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Alison J Coffey

Showing results (11-20 of 39) with videos related to

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Annals of Neurology|May 31, 2023
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome SpectrumElizabeth M McCormick, Kierstin Keller, Julie P Taylor, et al.
Epilepsy Research|June 11, 2011
Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS)Guy D Leschziner, Alison J Coffey, Toby Andrew, et al.
Cell Genomics|February 23, 2023
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 casesAmanda R Clause, Julie P Taylor, Revathi Rajkumar, et al.
Journal of Molecular and Cellular Cardiology|January 31, 2015
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndromeKonstantin Wemhöner, Corinna Friedrich, Birgit Stallmeyer, et al.
Investigative Genetics|December 3, 2011
Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencingJohanna Maria de Gruijter, Oscar Lao, Mark Vermeulen, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variantsEva Lenassi, Ajoy Vincent, Zheng Li, et al.
Pharmacogenomics|December 19, 2007
The association between polymorphisms in RLIP76 and drug response in epilepsyGuy D Leschziner, Andrea L Jorgensen, Toby Andrew, et al.
Human Mutation|February 19, 2022
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationshipsJulie P Taylor, Alka Malhotra, Nicole J Burns, et al.
The Lancet. Neurology|July 22, 2006
Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort studyGuy Leschziner, Andrea L Jorgensen, Toby Andrew, et al.
European Journal of Human Genetics : EJHG|March 3, 2011
The GENCODE exome: sequencing the complete human exomeAlison J Coffey, Felix Kokocinski, Maria S Calafato, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
Annals of Neurology|May 31, 2023
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome SpectrumElizabeth M McCormick, Kierstin Keller, Julie P Taylor, et al.
Epilepsy Research|June 11, 2011
Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS)Guy D Leschziner, Alison J Coffey, Toby Andrew, et al.
Cell Genomics|February 23, 2023
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 casesAmanda R Clause, Julie P Taylor, Revathi Rajkumar, et al.
Journal of Molecular and Cellular Cardiology|January 31, 2015
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndromeKonstantin Wemhöner, Corinna Friedrich, Birgit Stallmeyer, et al.
Investigative Genetics|December 3, 2011
Contrasting signals of positive selection in genes involved in human skin-color variation from tests based on SNP scans and resequencingJohanna Maria de Gruijter, Oscar Lao, Mark Vermeulen, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variantsEva Lenassi, Ajoy Vincent, Zheng Li, et al.
Pharmacogenomics|December 19, 2007
The association between polymorphisms in RLIP76 and drug response in epilepsyGuy D Leschziner, Andrea L Jorgensen, Toby Andrew, et al.
Human Mutation|February 19, 2022
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationshipsJulie P Taylor, Alka Malhotra, Nicole J Burns, et al.
The Lancet. Neurology|July 22, 2006
Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort studyGuy Leschziner, Andrea L Jorgensen, Toby Andrew, et al.
European Journal of Human Genetics : EJHG|March 3, 2011
The GENCODE exome: sequencing the complete human exomeAlison J Coffey, Felix Kokocinski, Maria S Calafato, et al.
Pageof 4