作者：Quan Li¹ ; ⁴ ; Kai Wang¹ ; ² ; ³ ; ^{kw2701@cumc.columbia.edu}

关键词：InterVar ; variant annotation ; variant interpretation ; clinical interpretation ; ClinVar ; genetic diagnosis ; ACMG ; ANNOVAR

刊名：The American Journal of Human Genetics

出版年：2017

作者：Christopher J. Klein ; MD^a ; ^{klein.christopher@mayo.edu} ; Tatiana M. Foroud ; PhD^b

关键词：ACMG ; American College of Medical Genetics and Genomics ; bp ; base pair ; CNV ; copy number variation ; HGMD ; Human Gene Mutation Database ; NGS ; next-generation sequencing ; OMIM ; Online Mendelian Inheritance in Man ; WES ; whole-exome sequencing ; WGS ; whole-genome sequencing

刊名：Mayo Clinic Proceedings

出版年：2017

作者：Noralane M. Lindor ; MD^a ; ^{nlindor@mayo.edu} ; Stephen N. Thibodeau ; PhD^b ; Wylie Burke ; MD ; PhD^c

关键词：ACMGG ; American College of Medical Genetics and Genomics ; EMR ; electronic medical record ; GWAS ; genome-wide association study ; HGP ; Human Genome Project ; SNP ; single-nucleotide polymorphism ; WES ; whole-exome sequencing ; WGS ; whole-genome sequencing ; VUS ; variant of unknown significance

刊名：Mayo Clinic Proceedings

出版年：2017

作者：Petra La&scaron ; &scaron ; uthová ; ^a ; ^{petra.lassuthova@fnmotol.cz} ; Dana &Scaron ; afka Brožková ; ^a ; Jana Neupauerová ; ^a ; Marcela Krůtová ; ^a ; Radim Mazanec^b ; Pavel Seeman^a

关键词：Charcot&ndash ; Marie&ndash ; Tooth disease ; De novo ; Whole exome sequencing ; GNB4

刊名：Neuromuscular Disorders

出版年：2017

作者：Christine S. Brown^a ; ^{Christine.brown@npkua.org" class="auth_mail" title="E-mail the corresponding author} ; Uta Lichter-Konecki^b ; ^{Uta.Lichter-Konecki@DrexelMed.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：ACMG ; American College of Medical Genetics and Genomics ; NPKUA ; National PKU Alliance ; PAH ; phenylalanine hydroxylase ; Phe ; phenylalanine ; PKU ; phenylketonuria

