Publications:

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Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg

van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG

Publication Date: 2021-10-25

Variant appearance in text: FH: 1210G>T; Glu404*

PubMed Link: 34697415

Variant Present in the following documents:

• 41431_2021_964_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg

van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG

Publication Date: 2022-02

Variant appearance in text: FH: 1210G>T; Glu404*

PubMed Link: 34697415

Variant Present in the following documents:

• 41431_2021_964_MOESM3_ESM.xlsx, sheet 1

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: FH: 1210G>T; Glu404Ter; rs797044974

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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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: 1210G>T; Glu404Ter; rs797044974

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
• 41379_2020_596_MOESM3_ESM.pdf
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.

Familial Cancer

Hol, J A JA; Jongmans, M C J MCJ; Littooij, A S AS; de Krijger, R R RR; Kuiper, R P RP; van Harssel, J J T JJT; Mensenkamp, A A; Simons, M M; Tytgat, G A M GAM; van den Heuvel-Eibrink, M M MM; van Grotel, M M

Publication Date: 2020-01

Variant appearance in text: FH: 1210G>T; Glu404*

PubMed Link: 31792767

Variant Present in the following documents:

• Main text
• 10689_2019_Article_155.pdf

View BVdb publication page

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The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & Cell

Anderson, Nicole M NM; Mucka, Patrick P; Kern, Joseph G JG; Feng, Hui H

Publication Date: 2018-02

Variant appearance in text: FH: 1210G>T

PubMed Link: 28748451

Variant Present in the following documents:

• Main text
• 13238_2017_Article_451.pdf

View BVdb publication page

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Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.

Oncotarget

Hoekstra, Attje S AS; de Graaff, Marieke A MA; Briaire-de Bruijn, Inge H IH; Ras, Cor C; Seifar, Reza Maleki RM; van Minderhout, Ivonne I; Cornelisse, Cees J CJ; Hogendoorn, Pancras C W PC; Breuning, Martijn H MH; Suijker, Johnny J; Korpershoek, Esther E; Kunst, Henricus P M HP; Frizzell, Norma N; Devilee, Peter P; Bayley, Jean-Pierre JP; Bovée, Judith V M G JV

Publication Date: 2015-11-17

Variant appearance in text: FH: 1210G>T

PubMed Link: 26472283

Variant Present in the following documents:

• oncotarget-06-38777-s002.xlsx, sheet 1

View BVdb publication page

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