References
Jan 13, 2000·Annals of Neurology·R GuerriniR J Gibbons
May 20, 2003·Human Mutation·Peter D StensonDavid N Cooper
Oct 31, 2003·Gene·Simon Holden, F Lucy Raymond
Jan 31, 2004·Bioinformatics·Robert J CliffordKenneth H Buetow
Nov 15, 2006·Clinical Genetics·M FieldG Turner
Nov 15, 2006·Mutation Research·Stephan Morgenthaler, William G Thilly
May 24, 2008·Clinical Genetics·Y QiaoM E S Lewis
Apr 21, 2009·Nature Genetics·Patrick S TarpeyMichael R Stratton
Jun 30, 2009·Nature Protocols·Prateek KumarPauline C Ng
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Jun 22, 2010·Bioinformatics·William McLarenFiona Cunningham
Sep 3, 2010·Nature·UNKNOWN International HapMap 3 ConsortiumJean E McEwen
Sep 9, 2010·Annual Review of Genomics and Human Genetics·Hans Hilger Ropers
Nov 16, 2010·Nature Genetics·Lisenka E L M VissersJoris A Veltman
Apr 5, 2011·American Journal of Human Genetics·Abel González-Pérez, Nuria López-Bigas
Aug 16, 2011·Nature Genetics·Gregory M CooperEvan E Eichler
Sep 23, 2011·Nature·Hossein NajmabadiH Hilger Ropers
Mar 13, 2012·American Journal of Human Genetics·Juliane HoyerAndré Reis
Mar 20, 2012·Nature Genetics·Gijs W E SantenMarjolein Kriek
May 1, 2012·Neuron·Ivan IossifovMichael Wigler
May 19, 2012·Science·Jacob A TennessenUNKNOWN NHLBI Exome Sequencing Project
Jun 13, 2012·Nucleic Acids Research·Ngak-Leng SimPauline C Ng
Oct 2, 2012·Lancet·Anita RauchTim M Strom
Oct 5, 2012·The New England Journal of Medicine·Joep de LigtLisenka E L M Vissers
Oct 13, 2012·Bioinformatics·Xiuwen ZhengBruce S Weir
Dec 12, 2012·American Journal of Human Genetics·Yali XueUNKNOWN 1000 Genomes Project Consortium
Apr 18, 2013·PLoS Genetics·Li LiuKathryn Roeder
Aug 10, 2013·Human Mutation·Gijs W E SantenMartine J van Belzen
Aug 31, 2013·PLoS Genetics·Slavé PetrovskiDavid B Goldstein
Oct 1, 2013·Human Genetics·Peter D StensonDavid N Cooper
Nov 2, 2013·Trends in Genetics : TIG·Luciana Musante, H Hilger Ropers
Feb 4, 2014·Nature Genetics·Martin KircherJay Shendure
Apr 1, 2014·American Journal of Human Genetics·Detelina GrozevaF Lucy Raymond
Apr 17, 2014·European Journal of Human Genetics : EJHG·Sirisha PeddibhotlaSau W Cheung
Apr 25, 2014·Nature·D G MacArthurC Gunter
May 29, 2014·Nature Neuroscience·Alexander HoischenEvan E Eichler
Jun 5, 2014·Nature·Christian GilissenJoris A Veltman
Aug 5, 2014·American Journal of Human Genetics·Holly K TaborMichael J Bamshad
Aug 30, 2014·Journal of Medical Genetics·Claire RedinAmélie Piton
Sep 15, 2014·Nature Genetics·Bradley P CoeEvan E Eichler
Sep 27, 2014·American Journal of Medical Genetics. Part a·Veerle De WolfKoen Devriendt
Oct 19, 2014·JAMA : the Journal of the American Medical Association·Yaping YangChristine M Eng
Oct 31, 2014·PLoS Genetics·Fadi F HamdanJacques L Michaud
Dec 24, 2014·Nature·UNKNOWN Deciphering Developmental Disorders Study
Feb 17, 2015·Human Mutation·Dominik G GrimmKarsten M Borgwardt
Citations
Dec 23, 2015·Journal of Personalized Medicine·Kurt D ChristensenRobert C Green
Jan 11, 2016·American Journal of Human Genetics·Korinna KochinkeAnnette Schenck
Mar 18, 2016·Journal of Human Genetics·Daniela ZahorakovaPavel Martasek
Jul 5, 2016·American Journal of Medical Genetics. Part a·Krzysztof SzczałubaRafał Płoski
Feb 6, 2016·Archives of Disease in Childhood·Michael J ParkerMichael J Parker