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

作者：Kathryn M. Camp^a ; ¹ ; ^{campkm@od.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Danuta Krotoski^b ; ^{krotoskd@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Melissa A. Parisi^b ; ^{parisima@mail.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Katrina A. Gwinn^c ; ^{gwinnk@ninds.nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Bruce H. Cohen^d ; ^{bcohen@chmca.org" class="auth_mail" title="E-mail the corresponding author} ; Christine S. Cox^e ; ^{outreach@mitoaction.org" class="auth_mail" title="E-mail the corresponding author} ; Gregory M. Enns^f ; ^{genns@stanford.edu" class="auth_mail" title="E-mail the corresponding author} ; Marni J. Falk^g ; ^{falkm@email.chop.edu" class="auth_mail" title="E-mail the corresponding author} ; Amy C. Goldstein^h ; ^{amy.goldstein@chp.edu" class="auth_mail" title="E-mail the corresponding author} ; Rashmi Gopal-Srivastavaⁱ ; ^{rashmi.gopal-srivastava@nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Grá ; inne S. Gorman^j ; ^{grainne.gorman@newcastle.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Stephen P. Hersh^k ; ^{hershs@starpower.net" class="auth_mail" title="E-mail the corresponding author} ; Michio Hirano^l ; ^{mh29@cumc.columbia.edu" class="auth_mail" title="E-mail the corresponding author} ; Freddie Ann Hoffman^m ; ^{fhoffman@heterogeneity-LLC.com" class="auth_mail" title="E-mail the corresponding author} ; Amel Karaaⁿ ; ^{akaraa@mgh.harvard.edu" class="auth_mail" title="E-mail the corresponding author} ; Erin L. MacLeod^o ; ^{emacleod@childrensnational.org" class="auth_mail" title="E-mail the corresponding author} ; Robert McFarland^j ; ^{robert.mcfarland@newcastle.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Charles Mohan^p ; ^{chuckm@umdf.org" class="auth_mail" title="E-mail the corresponding author} ; Andrew E. Mulberg^q ; ² ; ^{amulberg@amicusrx.com" class="auth_mail" title="E-mail the corresponding author} ; Joanne C. Odenkirchen^c ; ^{jo21x@nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Sumit Parikh^r ; ^{parikhs@ccf.org" class="auth_mail" title="E-mail the corresponding author} ; Patricia J. Rutherford^s ; ^{triciarutherford@vitaflo.co.uk" class="auth_mail" title="E-mail the corresponding author} ; Shawne K. Suggs-Anderson^t ; ^{shawne.suggs-anderson@fda.hhs.gov" class="auth_mail" title="E-mail the corresponding author} ; W.H. Wilson Tang^u ; ^{tangw@ccf.org" class="auth_mail" title="E-mail the corresponding author} ; Jerry Vockley^v ; ^{gerard.vockley@chp.edu" class="auth_mail" title="E-mail the corresponding author} ; Lynne A. Wolfe^w ; ^{lynne.wolfe@nih.gov" class="auth_mail" title="E-mail the corresponding author} ; Steven Yannicelli^x ; ^{steven.yannicelli@nutricia.com" class="auth_mail" title="E-mail the corresponding author} ; Philip E. Yeske^p ; ^{philip.yeske@umdf.org" class="auth_mail" title="E-mail the corresponding author} ; Paul M. Coates^a ; ^{coatesp@od.nih.gov" class="auth_mail" title="E-mail the corresponding author}

关键词：ACMG ; American College of Medical Genetics and Genomics ; ATP ; adenosine triphosphate ; CDE ; common data elements ; cGMP ; current good manufacturing practices ; CNS ; central nervous system ; CoQ10 ; coenzyme Q10 ; CPEO ; chronic progressive external ophthalmoplegia ; DSHEA ; Dietary Supplement Health and Education Act of 1994 ; FDA ; U.S. Food and Drug Administration ; FFDCA ; Federal Food ; Drug ; and Cosmetic Act ; GMDI ; Genetic Metabolic Dietitians International ; FSDU ; Food for Special Dietary Use ; IEM ; inbor

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Harriet Corvol^a ; ^b ; ^c ; Kristin E. Thompson^a ; ^b ; Olivier Tabary^a ; ^b ; Philippe le Rouzic^a ; ^b ; Loï ; c Guillot^a ; ^b ; ^{loic.guillot@inserm.fr" class="auth_mail" title="E-mail the corresponding author}

关键词：AAV ; Adeno associated virus ; ABC ; ATP-binding cassette ; ACMG ; American College Medical Genetics ; AH ; Ancestral Haplotype ; ASL ; airway surface liquid ; ATP ; Adenosine triphosphate ; cas ; CRISPR associated ; CF ; Cystic fibrosis ; CFTR ; Cystic Fibrosis Transmembrane conductance Regulator ; CFTR2 ; Clinical and Functional Translation of CFTR ; CRISPR ; clustered regulatory interspaced short palindromic repeat ; CYP3A ; cytochrome P450 family 3 ; subfamily A ; DDI ; drug-drug interaction ; EMA ; European Medical Ag

刊名：Translational Research

出版年：2016

作者：Lamia Ait Ali^a ; ^b ; ^{aitlamia@ifc.cnr.it} ; Rosa Sicari^a ; Pierluigi Festa^b ; ^c

关键词：Anatomically corrected malposition of great arteries ; Great arteries malposition ; Cardiac magnetic resonance

