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: PCCB: R113X; rs186031457

PubMed Link: 35115730

Variant Present in the following documents:

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

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: PCCB: 337C>T; R113*

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: PCCB: R113*

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Dietary management and growth outcomes in children with propionic acidemia: A natural history study.

Jimd Reports

Saleemani, Haneen H; Egri, Csilla C; Horvath, Gabriella G; Stockler-Ipsiroglu, Sylvia S; Elango, Rajavel R

Publication Date: 2021-09

Variant appearance in text: PCCB: 337C>T; Arg113X

PubMed Link: 34485020

Variant Present in the following documents:

• Main text

View BVdb publication page

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Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)

Michorowska, Sylwia S

Publication Date: 2021-08-09

Variant appearance in text: PCCB: R113X

PubMed Link: 34451881

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00785.pdf

View BVdb publication page

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Long term follow-up of the dietary intake in propionic acidemia.

Molecular Genetics And Metabolism Reports

Mobarak, A A; Stockler, S S; Salvarinova, R R; Van Karnebeek, C C; Horvath, G G

Publication Date: 2021-06

Variant appearance in text: PCCB: 337C>T; Arg113Ter

PubMed Link: 33981581

Variant Present in the following documents:

• Main text

View BVdb publication page

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SARS-CoV-2 infection in a patient with propionic acidemia.

Orphanet Journal Of Rare Diseases

Caciotti, Anna A; Procopio, Elena E; Pochiero, Francesca F; Falliano, Silvia S; Indolfi, Giuseppe G; Donati, Maria Alice MA; Ferri, Lorenzo L; Guerrini, Renzo R; Morrone, Amelia A

Publication Date: 2020-10-28

Variant appearance in text: PCCB: Arg113*

PubMed Link: 33115512

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1563.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PCCB: 337C>T; Arg113*; rs186031457

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Journal Of Inherited Metabolic Disease

Haijes, Hanneke A HA; Molema, Femke F; Langeveld, Mirjam M; Janssen, Mirian C MC; Bosch, Annet M AM; van Spronsen, Francjan F; Mulder, Margot F MF; Verhoeven-Duif, Nanda M NM; Jans, Judith J M JJM; van der Ploeg, Ans T AT; Wagenmakers, Margreet A MA; Rubio-Gozalbo, M Estela ME; Brouwers, Martijn C G J MCGJ; de Vries, Maaike C MC; Langendonk, Janneke G JG; Williams, Monique M; van Hasselt, Peter M PM

Publication Date: 2020-05

Variant appearance in text: PCCB: 337C>T; Arg113*

PubMed Link: 31828787

Variant Present in the following documents:

• JIMD-43-424-s001.pdf

View BVdb publication page

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Chronic kidney disease in propionic acidemia.

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

Shchelochkov, Oleg A OA; Manoli, Irini I; Sloan, Jennifer L JL; Ferry, Susan S; Pass, Alexandra A; Van Ryzin, Carol C; Myles, Jennifer J; Schoenfeld, Megan M; McGuire, Peter P; Rosing, Douglas R DR; Levin, Mark D MD; Kopp, Jeffrey B JB; Venditti, Charles P CP

Publication Date: 2019-12

Variant appearance in text: PCCB: 337C>T; Arg113Ter

PubMed Link: 31249402

Variant Present in the following documents:

• Main text
• nihms-1536028.pdf

View BVdb publication page

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Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.

Molecular Genetics And Metabolism Reports

Al-Hamed, Mohamed H MH; Imtiaz, Faiqa F; Al-Hassnan, Zuhair Z; Al-Owain, Mohammed M; Al-Zaidan, Hamad H; Alamoudi, Mohamed S MS; Faqeih, Eissa E; Alfadhel, Majid M; Al-Asmari, Ali A; Saleh, M M MM; Almutairi, Fuad F; Moghrabi, Nabil N; AlSayed, Moeenaldeen M

Publication Date: 2019-03

Variant appearance in text: PCCB: Arg113*

PubMed Link: 30705822

Variant Present in the following documents:

• Main text
• main.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: PCCB: R113X; rs186031457

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: PCCB: R113X

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: PCCB: R113*

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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