Publications:

Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.

Genes

Barretta, Ferdinando F; Uomo, Fabiana F; Fecarotta, Simona S; Albano, Lucia L; Crisci, Daniela D; Verde, Alessandra A; Fisco, Maria Grazia MG; Gallo, Giovanna G; Dottore Stagna, Daniela D; Pricolo, Maria Rosaria MR; Alagia, Marianna M; Terrone, Gaetano G; Rossi, Alessandro A; Parenti, Giancarlo G; Ruoppolo, Margherita M; Mazzaccara, Cristina C; Frisso, Giulia G

Publication Date: 2023-04-26

Variant appearance in text: MTHFR: 1683G>A; Trp561Ter

PubMed Link: 37239340

Variant Present in the following documents:

• genes-14-00980.pdf

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Shifting landscapes of human MTHFR missense-variant effects.

American Journal Of Human Genetics

Weile, Jochen J; Kishore, Nishka N; Sun, Song S; Maaieh, Ranim R; Verby, Marta M; Li, Roujia R; Fotiadou, Iosifina I; Kitaygorodsky, Julia J; Wu, Yingzhou Y; Holenstein, Alexander A; Bürer, Céline C; Blomgren, Linnea L; Yang, Shan S; Nussbaum, Robert R; Rozen, Rima R; Watkins, David D; Gebbia, Marinella M; Kozich, Viktor V; Garton, Michael M; Froese, D Sean DS; Roth, Frederick P FP

Publication Date: 2021-07-01

Variant appearance in text: MTHFR: 1683G>A; Trp561Ter

PubMed Link: 34214447

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.

Frontiers In Neurology

Massadeh, Salam S; Umair, Muhammad M; Alaamery, Manal M; Alfadhel, Majid M

Publication Date: 2019

Variant appearance in text: MTHFR: 1683G>A; Trp561*

PubMed Link: 31068897

Variant Present in the following documents:

• Main text
• fneur-10-00411.pdf

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Whole exome sequencing identifies novel predisposing genes in neural tube defects.

Molecular Genetics & Genomic Medicine

Lemay, Philippe P; De Marco, Patrizia P; Traverso, Monica M; Merello, Elisa E; Dionne-Laporte, Alexandre A; Spiegelman, Dan D; Henrion, Édouard É; Diallo, Ousmane O; Audibert, François F; Michaud, Jacques L JL; Cama, Armando A; Rouleau, Guy A GA; Kibar, Zoha Z; Capra, Valeria V

Publication Date: 2019-01

Variant appearance in text: MTHFR: 1683G>A; Trp561Ter

PubMed Link: 30415495

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

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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: MTHFR: W561X

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 7

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