Literature DB >> 31815736

Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes.

Sian Ellard1,2, Kevin Colclough2, Kashyap A Patel1, Andrew T Hattersley1.   

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Year:  2020        PMID： 31815736      PMCID： PMC6934181          DOI： 10.1172/JCI133516

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  22 in total

1.  Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Authors:  Natasha T Strande; Erin Rooney Riggs; Adam H Buchanan; Ozge Ceyhan-Birsoy; Marina DiStefano; Selina S Dwight; Jenny Goldstein; Rajarshi Ghosh; Bryce A Seifert; Tam P Sneddon; Matt W Wright; Laura V Milko; J Michael Cherry; Monica A Giovanni; Michael F Murray; Julianne M O'Daniel; Erin M Ramos; Avni B Santani; Alan F Scott; Sharon E Plon; Heidi L Rehm; Christa L Martin; Jonathan S Berg
Journal:  Am J Hum Genet       Date:  2017-05-25       Impact factor: 11.025

Review 2.  The role of the carboxyl ester lipase (CEL) gene in pancreatic disease.

Authors:  Bente B Johansson; Karianne Fjeld; Khadija El Jellas; Anny Gravdal; Monica Dalva; Erling Tjora; Helge Ræder; Rohit N Kulkarni; Stefan Johansson; Pål R Njølstad; Anders Molven
Journal:  Pancreatology       Date:  2017-12-05       Impact factor: 3.996

3.  Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes.

Authors:  Zhu Ming-Qiang; Dai Yang-Li; Huang Ke; Wu Wei; Fu Jun-Fen; Zou Chao-Chun; Dong Guan-Ping
Journal:  J Pediatr Endocrinol Metab       Date:  2019-07-26       Impact factor: 1.634

4.  Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients.

Authors:  Beverley M Shields; Maggie Shepherd; Michelle Hudson; Timothy J McDonald; Kevin Colclough; Jaime Peters; Bridget Knight; Chris Hyde; Sian Ellard; Ewan R Pearson; Andrew T Hattersley
Journal:  Diabetes Care       Date:  2017-08       Impact factor: 19.112

5.  Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Authors:  Anna L Gloyn; Ewan R Pearson; Jennifer F Antcliff; Peter Proks; G Jan Bruining; Annabelle S Slingerland; Neville Howard; Shubha Srinivasan; José M C L Silva; Janne Molnes; Emma L Edghill; Timothy M Frayling; I Karen Temple; Deborah Mackay; Julian P H Shield; Zdenek Sumnik; Adrian van Rhijn; Jerry K H Wales; Penelope Clark; Shaun Gorman; Javier Aisenberg; Sian Ellard; Pål R Njølstad; Frances M Ashcroft; Andrew T Hattersley
Journal:  N Engl J Med       Date:  2004-04-29       Impact factor: 91.245

6.  Insights From Molecular Characterization of Adult Patients of Families With Multigenerational Diabetes.

Authors:  Serena Pezzilli; Ornella Ludovico; Tommaso Biagini; Luana Mercuri; Federica Alberico; Eleonora Lauricella; Hamza Dallali; Daniele Capocefalo; Massimo Carella; Elide Miccinilli; Pamela Piscitelli; Maria Giovanna Scarale; Tommaso Mazza; Vincenzo Trischitta; Sabrina Prudente
Journal:  Diabetes       Date:  2017-10-09       Impact factor: 9.461

7.  Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty.

Authors:  Karen E Weck
Journal:  Genet Med       Date:  2018-02-01       Impact factor: 8.822

8.  Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.

