Publications:

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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: APOB: V1955M; rs368970025

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: APOB: V1955M

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: APOB: 5863G>A; Val1955Met

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.

Plos One

Khlebus, Eleonora E; Kutsenko, Vladimir V; Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Shevtsov, Anton A; Shcherbakova, Natalia N; Zharikova, Anastasiia A; Lankin, Vadim V; Tikhaze, Alla A; Chazova, Irina I; Yarovaya, Elena E; Drapkina, Oksana O; Boytsov, Sergey S

Publication Date: 2019

Variant appearance in text: APOB: Val1955Met; rs368970025

PubMed Link: 31150472

Variant Present in the following documents:

• Main text
• pone.0217620.pdf

View BVdb publication page

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Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Amino Acids

Nava, Caroline C; Rupp, Johanna J; Boissel, Jean-Paul JP; Mignot, Cyril C; Rastetter, Agnès A; Amiet, Claire C; Jacquette, Aurélia A; Dupuits, Céline C; Bouteiller, Delphine D; Keren, Boris B; Ruberg, Merle M; Faudet, Anne A; Doummar, Diane D; Philippe, Anne A; Périsse, Didier D; Laurent, Claudine C; Lebrun, Nicolas N; Guillemot, Vincent V; Chelly, Jamel J; Cohen, David D; Héron, Delphine D; Brice, Alexis A; Closs, Ellen I EI; Depienne, Christel C

Publication Date: 2015-12

Variant appearance in text: APOB: V1955M

PubMed Link: 26215737

Variant Present in the following documents:

• 726_2015_2057_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of three cases of familial exceptional longevity.

Aging Cell

Cash, Timothy P TP; Pita, Guillermo G; Domínguez, Orlando O; Alonso, Maria R MR; Moreno, Leticia T LT; Borrás, Consuelo C; Rodríguez-Mañas, Leocadio L; Santiago, Catalina C; Garatachea, Nuria N; Lucia, Alejandro A; Avellana, Juan A JA; Viña, Jose J; González-Neira, Anna A; Serrano, Manuel M

Publication Date: 2014-12

Variant appearance in text: rs368970025

PubMed Link: 25116423

Variant Present in the following documents:

• acel0013-1087.pdf

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: APOB: V1955M

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s002.xlsx, sheet 1
• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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