Literature DB >> 26375289

The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension.

William A Gahl1, Anastasia L Wise1, Euan A Ashley2.   

Abstract

Mesh:

Year:  2015        PMID: 26375289     DOI: 10.1001/jama.2015.12249

Source DB:  PubMed          Journal:  JAMA        ISSN: 0098-7484            Impact factor:   56.272


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  48 in total

1.  The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.

Authors:  Rachel B Ramoni; John J Mulvihill; David R Adams; Patrick Allard; Euan A Ashley; Jonathan A Bernstein; William A Gahl; Rizwan Hamid; Joseph Loscalzo; Alexa T McCray; Vandana Shashi; Cynthia J Tifft; Anastasia L Wise
Journal:  Am J Hum Genet       Date:  2017-02-02       Impact factor: 11.025

2.  Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

Authors:  Ortal Barel; May Christine V Malicdan; Bruria Ben-Zeev; Judith Kandel; Hadass Pri-Chen; Joshi Stephen; Inês G Castro; Jeremy Metz; Osama Atawa; Sharon Moshkovitz; Esther Ganelin; Iris Barshack; Sylvie Polak-Charcon; Dvora Nass; Dina Marek-Yagel; Ninette Amariglio; Nechama Shalva; Thierry Vilboux; Carlos Ferreira; Ben Pode-Shakked; Gali Heimer; Chen Hoffmann; Tal Yardeni; Andreea Nissenkorn; Camila Avivi; Eran Eyal; Nitzan Kol; Efrat Glick Saar; Douglas C Wallace; William A Gahl; Gideon Rechavi; Michael Schrader; David M Eckmann; Yair Anikster
Journal:  Brain       Date:  2017-03-01       Impact factor: 13.501

3.  A Patient with Sjogren's Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis.

Authors:  Jason Hom; Shruti Marwaha; Anna Postolova; Jessie Kittle; Rosaline Vasquez; Jean Davidson; Jennefer Kohler; Annika Dries; Liliana Fernandez-Betancourt; Marta Majcherska; Joanna Dearlove; Shyam Raghavan; Hannes Vogel; Jonathan A Bernstein; Paul Fisher; Euan Ashley; Jacinda Sampson; Matthew Wheeler
Journal:  J Gen Intern Med       Date:  2019-03-18       Impact factor: 5.128

4.  Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Authors:  Elena-Raluca Nicoli; Mary R Weston; Mary Hackbarth; Alissa Becerril; Austin Larson; Wadih M Zein; Peter R Baker; John Douglas Burke; Heidi Dorward; Mariska Davids; Yan Huang; David R Adams; Patricia M Zerfas; Dong Chen; Thomas C Markello; Camilo Toro; Tim Wood; Gene Elliott; Mylinh Vu; Wei Zheng; Lisa J Garrett; Cynthia J Tifft; William A Gahl; Debra L Day-Salvatore; Joseph A Mindell; May Christine V Malicdan
Journal:  Am J Hum Genet       Date:  2019-05-30       Impact factor: 11.025

Review 5.  Towards precision medicine.

Authors:  Euan A Ashley
Journal:  Nat Rev Genet       Date:  2016-08-16       Impact factor: 53.242

6.  The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition.

Authors:  In-Hee Lee; Jose A Negron; Carles Hernandez-Ferrer; William Jefferson Alvarez; Kenneth D Mandl; Sek Won Kong
Journal:  Hum Mutat       Date:  2019-11-15       Impact factor: 4.878

7.  Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

Authors:  Chloe M Reuter; Jennefer N Kohler; Devon Bonner; Diane Zastrow; Liliana Fernandez; Annika Dries; Shruti Marwaha; Jean Davidson; Elly Brokamp; Matthew Herzog; Joyce Hong; Ellen Macnamara; Jill A Rosenfeld; Kelly Schoch; Rebecca Spillmann; Joseph Loscalzo; Joel Krier; Joan Stoler; David Sweetser; Christina G S Palmer; John A Phillips; Vandana Shashi; David A Adams; Yaping Yang; Euan A Ashley; Paul G Fisher; John J Mulvihill; Jonathan A Bernstein; Matthew T Wheeler
Journal:  J Genet Couns       Date:  2019-09-03       Impact factor: 2.537

8.  IRF2BPL Is Associated with Neurological Phenotypes.

Authors:  Paul C Marcogliese; Vandana Shashi; Rebecca C Spillmann; Nicholas Stong; Jill A Rosenfeld; Mary Kay Koenig; Julián A Martínez-Agosto; Matthew Herzog; Agnes H Chen; Patricia I Dickson; Henry J Lin; Moin U Vera; Noriko Salamon; John M Graham; Damara Ortiz; Elena Infante; Wouter Steyaert; Bart Dermaut; Bruce Poppe; Hyung-Lok Chung; Zhongyuan Zuo; Pei-Tseng Lee; Oguz Kanca; Fan Xia; Yaping Yang; Edward C Smith; Joan Jasien; Sujay Kansagra; Gail Spiridigliozzi; Mays El-Dairi; Robert Lark; Kacie Riley; Dwight D Koeberl; Katie Golden-Grant; Shinya Yamamoto; Michael F Wangler; Ghayda Mirzaa; Dimitri Hemelsoet; Brendan Lee; Stanley F Nelson; David B Goldstein; Hugo J Bellen; Loren D M Pena
Journal:  Am J Hum Genet       Date:  2018-07-26       Impact factor: 11.025

9.  Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.

Authors:  Megan E Grove; Shana White; Dianna G Fisk; Shannon Rego; Orit Dagan-Rosenfeld; Jennefer N Kohler; Chloe M Reuter; Devon Bonner; Matthew T Wheeler; Jonathan A Bernstein; Kelly E Ormond; Andrea K Hanson-Kahn
Journal:  J Genet Couns       Date:  2019-02-01       Impact factor: 2.537

Review 10.  Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio.

Authors:  Teri A Manolio
Journal:  Atherosclerosis       Date:  2016-08-26       Impact factor: 5.162

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