刊名：Progress in Pediatric Cardiology

出版年：2016

作者：Graham B. Sinclair^a ; ^c ; ^d ; ^e ; ^{gsinclair@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author} ; Clara D.M. van Karnebeek^b ; ^c ; ^d ; ^e ; ^f ; Manuel Ester^a ; ^d ; Frances Boyd^a ; ^d ; Tanya Nelson^a ; ^d ; ^e ; Sylvia Stockler-Ipsiroglu^b ; ^c ; ^d ; ^e ; Hilary Vallance^a ; ^c ; ^d ; ^e

关键词：GAMT ; guanidinoacetate methyltransferase ; BC ; British Columbia ; GAA ; guanidinoacetate ; LC-MS/MS ; liquid chromatography tandem mass spectrometry ; MSUD ; maple syrup urine disease ; AGAT ; arginine ; glycine amidinotransferase ; ddH20 ; distilled deionized water ; ACN ; acetonitrile ; ACMG ; American college of medical genetics ; Human gene ; GAMT (HGNC ; 416) ; guanidinoacetate N-methyltransferase ; Human gene ; SLC6A8 (HGNC ; 11055) ; solute carrier family 6 (neurotransmitter transporter) ; member 8

刊名：Molecular Genetics and Metabolism

出版年：2016

作者：Rani H. Singh^a ; ^b ; ^{rsingh@emory.edu" class="auth_mail" title="E-mail the corresponding author} ; Amy C. Cunningham^c ; ^{acunnin@tulane.edu" class="auth_mail" title="E-mail the corresponding author} ; Shideh Mofidi^d ; ^{shideh.mofidi@hotmail.com" class="auth_mail" title="E-mail the corresponding author} ; Teresa D. Douglas^a ; ^{teresadd@alum.emory.edu" class="auth_mail" title="E-mail the corresponding author} ; Dianne M. Frazier^e ; ^{Dianne_frazier@med.unc.edu" class="auth_mail" title="E-mail the corresponding author} ; Debra Geary Hook^f ; ^{debrahook@sbcglobal.net" class="auth_mail" title="E-mail the corresponding author} ; Laura Jeffers^g ; ^{Jefferl2@ccf.org" class="auth_mail" title="E-mail the corresponding author} ; Helen McCune^h ; ^{mccunh@shands.ufl.edu" class="auth_mail" title="E-mail the corresponding author} ; Kathryn D. Moseleyⁱ ; ^{kmoseley@usc.edu" class="auth_mail" title="E-mail the corresponding author} ; Beth Ogata^j ; ^{bogata@uw.edu" class="auth_mail" title="E-mail the corresponding author} ; Surekha Pendyal^e ; ^{surekha_pendyal@med.unc.edu" class="auth_mail" title="E-mail the corresponding author} ; Jill Skrabal^k ; ^{Jskrabal@unmc.edu" class="auth_mail" title="E-mail the corresponding author} ; Patricia L. Splett^l ; ^{splet004@umn.edu" class="auth_mail" title="E-mail the corresponding author} ; Adrya Stembridge^a ; ^{astembr@emory.edu" class="auth_mail" title="E-mail the corresponding author} ; Ann Wessel^m ; ^{ann.wessel@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author} ; Frances Rohr^m ; ^{frances.rohr@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：ACMG ; American College of Medical Genetics ; AGREE II ; Appraisal of Guidelines for Research and Evaluation ; BH4 ; tetrahydrobiopterin ; BMD ; bone mineral disease ; DRI ; dietary reference intake ; DXA ; dual x-ray absorptiometry ; EF ; executive function ; FFM ; fat-free mass ; GMDI ; Genetic Metabolic Dietitians International ; IMD ; inherited metabolic disorder ; LNAA ; large neutral amino acid ; MeSH ; medical subject heading ; MPKU ; maternal PKU syndrome ; MRI ; magnetic resonance imaging ; MSUD ; Maple Syrup Urine

刊名：Molecular Genetics and Metabolism

出版年：2016