May 10, 2016·Human Mutation·Nathalie FieremansGuy Froyen
Aug 26, 2016·Expert Review of Molecular Diagnostics·Chiara Bacchelli, Hywel J Williams
Sep 22, 2016·Molecular Genetics & Genomic Medicine·Carolien G F de KovelBobby P C Koeleman
Sep 13, 2016·American Journal of Human Genetics·Anide JohansenRami Abou Jamra
Aug 31, 2016·Expert Review of Molecular Diagnostics·Anna Maria PintoAlessandra Renieri
Jul 22, 2016·Journal of Medical Genetics·Mateja SmogavecChristiane Zweier
Dec 3, 2016·Nucleic Acids Research·Konrad J KarczewskiDaniel G MacArthur
Feb 9, 2017·European Journal of Human Genetics : EJHG·Angélique QuartierAmélie Piton
Apr 11, 2017·American Journal of Medical Genetics. Part a·Nobuhiko OkamotoKenjiro Kosaki
Mar 16, 2017·American Journal of Medical Genetics. Part a·Sureni V MullegamaJulian A Martinez-Agosto
Sep 14, 2016·Journal of Medical Genetics·Francisco MartínezCarmen Orellana
Feb 6, 2018·Nature Reviews. Genetics·Caroline F WrightHelen V Firth
Feb 28, 2018·Developmental Neurobiology·Isabella R FernandesAlysson R Muotri
Apr 11, 2018·Human Mutation·Marie-Laure VuillaumeAnnick Toutain
Feb 13, 2018·Frontiers in Genetics·Olatz VillateMaría-Isabel Tejada
Nov 2, 2017·Molecular Autism·Paige M SiperJoseph D Buxbaum
Nov 22, 2017·European Journal of Human Genetics : EJHG·Bernt PoppChristiane Zweier
Nov 28, 2017·American Journal of Medical Genetics. Part a·Adam F SitzmannMerlin G Butler
Mar 27, 2018·Clinical Genetics·S BaerG Morin
Jan 18, 2017·Disease Models & Mechanisms·Renee J TammingNathalie G Bérubé
Aug 10, 2018·PloS One·Laura GieldonAndreas Rump
May 10, 2017·Omics : a Journal of Integrative Biology·Babylakshmi MuthusamyHarsha Gowda
Apr 30, 2016·F1000Research·Pietro Chiurazzi, Filomena Pirozzi
Oct 26, 2018·Clinical Genetics·T Michael YatesDiana S Johnson
Jan 15, 2019·Investigative Ophthalmology & Visual Science·Wenmin SunQingjiong Zhang
Jan 10, 2019·Annals of Laboratory Medicine·Woori JangJoo Hyun Park
May 1, 2019·Annals of Laboratory Medicine·Gara Samara BrajadentaVincent Thoreau
Dec 7, 2017·European Journal of Human Genetics : EJHG·Sandra JansenBert B A de Vries
Mar 8, 2019·Journal of Medical Genetics·Yaser Rafiq Mir, Raja Amir Hassan Kuchay
Nov 14, 2019·Clinical Genetics·Laura AvaglianoValentina Massa
Nov 13, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Philip J OstrowskiKatrina Tatton-Brown
Oct 28, 2019·Human Genome Variation·Yuji NakamuraShinji Saitoh
Jul 13, 2019·Archives of Disease in Childhood·Michael Arribas-AyllonKatherine Shelton
Nov 23, 2019·Endocrine Reviews·Stefan GroenewegW Edward Visser
Oct 28, 2019·Wiley Interdisciplinary Reviews. RNA·Michael Robert Murphy, Frida Esther Kleiman
Sep 11, 2019·Cold Spring Harbor Perspectives in Medicine·Alison M Elliott
Dec 18, 2019·Médecine sciences : M/S·Arnold MunnichMoise Assouline
May 16, 2019·BMC Medical Genetics·Huifang YanJingmin Wang
Dec 7, 2017·Molecular Diagnosis & Therapy·Yonghong LiJames J Devlin
Feb 2, 2020·Journal of Medical Genetics·Xinran DongYulan Lu
Apr 27, 2020·Clinical Genetics·Ange-Line BruelChristel Thauvin-Robinet
Feb 7, 2020·Clinical and Experimental Pediatrics·Ji Yoon Han, In Goo Lee
Jul 18, 2020·Hemoglobin·Yuan ZhaoDong-Zhi Li
Aug 14, 2019·Molecular Autism·Arnold MunnichMoïse Assouline
Jul 2, 2016·Human Molecular Genetics·Surabi VeeraragavanRodney C Samaco