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: PEX1: 2916delA; rs61750426

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review.

Translational Pediatrics

Lu, Pei P; Ma, Li L; Sun, Jingjing J; Gong, Xiaohui X; Cai, Cheng C

Publication Date: 2021-02

Variant appearance in text: PEX1: 2916delA

PubMed Link: 33708531

Variant Present in the following documents:

• Main text
• tp-10-02-446.pdf

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Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics

Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P

Publication Date: 2019

Variant appearance in text: PEX1: 2916delA; Gly973Alafs

PubMed Link: 31832098

Variant Present in the following documents:

• 13039_2019_459_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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iPSC-Derived Hepatocytes as a Platform for Disease Modeling and Drug Discovery.

Frontiers In Medicine

Corbett, James L JL; Duncan, Stephen A SA

Publication Date: 2019

Variant appearance in text: PEX1: 2916delA; G973fs

PubMed Link: 31803747

Variant Present in the following documents:

• Main text
• fmed-06-00265.pdf

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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: PEX1: 2916delA; rs61750426

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.

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

Wangler, Michael F MF; Hubert, Leroy L; Donti, Taraka R TR; Ventura, Meredith J MJ; Miller, Marcus J MJ; Braverman, Nancy N; Gawron, Kelly K; Bose, Mousumi M; Moser, Ann B AB; Jones, Richard O RO; Rizzo, William B WB; Sutton, V Reid VR; Sun, Qin Q; Kennedy, Adam D AD; Elsea, Sarah H SH

Publication Date: 2018-10

Variant appearance in text: PEX1: 2916delA; G973fs

PubMed Link: 29419819

Variant Present in the following documents:

• Main text

View BVdb publication page

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Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.

Stem Cell Research & Therapy

Wang, Xiao-Ming XM; Yik, Wing Yan WY; Zhang, Peilin P; Lu, Wange W; Huang, Ning N; Kim, Bo Ram BR; Shibata, Darryl D; Zitting, Madison M; Chow, Robert H RH; Moser, Ann B AB; Steinberg, Steven J SJ; Hacia, Joseph G JG

Publication Date: 2015-08-29

Variant appearance in text: PEX1: 2916delA; G973fs

PubMed Link: 26319495

Variant Present in the following documents:

• Main text
• 13287_2015_Article_149.pdf
• 13287_2015_149_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

Bmc Medical Genetics

Thoms, Sven S; Grønborg, Sabine S; Rabenau, Jana J; Ohlenbusch, Andreas A; Rosewich, Hendrik H; Gärtner, Jutta J

Publication Date: 2011-08-16

Variant appearance in text: PEX1: 2916delA; Gly973AlafsX16

PubMed Link: 21846392

Variant Present in the following documents:

• Main text
• 1471-2350-12-109.pdf

View BVdb publication page

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Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Human Mutation

Yik, Wing Yan WY; Steinberg, Steven J SJ; Moser, Ann B AB; Moser, Hugo W HW; Hacia, Joseph G JG

Publication Date: 2009-03

Variant appearance in text: PEX1: 2916delA; G973fs

PubMed Link: 19105186

Variant Present in the following documents:

• Main text

View BVdb publication page

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