Publications:

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Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Endocrinology, Diabetes & Metabolism

Billings, Liana K LK; Shi, Zhuqing Z; Resurreccion, W Kyle WK; Wang, Chi-Hsiung CH; Wei, Jun J; Pollin, Toni I TI; Udler, Miriam S MS; Xu, Jianfeng J

Publication Date: 2022-11

Variant appearance in text: ABCC8: R248X; rs72559730

PubMed Link: 36208030

Variant Present in the following documents:

• EDM2-5-e372-s001.xlsx, sheet 1

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: ABCC8: 742C>T; R248X; rs72559730

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: ABCC8: 742C>T; R248X; rs72559730

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Kaseniit, Kristjan E KE; Haque, Imran S IS; Goldberg, James D JD; Shulman, Lee P LP; Muzzey, Dale D

Publication Date: 2020-10

Variant appearance in text: ABCC8: 742C>T

PubMed Link: 32595206

Variant Present in the following documents:

• 41436_2020_869_MOESM2_ESM.xlsx, sheet 15

View BVdb publication page

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Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning.

European Journal Of Pediatrics

Ni, Jinwen J; Ge, Jingjie J; Zhang, Miaoying M; Hussain, Khalid K; Guan, Yihui Y; Cheng, Ruoqian R; Xi, Li L; Zheng, Zhangqian Z; Ren, Shuhua S; Luo, Feihong F

Publication Date: 2019-08

Variant appearance in text: ABCC8: 742C>T; R248X

PubMed Link: 31218401

Variant Present in the following documents:

• Main text
• 431_2019_Article_3408.pdf

View BVdb publication page

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Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Bmc Medicine

Bansal, Vikas V; Gassenhuber, Johann J; Phillips, Tierney T; Oliveira, Glenn G; Harbaugh, Rebecca R; Villarasa, Nikki N; Topol, Eric J EJ; Seufferlein, Thomas T; Boehm, Bernhard O BO

Publication Date: 2017-12-06

Variant appearance in text: ABCC8: 742C>T; R248*

PubMed Link: 29207974

Variant Present in the following documents:

• 12916_2017_977_MOESM1_ESM.pdf

View BVdb publication page

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Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.

Diabetology & Metabolic Syndrome

Del Roio Liberatore, Raphael R; Ramos, Priscila Manzini PM; Guerra, Gil G; Manna, Thais Della TD; Silva, Ivani Novato IN; Martinelli, Carlos Eduardo CE

Publication Date: 2015

Variant appearance in text: ABCC8: 742C>T

PubMed Link: 25972930

Variant Present in the following documents:

• Main text
• 13098_2014_Article_422.pdf

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs72559730

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs72559730

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel.

Diabetes

Calabria, Andrew C AC; Li, Changhong C; Gallagher, Paul R PR; Stanley, Charles A CA; De León, Diva D DD

Publication Date: 2012-10

Variant appearance in text: ABCC8: R248X

PubMed Link: 22855730

Variant Present in the following documents:

• Main text
• 2585.pdf

View BVdb publication page

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