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：Francesco Calì ; ^a ; ^{cali@oasi.en.it} ; Valeria Chiavetta^a ; Giuseppa Ruggeri^a ; Maria Piccione^b ; Angelo Selicorni^c ; ^d ; Daniela Palazzo^b ; Maria Bonsignore^e ; Anna Cereda^f ; Maurizio Elia^g ; Pinella Failla^g ; Maria Grazia Figura^g ; Agata Fiumara^h ; Silvia Maitz^c ; Giuseppa Maria Luana Mandarà ; ⁱ ; Teresa Mattina^h ; Alda Ragalmuto^a ; Corrado Romano^g ; Martino Ruggieri^h ; Roberto Salluzzo^a ; Antonino Saporoso^e ; Carmelo Schepis^g ; Giovanni Sorge^h ; Maria Spanò ; ^e ; Gaetano Tortorella^e ; Valentino Romano^j

关键词：Neurofibromatosis type 1 ; Legius's syndrome ; Next generation sequencing ; Mosaicism

刊名：European Journal of Medical 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：Marilyn M. Li^&lowast ; ; ^&dagger ; ; ^{lim5@email.chop.edu} ; Michael Datto^&lowast ; ; ^&Dagger ; ; Eric J. Duncavage^&lowast ; ; ^§ ; ; Shashikant Kulkarni^&lowast ; ; ^¶ ; ; Neal I. Lindeman^&lowast ; ; ^‖ ; Somak Roy^&lowast ; ; ^&lowast ; &lowast ; ; Apostolia M. Tsimberidou^&lowast ; ; ^&dagger ; &dagger ; ; Cindy L. Vnencak-Jones^&lowast ; ; ^&Dagger ; &Dagger ; ; Daynna J. Wolff^&lowast ; ; ^§ ; § ; ; Anas Younes^&lowast ; ; ^¶ ; ¶ ; ; Marina N. Nikiforova^&lowast ; ; ^&lowast ; &lowast ;

