Publications:

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Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Medrxiv : The Preprint Server For Health Sciences

Han, Seunghun S; Camp, Sabrina Y SY; Chu, Hoyin H; Collins, Ryan R; Gillani, Riaz R; Park, Jihye J; Bakouny, Ziad Z; Ricker, Cora A CA; Reardon, Brendan B; Moore, Nicholas N; Kofman, Eric E; Labaki, Chris C; Braun, David D; Choueiri, Toni K TK; AlDubayan, Saud H SH; Van Allen, Eliezer M EM

Publication Date: 2023-01-19

Variant appearance in text: FAH: 1062+5G>A; rs80338901

PubMed Link: 36712083

Variant Present in the following documents:

• media-1.xlsx, sheet 5

View BVdb publication page

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BNT162b2 COVID-19 vaccination elicited protective robust immune responses in pediatric patients with inborn errors of metabolism.

Frontiers In Immunology

Zubarioglu, Tanyel T; Dinc, Harika Oyku HO; Hopurcuoglu, Duhan D; Gulmez, Ruveyda R; Uygur, Esma E; Yilmaz, Gizem G; Ahmadzada, Saffa S; Uzunyayla-Inci, Gozde G; Oge-Enver, Ece E; Kiykim, Ertugrul E; Kocazeybek, Bekir B; Aktuglu-Zeybek, Cigdem C

Publication Date: 2022

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 36685561

Variant Present in the following documents:

• fimmu-13-1082192.pdf

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Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1.

Bmc Medical Genomics

Chen, Jiao J; Sun, Junhui J; Li, Xuefang X; Du, Mengmeng M

Publication Date: 2022-12-03

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 36463171

Variant Present in the following documents:

• Main text
• 12920_2022_Article_1406.pdf

View BVdb publication page

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The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).

Molecular Genetics & Genomic Medicine

Chi, Huan H; Gan, Chun C; Jiang, Yaru Y; Chen, Dan D; Qiu, Jiawen J; Yang, Qing Q; Chen, Yaxi Y; Wang, Mo M; Yang, Haiping H; Jiang, Wei W; Li, Qiu Q

Publication Date: 2022-11-12

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 36369907

Variant Present in the following documents:

• Main text
• MGG3-11-e2090.pdf

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: FAH: 1062+5G>A

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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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: rs80338901

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Hereditary tyrosinemia type Ⅰ: newborn screening, diagnosis and treatment.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal Of Zhejiang University. Medical Sciences

Tang, Yue Y; Kong, Yuanyuan Y

Publication Date: 2021-08-25

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 34704422

Variant Present in the following documents:

• Main text

View BVdb publication page

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U5 snRNA Interactions With Exons Ensure Splicing Precision.

Frontiers In Genetics

Artemyeva-Isman, Olga V OV; Porter, Andrew C G ACG

Publication Date: 2021

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 34276781

Variant Present in the following documents:

• fgene-12-676971.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: FAH: 1062+5G>A; rs80338901

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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Diazoxide-responsive hyperinsulinaemic hypoglycaemia in tyrosinaemia type 1.

Endocrinology, Diabetes & Metabolism Case Reports

Sotiridou, Ellada E; Hoermann, Henrike H; Aftab, Sommayya S; Dastamani, Antonia A; Thimm, Eva E; Doodson, Louise L; Batzios, Spyros S; Kummer, Sebastian S; Shah, Pratik P

Publication Date: 2021-01-11

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 33431709

Variant Present in the following documents:

• Main text
• EDM20-0174.pdf

View BVdb publication page

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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Npj Genomic Medicine

Cheema, Huma H; Bertoli-Avella, Aida M AM; Skrahina, Volha V; Anjum, Muhammad Nadeem MN; Waheed, Nadia N; Saeed, Anjum A; Beetz, Christian C; Perez-Lopez, Jordi J; Rocha, Maria Eugenia ME; Alawbathani, Salem S; Pereira, Catarina C; Hovakimyan, Marina M; Patric, Irene Rosita Pia IRP; Paknia, Omid O; Ameziane, Najim N; Cozma, Claudia C; Bauer, Peter P; Rolfs, Arndt A

Publication Date: 2020

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 33083013

Variant Present in the following documents:

• 41525_2020_150_MOESM1_ESM.pdf

View BVdb publication page

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Base editing: a brief review and a practical example.

Journal Of Biomedical Research

Choe, Dongwook C DC; Musunuru, Kiran K

Publication Date: 2020-07-31

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 32934192

Variant Present in the following documents:

• Main text
• jbr-35-2-107.pdf

View BVdb publication page

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Innovative Therapeutic and Delivery Approaches Using Nanotechnology to Correct Splicing Defects Underlying Disease.

Frontiers In Genetics

Suñé-Pou, Marc M; Limeres, María J MJ; Moreno-Castro, Cristina C; Hernández-Munain, Cristina C; Suñé-Negre, Josep M JM; Cuestas, María L ML; Suñé, Carlos C

Publication Date: 2020

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 32760425

Variant Present in the following documents:

• fgene-11-00731.pdf

View BVdb publication page

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A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I.