Authors:  Lori L Bonnycastle; Peter S Chines; Takashi Hara; Jeroen R Huyghe; Amy J Swift; Pirkko Heikinheimo; Jana Mahadevan; Sirkku Peltonen; Hanna Huopio; Pirjo Nuutila; Narisu Narisu; Rachel L Goldfeder; Michael L Stitzel; Simin Lu; Michael Boehnke; Fumihiko Urano; Francis S Collins; Markku Laakso
Journal:  Diabetes       Date:  2013-07-31       Impact factor: 9.461

9.  Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

Authors:  Kashyap A Patel; Jarno Kettunen; Markku Laakso; Alena Stančáková; Thomas W Laver; Kevin Colclough; Matthew B Johnson; Marc Abramowicz; Leif Groop; Päivi J Miettinen; Maggie H Shepherd; Sarah E Flanagan; Sian Ellard; Nobuya Inagaki; Andrew T Hattersley; Tiinamaija Tuomi; Miriam Cnop; Michael N Weedon
Journal:  Nat Commun       Date:  2017-10-12       Impact factor: 14.919

10.  Using high-resolution variant frequencies to empower clinical genome interpretation.

Authors:  Nicola Whiffin; Eric Minikel; Roddy Walsh; Anne H O'Donnell-Luria; Konrad Karczewski; Alexander Y Ing; Paul J R Barton; Birgit Funke; Stuart A Cook; Daniel MacArthur; James S Ware
Journal:  Genet Med       Date:  2017-05-18       Impact factor: 8.822
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  8 in total

1.  Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.

Authors:  Mathilde Boissel; Alexandre Bolze; Emmanuelle Durand; Amélie Bonnefond; Bénédicte Toussaint; Emmanuel Vaillant; Stefan Gaget; Franck De Graeve; Aurélie Dechaume; Frédéric Allegaert; David Le Guilcher; Loïc Yengo; Véronique Dhennin; Jean-Michel Borys; James T Lu; Elizabeth T Cirulli; Gai Elhanan; Ronan Roussel; Beverley Balkau; Michel Marre; Sylvia Franc; Guillaume Charpentier; Martine Vaxillaire; Mickaël Canouil; Nicole L Washington; Joseph J Grzymski; Philippe Froguel
Journal:  Nat Metab       Date:  2020-10-12

2.  Precision medicine in diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).

Authors:  Wendy K Chung; Karel Erion; Jose C Florez; Andrew T Hattersley; Marie-France Hivert; Christine G Lee; Mark I McCarthy; John J Nolan; Jill M Norris; Ewan R Pearson; Louis Philipson; Allison T McElvaine; William T Cefalu; Stephen S Rich; Paul W Franks
Journal:  Diabetologia       Date:  2020-09       Impact factor: 10.122

Review 3.  Monogenic diabetes: a gateway to precision medicine in diabetes.

Authors:  Haichen Zhang; Kevin Colclough; Anna L Gloyn; Toni I Pollin
Journal:  J Clin Invest       Date:  2021-02-01       Impact factor: 14.808

4.  Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.

Authors:  Kevin Colclough; Sian Ellard; Andrew Hattersley; Kashyap Patel
Journal:  Diabetes       Date:  2022-03-01       Impact factor: 9.337

Review 5.  The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

Authors:  Rebecca Jeyaraj; Kirsten McKay Bounford; Nicola Ruth; Carla Lloyd; Fiona MacDonald; Christian J Hendriksz; Ulrich Baumann; Paul Gissen; Deirdre Kelly
Journal:  Genes (Basel)       Date:  2021-11-21       Impact factor: 4.096

Review 6.  How do I diagnose Maturity Onset Diabetes of the Young in my patients?

Authors:  Kevin Colclough; Kashyap Patel
Journal:  Clin Endocrinol (Oxf)       Date:  2022-05-02       Impact factor: 3.523

Review 7.  Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes.

Authors:  Amélie Bonnefond; Robert K Semple
Journal:  Diabetologia       Date:  2022-05-27       Impact factor: 10.460

Review 8.  Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Diabetes Care Editors' Expert Forum.

Authors:  Matthew C Riddle; Louis H Philipson; Stephen S Rich; Annelie Carlsson; Paul W Franks; Siri Atma W Greeley; John J Nolan; Ewan R Pearson; Philip S Zeitler; Andrew T Hattersley
Journal:  Diabetes Care       Date:  2020-12       Impact factor: 19.112
  8 in total

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