刊名：The Journal of Molecular Diagnostics

出版年：2017

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：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：Kathryn M. Camp^a ; ¹ ; ² ; ^{campkm@od.nih.gov" class="auth_mail} ; Melissa A. Parisi^b ; ¹ ; ^{parisima@mail.nih.gov" class="auth_mail} ; Phyllis B. Acosta^c ; ^{pja1933@gmail.com" class="auth_mail} ; Gerard T. Berry^d ; ^{gerard.berry@childrens.harvard.edu" class="auth_mail} ; Deborah A. Bilder^e ; ^{deborah.bilder@hsc.utah.edu" class="auth_mail} ; Nenad Blau^f ; ^g ; ^{nenad.blau@med.uni-heidelberg.de" class="auth_mail} ; Olaf A. Bodamer^h ; ^{obodamer@med.miami.edu" class="auth_mail} ; Jeffrey P. Broscoⁱ ; ^{jbrosco@med.miami.edu" class="auth_mail} ; Christine S. Brown^j ; ^{christine.brown@npkua.org" class="auth_mail} ; Alberto B. Burlina^k ; ^{alberto.burlina@unipd.it" class="auth_mail} ; Barbara K. Burton^l ; ^{bburton@luriechildrens.org" class="auth_mail} ; Christine S. Chang^m ; ^{christine.chang@ahrq.hhs.gov" class="auth_mail} ; Paul M. Coates^a ; ^{coatesp@od.nih.gov" class="auth_mail} ; Amy C. Cunninghamⁿ ; ^{acunnin@tulane.edu" class="auth_mail} ; Steven F. Dobrowolski^o ; ^{dobrowolskis@upmc.edu" class="auth_mail} ; John H. Ferguson^p ; ^{jferg@helix.nih.gov" class="auth_mail} ; Thomas D. Franklin^j ; ^{tom.franklin@npkua.org" class="auth_mail} ; Dianne M. Frazier^q ; ^{dianne_frazier@med.unc.edu" class="auth_mail} ; Dorothy K. Grange^r ; ^{grange_d@kids.wustl.edu" class="auth_mail} ; Carol L. Greene^s ; ^{cgreene@peds.umaryland.edu" class="auth_mail} ; Stephen C. Groft^p ; ^{stephen.groft@nih.gov" class="auth_mail} ; Cary O. Harding^t ; ^{hardingc@ohsu.edu" class="auth_mail} ; R. Rodney Howell^h ; ^{rhowell@miami.edu" class="auth_mail} ; Kathleen L. Huntington^t ; ^{huntingt@ohsu.edu" class="auth_mail} ; Henrietta D. Hyatt-Knorr^p ; ^{henrietta.hyatt-knorr@nih.gov" class="auth_mail} ; Indira P. Jevaji^u ; ^{indira.jevaji@cms.hhs.gov" class="auth_mail} ; Harvey L. Levy^d ; ^{harvey.levy@childrens.harvard.edu" class="auth_mail} ; Uta Lichter-Konecki^v ; ^{ulichter@cnmc.org" class="auth_mail} ; Mary Lou Lindegren^w ; ^{marylou.lindegren@vanderbilt.edu" class="auth_mail} ; Michele A. Lloyd-Puryear^a ; ² ; ^{lloydpuryearma@od.nih.gov" class="auth_mail} ; Kimberlee Matalon^x ; ^{kmatalon@uh.edu" class="auth_mail} ; Anita MacDonald^y ; ^{anita.macdonald@bch.nhs.uk" class="auth_mail} ; Melissa L. McPheeters^z ; ^{melissa.mcpheeters@vanderbilt.edu" class="auth_mail} ; John J. Mitchell^aa ; ^{john.mitchell@muhc.mcgill.ca" class="auth_mail} ; Shideh Mofidi^ab ; ^{shideh_mofidi@nymc.edu" class="auth_mail} ; Kathryn D. Moseley^ac ; ^{kmoseley@usc.edu" class="auth_mail} ; Christine M. Mueller^ad ; ^{christine.mueller@nih.gov" class="auth_mail} ; Andrew E. Mulberg^ae ; ^{andrew.mulberg@fda.hhs.gov" class="auth_mail} ; Lata S. Nerurkar^p ; ^{lnerurkar@gmail.com" class="auth_mail} ; Beth N. Ogata^af ; ^{bogata@uw.edu" class="auth_mail} ; Anne R. Pariser^ae ; ^{anne.pariser@fda.hhs.gov" class="auth_mail} ; Suyash Prasad^ag ; ^{sprasad@bmrn.com" class="auth_mail} ; Gabriella Pridjianⁿ ; ^{pridjian@tulane.edu" class="auth_mail} ; Sonja A. Rasmussen^ah ; ^{skr9@cdc.gov" class="auth_mail} ; Uma M. Reddy^b ; ^{reddyu@mail.nih.gov" class="auth_mail} ; Frances J. Rohr^ai ; ^{frances.rohr@childrens.harvard.edu" class="auth_mail} ; Rani H. Singh^c ; ^{rsingh@emory.edu" class="auth_mail} ; Sandra M. Sirrs^aj ; ^{sandra.sirrs@vch.ca" class="auth_mail} ; Stephanie E. Stremer^ak ; ^{sstremer@yahoo.com" class="auth_mail} ; Danilo A. Tagle^al ; ^{danilo.tagle@nih.gov" class="auth_mail} ; Susan M. Thompson^am ; ^{sue.thompson@health.nsw.gov.au" class="auth_mail} ; Tiina K. Urv^b ; ^{urvtiin@mail.nih.gov" class="auth_mail} ; Jeanine R. Utz^an ; ^{jutz1@fairview.org" class="auth_mail} ; Francjan van Spronsen^ao ; ^{f.j.van.spronsen@umcg.nl" class="auth_mail} ; Jerry Vockley^o ; ^{vockleyg@upmc.edu" class="auth_mail} ; Susan E. Waisbren^d ; ^{susan.waisbren@childrens.harvard.edu" class="auth_mail} ; Linda S. Weglicki^ap ; ^{weglickils@mail.nih.gov" class="auth_mail} ; Desiré ; e A. White^aq ; ^{dawhite@wustl.edu" class="auth_mail} ; Chester B. Whitley^an ; ^{whitley@umn.edu" class="auth_mail} ; Benjamin S. Wilfond^ar ; ^{benjamin.wilfond@seattlechildrens.org" class="auth_mail} ; Steven Yannicelli^as ; ^{steven.yannicelli@nutricia.com" class="auth_mail} ; Justin M. Young^at ; ^{jmichaelyoung@yahoo.com" class="auth_mail}

