Variant appearance in text: ERCC2: Q452X; rs199643821

PubMed Link: 31781186

Variant Present in the following documents:

• 2542640.f1.xlsx, sheet 1

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High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.

Npj Genomic Medicine

Bertelsen, Birgitte B; Tuxen, Ida Viller IV; Yde, Christina Westmose CW; Gabrielaite, Migle M; Torp, Mathias Husted MH; Kinalis, Savvas S; Oestrup, Olga O; Rohrberg, Kristoffer K; Spangaard, Iben I; Santoni-Rugiu, Eric E; Wadt, Karin K; Mau-Sorensen, Morten M; Lassen, Ulrik U; Nielsen, Finn Cilius FC

Publication Date: 2019

Variant appearance in text: ERCC2: 1354C>T; Gln452Ter

PubMed Link: 31263571

Variant Present in the following documents:

• 41525_2019_87_MOESM1_ESM.pdf

View BVdb publication page

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: ERCC2: Q452X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 8

View BVdb publication page

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ARCH domain of XPD, an anchoring platform for CAK that conditions TFIIH DNA repair and transcription activities.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Abdulrahman, Wassim W; Iltis, Izarn I; Radu, Laura L; Braun, Cathy C; Maglott-Roth, Anne A; Giraudon, Christophe C; Egly, Jean-Marc JM; Poterszman, Arnaud A

Publication Date: 2013-02-19

Variant appearance in text: XPD: Q452X

PubMed Link: 23382212

Variant Present in the following documents:

• Main text

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Disease-causing missense mutations in human DNA helicase disorders.

Mutation Research

Suhasini, Avvaru N AN; Brosh, Robert M RM

Publication Date: 2013

Variant appearance in text: XPD: Q452X

PubMed Link: 23276657

Variant Present in the following documents:

• Main text

View BVdb publication page

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Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

European Journal Of Human Genetics : Ejhg

Zhou, Xiaolong X; Khan, Sikandar G SG; Tamura, Deborah D; Ueda, Takahiro T; Boyle, Jennifer J; Compe, Emmanuel E; Egly, Jean-Marc JM; DiGiovanna, John J JJ; Kraemer, Kenneth H KH

Publication Date: 2013-08

Variant appearance in text: XPD: 1354C>T

PubMed Link: 23232694

Variant Present in the following documents:

• Main text

View BVdb publication page

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Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.

The Journal Of Experimental Medicine

Ueda, Takahiro T; Compe, Emmanuel E; Catez, Philippe P; Kraemer, Kenneth H KH; Egly, Jean-Marc JM

Publication Date: 2009-12-21

Variant appearance in text: XPD: Q452X

PubMed Link: 19934020

Variant Present in the following documents:

• Main text
• JEM_20091892.pdf

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