Publications:

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: FH: 575C>T

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Simultaneous Multiplex Genome Engineering via Accelerated Natural Transformation in Bacillus subtilis.

Frontiers In Microbiology

Deng, Aihua A; Sun, Zhaopeng Z; Wang, Tiantian T; Cui, Di D; Li, Lai L; Liu, Shuwen S; Huang, Fei F; Wen, Tingyi T

Publication Date: 2021

Variant appearance in text: FH: P192L

PubMed Link: 34484154

Variant Present in the following documents:

• Main text

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Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.

Cancers

Sánchez-Heras, A Beatriz AB; Castillejo, Adela A; García-Díaz, Juan D JD; Robledo, Mercedes M; Teulé, Alexandre A; Sánchez, Rosario R; Zúñiga, Ángel Á; Lastra, Enrique E; Durán, Mercedes M; Llort, Gemma G; Yagüe, Carmen C; Ramon Y Cajal, Teresa T; López San Martin, Consol C; López-Fernández, Adrià A; Balmaña, Judith J; Robles, Luis L; Mesa-Latorre, José M JM; Chirivella, Isabel I; Fonfria, María M; Perea Ibañez, Raquel R; Castillejo, M Isabel MI; Escandell, Inés I; Gomez, Luis L; Berbel, Pere P; Soto, Jose Luis JL

Publication Date: 2020-11-05

Variant appearance in text: FH: 575C>T

PubMed Link: 33167498

Variant Present in the following documents:

• Main text

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Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.

Endocrine Connections

Cardot Bauters, Catherine C; Leteurtre, Emmanuelle E; Carnaille, Bruno B; Do Cao, Christine C; Espiard, Stéphanie S; Penven, Malo M; Destailleur, Evelyne E; Szuster, Isabelle I; Lovecchio, Tonio T; Leclerc, Julie J; Frénois, Fredéric F; Esquivel, Emmanuel E; Dahia, Patricia L M PLM; Ait-Yahya, Emilie E; Crépin, Michel M; Pigny, Pascal P

Publication Date: 2020-10

Variant appearance in text: FH: 575C>T; P192L

PubMed Link: 33112832

Variant Present in the following documents:

• Main text
• EC-20-0460.pdf

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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 575C>T; Pro192Leu

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5

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Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Scientifica

Chaturvedi, Swati S; Singh, Ashok K AK; Keshari, Amit K AK; Maity, Siddhartha S; Sarkar, Srimanta S; Saha, Sudipta S

Publication Date: 2016

Variant appearance in text: FH: 575C>T

PubMed Link: 27051561

Variant Present in the following documents:

• Main text
• SCIENTIFICA2016-9828672.pdf

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Structural basis of fumarate hydratase deficiency.

Journal Of Inherited Metabolic Disease

Picaud, Sarah S; Kavanagh, Kathryn L KL; Yue, Wyatt W WW; Lee, Wen Hwa WH; Muller-Knapp, Susanne S; Gileadi, Opher O; Sacchettini, James J; Oppermann, Udo U

Publication Date: 2011-06

Variant appearance in text: FH: P192L

PubMed Link: 21445611

Variant Present in the following documents:

• Main text
• 10545_2011_Article_9294.pdf

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The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

Bmc Medical Genetics

Bayley, Jean-Pierre JP; Launonen, Virpi V; Tomlinson, Ian P M IP

Publication Date: 2008-03-25

Variant appearance in text: FH: Pro192Leu

PubMed Link: 18366737

Variant Present in the following documents:

• 1471-2350-9-20.pdf

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