International Journal Of Molecular Sciences

Balestra, Dario D; Scalet, Daniela D; Ferrarese, Mattia M; Lombardi, Silvia S; Ziliotto, Nicole N; C Croes, Chrystal C; Petersen, Naomi N; Bosma, Piter P; Riccardi, Federico F; Pagani, Franco F; Pinotti, Mirko M; van de Graaf, Stan F J SFJ

Publication Date: 2020-03-20

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 32244944

Variant Present in the following documents:

• ijms-21-02136.pdf

View BVdb publication page

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An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A.

Frontiers In Genetics

Balestra, Dario D; Maestri, Iva I; Branchini, Alessio A; Ferrarese, Mattia M; Bernardi, Francesco F; Pinotti, Mirko M

Publication Date: 2019

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 31649737

Variant Present in the following documents:

• fgene-10-00974.pdf

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: FAH: 1062+5G>A; rs80338901

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant.

Molecular Genetics & Genomic Medicine

Ibarra-González, Isabel I; Fernández-Lainez, Cynthia C; Alcántara-Ortigoza, Miguel Angel MA; González-Del Angel, Ariadna A; Fernández-Henández, Liliana L; Guillén-López, Sara S; Belmont-Martínez, Leticia L; López-Mejía, Lizbeth L; Varela-Fascinetto, Gustavo G; Vela-Amieva, Marcela M

Publication Date: 2019-12

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 31568711

Variant Present in the following documents:

• Main text

View BVdb publication page

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Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy.

International Journal Of Molecular Sciences

Balestra, Dario D; Giorgio, Domenico D; Bizzotto, Matteo M; Fazzari, Maria M; Ben Zeev, Bruria B; Pinotti, Mirko M; Landsberger, Nicoletta N; Frasca, Angelisa A

Publication Date: 2019-08-24

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 31450582

Variant Present in the following documents:

• ijms-20-04130.pdf

View BVdb publication page

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Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.

International Journal Of Molecular Sciences

Balestra, Dario D; Branchini, Alessio A

Publication Date: 2019-06-21

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 31234407

Variant Present in the following documents:

• ijms-20-03036.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Amino acid disorders.

Annals Of Translational Medicine

Aliu, Ermal E; Kanungo, Shibani S; Arnold, Georgianne L GL

Publication Date: 2018-12

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 30740402

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.

Jimd Reports

Baydakova, G V GV; Ivanova, T A TA; Mikhaylova, S V SV; Saydaeva, D Kh DK; Dzhudinova, L L LL; Akhlakova, A I AI; Gamzatova, A I AI; Bychkov, I O IO; Zakharova, E Yu EY

Publication Date: 2019

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 30414057

Variant Present in the following documents:

• Main text

View BVdb publication page

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The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.

Journal Of Human Genetics

Scalet, Daniela D; Sacchetto, Claudia C; Bernardi, Francesco F; Pinotti, Mirko M; van de Graaf, Stan F J SFJ; Balestra, Dario D

Publication Date: 2018-05

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 29497141

Variant Present in the following documents:

• Main text
• emss-76033.pdf

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: FAH: 1062+5G>A; rs80338901

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

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

Chinsky, Jeffrey M JM; Singh, Rani R; Ficicioglu, Can C; van Karnebeek, Clara D M CDM; Grompe, Markus M; Mitchell, Grant G; Waisbren, Susan E SE; Gucsavas-Calikoglu, Muge M; Wasserstein, Melissa P MP; Coakley, Katie K; Scott, C Ronald CR

Publication Date: 2017-12

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 28771246

Variant Present in the following documents:

• Main text
• gim2017101a.pdf

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: FAH: 1062+5G>A

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Clinical Genetics

Shi, L L; Webb, B D BD; Birch, A H AH; Elkhoury, L L; McCarthy, J J; Cai, X X; Oishi, K K; Mehta, L L; Diaz, G A GA; Edelmann, L L; Kornreich, R R

Publication Date: 2017-04

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 27415407

Variant Present in the following documents:

• Main text

View BVdb publication page

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Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.

Jimd Reports

Angileri, Francesca F; Bergeron, Anne A; Morrow, Geneviève G; Lettre, Francine F; Gray, George G; Hutchin, Tim T; Ball, Sarah S; Tanguay, Robert M RM

Publication Date: 2015

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 25681080

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.

Case Reports In Genetics

Sheth, Jayesh J JJ; Ankleshwaria, Chitra M CM; Pawar, Rajeshwari R; Sheth, Frenny J FJ

Publication Date: 2012

Variant appearance in text: FAH: 1062+5G>A

PubMed Link: 23193487

Variant Present in the following documents:

• Main text
• CRIM.GENETICS2012-428075.pdf

View BVdb publication page

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