关键词：AAV ; adeno-associated virus ; ACMG ; American College of Medical Genetics and Genomics ; AHRQ ; Agency for Healthcare Research and Quality ; BH4 ; tetrahydrobiopterin ; BMD ; bone mineral density ; CDE ; Common Data Element ; CHD ; congenital heart disease ; CNS ; central nervous system ; COA ; clinical outcome assessment ; DXA ; dual-energy X-ray absorptiometry ; DHA ; docosahexaenoic acid ; DHPR ; dihydropteridine reductase ; DRI ; Dietary Reference Intake ; EPC ; Evidence-based Practice Center ; FDA ; U.S. Food and Drug

刊名：Molecular Genetics and Metabolism

出版年：June 2014

作者：Yuval E. L ; au ; Uta Lichter-Konecki ; Harvey L. Levy

关键词：ACMG ; American College of Medical Genetics ; NGS ; Next-generation sequencing ; PCR ; Polymerase chain reaction ; PKU ; Phenylketonuria ; VLCAD ; Very long chain acyl-CoA dehydrogenase ; VUS ; Variants of unknown significance ; WES ; Whole exome sequencing ; WGS ; Whole genome sequencing

刊名：The Journal of Pediatrics

出版年：January, 2014

作者：Gail P. Jarvik¹ ; ² ; ^{pair@u.washington.edu" class="auth_mail} ; Laura M. Amendola¹ ; Jonathan S. Berg³ ; Kyle Brothers⁴ ; ⁵ ; Ellen W. Clayton⁶ ; Wendy Chung⁷ ; Barbara J. Evans⁸ ; James P. Evans³ ; Stephanie M. Fullerton⁹ ; Carlos J. Gallego¹ ; Nanibaa&rsquo ; A. Garrison⁶ ; Stacy W. Gray¹⁰ ; ¹¹ ; Ingrid A. Holm¹² ; ¹³ ; ¹⁴ ; Iftikhar J. Kullo¹⁵ ; Lisa Soleymani Lehmann¹⁰ ; Cathy McCarty¹⁶ ; Cynthia A. Prows¹⁷ ; Heidi L. Rehm¹⁰ ; Richard R. Sharp¹⁸ ; Joseph Salama¹ ; Saskia Sanderson¹⁹ ; Sara L. Van Driest⁶ ; Marc S. Williams²⁰ ; Susan M. Wolf²¹ ; Wendy A. Wolf¹² ; ¹⁴ ; eMERGE Act-ROR Committee ; CERC Committee ; John Harley ; Melanie Myers ; Bahram Namjou ; Sander Vinks ; John Connolly ; Brendan Keating ; Glenn Gerhard ; Agnes Sundaresan ; Gerard Tromp ; David Crosslin ; Kathy Leppig ; Cathy Wicklund ; Christopher Chute ; John Lynch ; Mariza De Andrade ; John Heit ; Jen McCormick ; Murray Brilliant ; Terrie Kitchner ; Marylyn Ritchie ; Erwin Bö ; ttinger ; Inga Peter ; Stephen Persell ; Laura Rasmussen-Torvik ; Tracy McGregor ; Dan Roden ; Armand Antommaria ; Rosetta Chiavacci ; Andy Faucett ; David Ledbetter ; Janet Williams ; Andrea Hartzler ; Carolyn R. Rohrer Vitek ; Norm Frost ; Kadija Ferryman ; Carol Horowitz ; Rosamond Rhodes ; Randi Zinberg ; Sharon Aufox ; Vivian Pan ; Rochelle Long ; Erin Ramos ; Jackie Odgis ; Anastasia Wise ; Sara Hull ; Jonathan Gitlin

刊名：The American Journal of Human Genetics

出版年：5 June 2014