Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: FH: V140I; rs746195750

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Implementation of Novel Lipid Therapies in a Refractory Heterozygous Familial Hypercholesterolemia Patient With Atherosclerotic Disease.

Jacc. Case Reports

Weintraub, Spencer F SF; Schillow, Jessica A JA; Azari, Bani M BM; Hirsh, Benjamin J BJ

Publication Date: 2022-10-19

Variant appearance in text: FH: 418G>A

PubMed Link: 36299643

Variant Present in the following documents:

• Main text
• main.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: 418G>A; Val140Ile; rs746195750

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
• 41379_2020_596_MOESM2_ESM.xlsx, sheet 3

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Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method.

Practical Laboratory Medicine

Tada, Hayato H; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Inazu, Akihiro A; Mabuchi, Hiroshi H; Yamagishi, Masakazu M; Hayashi, Kenshi K

Publication Date: 2015-04-01

Variant appearance in text: FH: 418G>A

PubMed Link: 28932795

Variant Present in the following documents:

• Main text

View BVdb publication page