Literature DB >> 26986878

An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants.

Jeffrey Kleinberger1, Kristin A Maloney1, Toni I Pollin1, Linda Jo Bone Jeng1.   

Abstract

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Year:  2016        PMID： 26986878      PMCID： PMC5026899          DOI： 10.1038/gim.2016.13

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  2 in total

1.  Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.

Authors:  Jason Flannick; Nicola L Beer; Alexander G Bick; Vineeta Agarwala; Janne Molnes; Namrata Gupta; Noël P Burtt; Jose C Florez; James B Meigs; Herman Taylor; Valeriya Lyssenko; Henrik Irgens; Ervin Fox; Frank Burslem; Stefan Johansson; M Julia Brosnan; Jeff K Trimmer; Christopher Newton-Cheh; Tiinamaija Tuomi; Anders Molven; James G Wilson; Christopher J O'Donnell; Sekar Kathiresan; Joel N Hirschhorn; Pål R Njølstad; Tim Rolph; J G Seidman; Stacey Gabriel; David R Cox; Christine E Seidman; Leif Groop; David Altshuler
Journal:  Nat Genet       Date:  2013-10-06       Impact factor: 38.330

2.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822
  2 in total
  42 in total

1.  Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.

Authors:  Rosa Navarrete; Fátima Leal; Ana I Vega; Ana Morais-López; María Teresa Garcia-Silva; Elena Martín-Hernández; Pilar Quijada-Fraile; Ana Bergua; Inmaculada Vives; Inmaculada García-Jiménez; Raquel Yahyaoui; Consuelo Pedrón-Giner; Amaya Belanger-Quintana; Sinziana Stanescu; Elvira Cañedo; Oscar García-Campos; María Bueno-Delgado; Carmen Delgado-Pecellín; Isidro Vitoria; María Dolores Rausell; Elena Balmaseda; Mari Luz Couce; Lourdes R Desviat; Begoña Merinero; Pilar Rodríguez-Pombo; Magdalena Ugarte; Celia Pérez-Cerdá; Belén Pérez
Journal:  Eur J Hum Genet       Date:  2019-01-09       Impact factor: 4.246

2.  Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.

Authors:  R Sighart; J Rech; A Hueber; N Blank; S Löhr; A Reis; H Sticht; U Hüffmeier
Journal:  Rheumatol Int       Date:  2017-11-20       Impact factor: 2.631

3.  Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar.

Authors:  Abhinav Jain; Shrey Gandhi; Remya Koshy; Vinod Scaria
Journal:  Mol Genet Genomics       Date:  2018-03-20       Impact factor: 3.291

4.  Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.

Authors:  Christian Paludan-Müller; Jonas Ghouse; Oliver B Vad; Cecilie B Herfelt; Pia Lundegaard; Gustav Ahlberg; Nicole Schmitt; Jesper H Svendsen; Stig Haunsø; Henning Bundgaard; Torben Hansen; Jørgen K Kanters; Morten S Olesen
Journal:  Eur J Hum Genet       Date:  2019-05-01       Impact factor: 4.246

5.  Trio-based exome sequencing arrests de novo mutations in early-onset high myopia.

Authors:  Zi-Bing Jin; Jinyu Wu; Xiu-Feng Huang; Chun-Yun Feng; Xue-Bi Cai; Jian-Yang Mao; Lue Xiang; Kun-Chao Wu; Xueshan Xiao; Bethany A Kloss; Zhongshan Li; Zhenwei Liu; Shenghai Huang; Meixiao Shen; Fei-Fei Cheng; Xue-Wen Cheng; Zhi-Li Zheng; Xuejiao Chen; Wenjuan Zhuang; Qingjiong Zhang; Terri L Young; Ting Xie; Fan Lu; Jia Qu
Journal:  Proc Natl Acad Sci U S A       Date:  2017-04-03       Impact factor: 11.205

6.  Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

Authors:  Mev Dominguez-Valentin; Sigve Nakken; Hélène Tubeuf; Daniel Vodak; Per Olaf Ekstrøm; Anke M Nissen; Monika Morak; Elke Holinski-Feder; Alexandra Martins; Pål Møller; Eivind Hovig
Journal:  Fam Cancer       Date:  2018-01       Impact factor: 2.375

7.  SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance.

Authors:  Brett M Kroncke; Andrew M Glazer; Derek K Smith; Jeffrey D Blume; Dan M Roden
Journal:  Circ Genom Precis Med       Date:  2018-05

8.  MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia.

Authors:  Manuela Germeshausen; Phil Ancliff; Jaime Estrada; Markus Metzler; Eva Ponstingl; Horst Rütschle; Dirk Schwabe; Richard H Scott; Sule Unal; Angela Wawer; Bernward Zeller; Matthias Ballmaier
Journal:  Blood Adv       Date:  2018-03-27

9.  Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin.

Authors:  Jakub Trizuljak; Terezie Petruchová; Ivona Blaháková; Zuzana Vrzalová; Věra Hořínová; Martina Doubková; Jozef Michalka; Jiří Mayer; Šárka Pospíšilová; Michael Doubek
Journal:  Mol Syndromol       Date:  2020-03-21

10.  Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.

Authors:  Martin Bezdíčka; Šárka Štolbová; Tomáš Seeman; Ondřej Cinek; Michal Malina; Naděžda Šimánková; Štěpánka Průhová; Jakub Zieg
Journal:  Pediatr Nephrol       Date:  2018-06-04       Impact factor: 3.714
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