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: R1493W; rs28936371

PubMed Link: 36208030

Variant Present in the following documents:

• EDM2-5-e372-s001.xlsx, sheet 1

View BVdb publication page

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Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.

European Journal Of Pediatrics

Marouane, A A; Olde Keizer, R A C M RACM; Frederix, G W J GWJ; Vissers, L E L M LELM; de Boode, W P WP; van Zelst-Stams, W A G WAG

Publication Date: 2022-01

Variant appearance in text: ABCC8: 4477C>T; Arg1493Trp

PubMed Link: 34347148

Variant Present in the following documents:

• 431_2021_4213_MOESM3_ESM.xlsx, sheet 3

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: 4477C>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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Intraoperative Ultrasound: A Tool to Support Tissue-Sparing Curative Pancreatic Resection in Focal Congenital Hyperinsulinism.

Frontiers In Endocrinology

Bendix, Julie J; Laursen, Mette G MG; Mortensen, Michael B MB; Melikian, Maria M; Globa, Evgenia E; Detlefsen, Sönke S; Rasmussen, Lars L; Petersen, Henrik H; Brusgaard, Klaus K; Christesen, Henrik T HT

Publication Date: 2018

Variant appearance in text: ABCC8: 4477C>T; Arg1493Trp

PubMed Link: 30186238

Variant Present in the following documents:

• Main text
• fendo-09-00478.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs28936371

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ABCC8: 4477C>T; Arg1493Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HHF1: R1493W; rs28936371

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: ABCC8: R1493W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.

Pharmacological Research

Chiba, Peter P; Freissmuth, Michael M; Stockner, Thomas T

Publication Date: 2014-05

Variant appearance in text: SUR: R1493W

PubMed Link: 24316454

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Protein Science : A Publication Of The Protein Society

Kelly, Libusha L; Fukushima, Hisayo H; Karchin, Rachel R; Gow, Jason M JM; Chinn, Leslie W LW; Pieper, Ursula U; Segal, Mark R MR; Kroetz, Deanna L DL; Sali, Andrej A

Publication Date: 2010-11

Variant appearance in text: HHF1: R1493W

PubMed Link: 20799350

Variant Present in the following documents:

• Main text

View BVdb publication page

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