Publications:

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Analysis of the genotype-phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review.

Frontiers In Neurology

Liu, Xingmiao X; Liu, Xinquan X; Fan, Wenxuan W; Zhang, Zhongbin Z; Zhang, Peiyuan P; Liu, Xiaojun X; Lei, Meifang M; Li, Qing Q; Yu, Xiaoli X; Li, Dong D

Publication Date: 2022

Variant appearance in text: IVD: 941C>T; Ala314Val

PubMed Link: 35968299

Variant Present in the following documents:

• Main text
• fneur-13-928334.pdf

View BVdb publication page

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Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.

Frontiers In Genetics

Wilhelm, Kevin K; Edick, Mathew J MJ; Berry, Susan A SA; Hartnett, Michael M; Brower, Amy A

Publication Date: 2022

Variant appearance in text: IVD: 941C>T; Ala314Val

PubMed Link: 35692825

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 6

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: IVD: 941C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: IVD: 941C>T; Ala314Val; rs28940889

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 3
• mmc5.xlsx, sheet 1

View BVdb publication page

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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: IVD: A314V; rs28940889

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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: IVD: A314V

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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Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.

International Journal Of Neonatal Screening

Lund, Allan Meldgaard AM; Wibrand, Flemming F; Skogstrand, Kristin K; Bækvad-Hansen, Marie M; Gregersen, Niels N; Andresen, Brage Storstein BS; Hougaard, David M DM; Dunø, Morten M; Olsen, Rikke Katrine Jentoft RKJ

Publication Date: 2021-07-26

Variant appearance in text: IVD: 941C>T

PubMed Link: 34449524

Variant Present in the following documents:

• Main text
• IJNS-07-00050.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: IVD: 941C>T; Ala314Val; rs28940889

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.

International Journal Of Neonatal Screening

Tangeraas, Trine T; Sæves, Ingjerd I; Klingenberg, Claus C; Jørgensen, Jens J; Kristensen, Erle E; Gunnarsdottir, Gunnþórunn G; Hansen, Eirik Vangsøy EV; Strand, Janne J; Lundman, Emma E; Ferdinandusse, Sacha S; Salvador, Cathrin Lytomt CL; Woldseth, Berit B; Bliksrud, Yngve T YT; Sagredo, Carlos C; Olsen, Øyvind E ØE; Berge, Mona C MC; Trømborg, Anette Kjoshagen AK; Ziegler, Anders A; Zhang, Jin Hui JH; Sørgjerd, Linda Karlsen LK; Ytre-Arne, Mari M; Hogner, Silje S; Løvoll, Siv M SM; Kløvstad Olavsen, Mette R MR; Navarrete, Dionne D; Gaup, Hege J HJ; Lilje, Rina R; Zetterström, Rolf H RH; Stray-Pedersen, Asbjørg A; Rootwelt, Terje T; Rinaldo, Piero P; Rowe, Alexander D AD; Pettersen, Rolf D RD

Publication Date: 2020-09

Variant appearance in text: IVD: 941C>T; Ala314Val

PubMed Link: 33123633

Variant Present in the following documents:

• IJNS-06-00051.pdf

View BVdb publication page

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Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.

Diagnostics (Basel, Switzerland)

Szymańska, Edyta E; Jezela-Stanek, Aleksandra A; Bogdańska, Anna A; Rokicki, Dariusz D; Ehmke Vel Emczyńska-Seliga, Ewa E; Pajdowska, Magdalena M; Ciara, Elżbieta E; Tylki-Szymańska, Anna A

Publication Date: 2020-09-23

Variant appearance in text: IVD: 941C>T; Ala314Val

PubMed Link: 32977617

Variant Present in the following documents:

• Main text
• diagnostics-10-00738.pdf

View BVdb publication page

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Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

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

Kaseniit, Kristjan E KE; Haque, Imran S IS; Goldberg, James D JD; Shulman, Lee P LP; Muzzey, Dale D

Publication Date: 2020-10

Variant appearance in text: IVD: 941C>T; A314V

PubMed Link: 32595206

Variant Present in the following documents:

• 41436_2020_869_MOESM1_ESM.pdf

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: IVD: 941C>T; A314V

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 3
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
• 41467_2020_16067_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: IVD: 941C>T; Ala314Val

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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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: IVD: 941C>T; Ala314Val; rs28940889

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Hyperammonemia after capecitabine associated with occult impairment of the urea cycle.

Cancer Medicine

Chu, Gilbert G; Salzman, Julia J

Publication Date: 2019-05

Variant appearance in text: rs28940889

PubMed Link: 30977266

Variant Present in the following documents:

• CAM4-8-1996-s001.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: IVD: A314V; rs28940889

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: IVD: 941C>T; Ala314Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Angelman syndrome and isovaleric acidemia: What is the link?

Molecular Genetics And Metabolism Reports

Lambrecht, Alix A; Pichard, Samia S; Maurey, Hélène H; Segarra, Nuria Garcia NG; Drunat, Séverine S; Acquaviva-Bourdain, Cécile C; Passemard, Sandrine S; Benoist, Jean-François JF; Fauret-Amsellem, Anne-Laure AL; Schiff, Manuel M

Publication Date: 2015-06

Variant appearance in text: IVD: 941C>T; Ala314Val

PubMed Link: 26937393

Variant Present in the following documents:

• Main text
• main.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: rs28940889

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: IVD: A314V; rs28940889

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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