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: S1613T; rs61742247

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.

Hepatology Communications

Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK

Publication Date: 2022-11

Variant appearance in text: APOB: S1613T; rs61742247

PubMed Link: 36098472

Variant Present in the following documents:

• HEP4-6-3120-s001.xlsx, sheet 6

View BVdb publication page

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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Journal Of Human Genetics

Hammarsjö, Anna A; Pettersson, Maria M; Chitayat, David D; Handa, Atsuhiko A; Anderlid, Britt-Marie BM; Bartocci, Marco M; Basel, Donald D; Batkovskyte, Dominyka D; Beleza-Meireles, Ana A; Conner, Peter P; Eisfeldt, Jesper J; Girisha, Katta M KM; Chung, Brian Hon-Yin BH; Horemuzova, Eva E; Hyodo, Hironobu H; Korņejeva, Liene L; Lagerstedt-Robinson, Kristina K; Lin, Angela E AE; Magnusson, Måns M; Moosa, Shahida S; Nayak, Shalini S SS; Nilsson, Daniel D; Ohashi, Hirofumi H; Ohashi-Fukuda, Naoko N; Stranneheim, Henrik H; Taylan, Fulya F; Traberg, Rasa R; Voss, Ulrika U; Wirta, Valtteri V; Nordgren, Ann A; Nishimura, Gen G; Lindstrand, Anna A; Grigelioniene, Giedre G

Publication Date: 2021-10

Variant appearance in text: APOB: 4838G>C; Ser1613Thr

PubMed Link: 33875766

Variant Present in the following documents:

• 10038_2021_925_MOESM3_ESM.pdf

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: 4838G>C; Ser1613Thr

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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In-depth human plasma proteome analysis captures tissue proteins and transfer of protein variants across the placenta.

Elife

Pernemalm, Maria M; Sandberg, AnnSofi A; Zhu, Yafeng Y; Boekel, Jorrit J; Tamburro, Davide D; Schwenk, Jochen M JM; Björk, Albin A; Wahren-Herlenius, Marie M; Åmark, Hanna H; Östenson, Claes-Göran CG; Westgren, Magnus M; Lehtiö, Janne J

Publication Date: 2019-04-08

Variant appearance in text: rs61742247

PubMed Link: 30958262

Variant Present in the following documents:

• elife-41608-supp9.xlsx, sheet 1

View BVdb publication page

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Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.

Atherosclerosis

Nikkola, Elina E; Ko, Arthur A; Alvarez, Marcus M; Cantor, Rita M RM; Garske, Kristina K; Kim, Elliot E; Gee, Stephanie S; Rodriguez, Alejandra A; Muxel, Reinhard R; Matikainen, Niina N; Söderlund, Sanni S; Motazacker, Mahdi M MM; Borén, Jan J; Lamina, Claudia C; Kronenberg, Florian F; Schneider, Wolfgang J WJ; Palotie, Aarno A; Laakso, Markku M; Taskinen, Marja-Riitta MR; Pajukanta, Päivi P

Publication Date: 2017-09

Variant appearance in text: APOB: S1613T; rs61742247

PubMed Link: 28772107

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: APOB: S1613T; rs61742247

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: APOB: S1613T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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