Literature DB >> 21558523

The NIH Undiagnosed Diseases Program: lessons learned.

William A Gahl1, Cynthia J Tifft.   

Abstract

Mesh：

Year:  2011        PMID： 21558523     DOI： 10.1001/jama.2011.613

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


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  60 in total

Review 1.  Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.

Authors:  Jodi Warman Chardon; Chandree Beaulieu; Taila Hartley; Kym M Boycott; David A Dyment
Journal:  Curr Neurol Neurosci Rep       Date:  2015-09       Impact factor: 5.081

2.  Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Authors:  Marie Morimoto; Helen Waller-Evans; Zineb Ammous; Xiaofei Song; Kevin A Strauss; Davut Pehlivan; Claudia Gonzaga-Jauregui; Erik G Puffenberger; Charles R Holst; Ender Karaca; Karlla W Brigatti; Emily Maguire; Zeynep H Coban-Akdemir; Akiko Amagata; C Christopher Lau; Xenia Chepa-Lotrea; Ellen Macnamara; Tulay Tos; Sedat Isikay; Michele Nehrebecky; John D Overton; Matthew Klein; Thomas C Markello; Jennifer E Posey; David R Adams; Emyr Lloyd-Evans; James R Lupski; William A Gahl; May Christine V Malicdan
Journal:  Am J Hum Genet       Date:  2018-10-25       Impact factor: 11.025

3.  Important role of translational science in rare disease innovation, discovery, and drug development.

Authors:  Anne R Pariser; William A Gahl
Journal:  J Gen Intern Med       Date:  2014-08       Impact factor: 5.128

4.  PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells.

Authors:  Masato Mashimo; Xiangning Bu; Kazumasa Aoyama; Jiro Kato; Hiroko Ishiwata-Endo; Linda A Stevens; Atsushi Kasamatsu; Lynne A Wolfe; Camilo Toro; David Adams; Thomas Markello; William A Gahl; Joel Moss
Journal:  JCI Insight       Date:  2019-02-21

Review 5.  Individualized medicine from prewomb to tomb.

Authors:  Eric J Topol
Journal:  Cell       Date:  2014-03-27       Impact factor: 41.582

Review 6.  The National Institutes of Health undiagnosed diseases program.

Authors:  Cynthia J Tifft; David R Adams
Journal:  Curr Opin Pediatr       Date:  2014-12       Impact factor: 2.856

7.  Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

Authors:  Mariska Davids; Minal Menezes; Yiran Guo; Scott D McLean; Hakon Hakonarson; Felicity Collins; Lisa Worgan; Charles J Billington; Irina Maric; Rebecca Okashah Littlejohn; Tito Onyekweli; David R Adams; Cynthia J Tifft; William A Gahl; Lynne A Wolfe; John Christodoulou; May Christine V Malicdan
Journal:  Mol Genet Metab       Date:  2020-02-10       Impact factor: 4.797

8.  Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

Authors:  David R Adams; Hongjie Yuan; Todd Holyoak; Katrina H Arajs; Parvin Hakimi; Thomas C Markello; Lynne A Wolfe; Thierry Vilboux; Barbara K Burton; Karin Fuentes Fajardo; George Grahame; Conisha Holloman; Murat Sincan; Ann C M Smith; Gordon A Wells; Yan Huang; Hugo Vega; James P Snyder; Gretchen A Golas; Cynthia J Tifft; Cornelius F Boerkoel; Richard W Hanson; Stephen F Traynelis; Douglas S Kerr; William A Gahl
Journal:  Mol Genet Metab       Date:  2014-04-13       Impact factor: 4.797

Review 9.  The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.

Authors:  Andrew R Cullinane; Alejandro A Schäffer; Marjan Huizing
Journal:  Traffic       Date:  2013-04-24       Impact factor: 6.215

10.  Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.

Authors:  Thomas Johnstone; Jennifer Wang; Daron Ross; Nicholas Balanda; Yan Huang; Rena Godfrey; Catherine Groden; Brandon R Barton; William Gahl; Camilo Toro; May Christine V Malicdan
Journal:  Mol Genet Metab       Date:  2020-10-14       Impact factor: 4.797
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