Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: SLC10A2: L169L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: SLC10A2: L169L; rs41281678

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: SLC10A2: L169L; rs41281678

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SLC10A2: L169L; rs41281678

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The solute carrier family 10 (SLC10): beyond bile acid transport.

Molecular Aspects Of Medicine

Claro da Silva, Tatiana T; Polli, James E JE; Swaan, Peter W PW

Publication Date: 2013

Variant appearance in text: ASBT: Leu169Leu

PubMed Link: 23506869

Variant Present in the following documents:

• Main text

View BVdb publication page

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A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.

Plos One

Renner, Olga O; Harsch, Simone S; Schaeffeler, Elke E; Winter, Stefan S; Schwab, Matthias M; Krawczyk, Marcin M; Rosendahl, Jonas J; Wittenburg, Henning H; Lammert, Frank F; Stange, Eduard F EF

Publication Date: 2009-10-13

Variant appearance in text: SLC10A2: 505C>T; rs41281678

PubMed Link: 19823678

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: a case control study.

Bmc Medical Genetics

Grünhage, Frank F; Jungck, Matthias M; Lamberti, Christoph C; Keppeler, Hildegard H; Becker, Ursula U; Schulte-Witte, Hildegard H; Plassmann, Dominik D; Friedrichs, Nicolaus N; Buettner, Reinhard R; Aretz, Stefan S; Sauerbruch, Tilman T; Lammert, Frank F

Publication Date: 2008-07-21

Variant appearance in text: SLC10A2: L169L

PubMed Link: 18644122

Variant Present in the following documents:

• Main text
• 1471-2350-9-70.pdf

View BVdb publication page

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