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Sarah Vergult
Researcher at Ghent University
Publications - 52
Citations - 1832
Sarah Vergult is an academic researcher from Ghent University. The author has contributed to research in topics: Gene & Intellectual disability. The author has an hindex of 19, co-authored 45 publications receiving 1480 citations. Previous affiliations of Sarah Vergult include Ghent University Hospital.
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Journal ArticleDOI
The need for transparency and good practices in the qPCR literature
Stephen A. Bustin,Vladimir Benes,Jeremy A. Garson,Jan Hellemans,Jim F. Huggett,Mikael Kubista,Reinhold Mueller,Tania Nolan,Michael W. Pfaffl,Gregory L. Shipley,Carl T. Wittwer,Peter Schjerling,Philip J. R. Day,Mónica Abreu,Begoña Aguado,Jean-François Beaulieu,Anneleen Beckers,Sara Bogaert,John A. Browne,Fernando Carrasco-Ramiro,Liesbeth Ceelen,Kate L. Ciborowski,Pieter Cornillie,Stephanie Coulon,Ann Cuypers,Sara De Brouwer,Leentje De Ceuninck,Jurgen De Craene,Hélène De Naeyer,Ward De Spiegelaere,Kato Deckers,Annelies Dheedene,Kaat Durinck,Margarida Ferreira-Teixeira,Annelies Fieuw,Jack M. Gallup,Sandra Gonzalo-Flores,Karen Goossens,Femke Heindryckx,Elizabeth Herring,Hans Hoenicka,Laura Icardi,Rolf Jaggi,Farzad Javad,Michael Karampelias,Frederick S. B. Kibenge,Molly J. T. Kibenge,Candy Kumps,Irina Lambertz,Tim Lammens,Amelia Markey,Peter Messiaen,Evelien Mets,Sofia Morais,Alberto Mudarra-Rubio,Justine K. Nakiwala,Hilde Nelis,Pål A. Olsvik,Claudina Perez-Novo,Michelle Plusquin,Tony Remans,Ali Rihani,Paulo Rodrigues-Santos,Pieter Rondou,Rebecca Sanders,Katharina Schmidt-Bleek,Kerstin Skovgaard,Karen Smeets,Laura Tabera,Stefan Toegel,Tim Van Acker,Wim Van den Broeck,Joni Van der Meulen,Mireille Van Gele,Gert Van Peer,Mario Van Poucke,Nadine Van Roy,Sarah Vergult,Joris Wauman,Marina Tshuikina-Wiklander,Erik Willems,Sara Zaccara,Fjoralba Zeka,Jo Vandesompele +83 more
TL;DR: Two surveys of over 1,700 publications whose authors use quantitative real-time PCR (qPCR) reveal a lack of transparent and comprehensive reporting of essential technical information.
Journal ArticleDOI
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Claire Redin,Claire Redin,Harrison Brand,Harrison Brand,Ryan L. Collins,Ryan L. Collins,Tammy Kammin,Elyse Mitchell,Jennelle C. Hodge,Jennelle C. Hodge,Jennelle C. Hodge,Carrie Hanscom,Carrie Hanscom,Vamsee Pillalamarri,Vamsee Pillalamarri,Catarina M. Seabra,Catarina M. Seabra,Catarina M. Seabra,Mary-Alice Abbott,Omar A. Abdul-Rahman,Erika Aberg,Rhett Adley,Sofia L. Alcaraz-Estrada,Fowzan S. Alkuraya,Yu An,Yu An,Mary-Anne Anderson,Caroline Antolik,Caroline Antolik,Kwame Anyane-Yeboa,Joan F. Atkin,Joan F. Atkin,Tina M. Bartell,Jonathan A. Bernstein,Elizabeth Beyer,Elizabeth Beyer,Ian Blumenthal,Ernie M.H.F. Bongers,Eva H. Brilstra,Chester W. Brown,Chester W. Brown,Hennie T. Brüggenwirth,Bert Callewaert,Colby Chiang,Ken Corning,Helen Cox,Edwin Cuppen,Benjamin Currall,Tom Cushing,Dezso David,Matthew A. Deardorff,Annelies Dheedene,Marc D'Hooghe,Bert B.A. de Vries,Dawn L. Earl,Heather L. Ferguson,Heather Fisher,David R. FitzPatrick,Pamela Gerrol,Daniela Giachino,Joseph T. Glessner,Joseph T. Glessner,Troy J. Gliem,Margo Grady,Brett H. Graham,Cristin Griffis,Cristin Griffis,Karen W. Gripp,Andrea L. Gropman,Andrea Hanson-Kahn,David J. Harris,Mark A. Hayden,Rosamund Hill,Ron Hochstenbach,Jodi D. Hoffman,Robert J. Hopkin,Robert J. Hopkin,Monika Weisz Hubshman,Monika Weisz Hubshman,A. Micheil Innes,Mira Irons,Melita Irving,Jessie C. Jacobsen,Sandra Janssens,Tamison Jewett,John P. Johnson,Marjolijn C.J. Jongmans,Stephen G. Kahler,David A. Koolen,Jerome Korzelius,Peter M. Kroisel,Yves Lacassie,William Lawless,Emmanuelle Lemyre,Kathleen A. Leppig,Kathleen A. Leppig,Alex V. Levin,Haibo Li,Hong Li,Eric C. Liao,Cynthia Lim,Edward J. Lose,Diane Lucente,Michael J. Macera,Poornima Manavalan,Giorgia Mandrile,Carlo Marcelis,Lauren Margolin,Tamara Mason,Diane Masser-Frye,Michael W. McClellan,Cinthya J Zepeda Mendoza,Björn Menten,Sjors Middelkamp,Liya R Mikami,Emily Moe,Emily Moe,Shehla Mohammed,Tarja Mononen,Megan Mortenson,Megan Mortenson,Graciela Moya,Aggie W. M. Nieuwint,Zehra Ordulu,Sandhya Parkash,Sandhya Parkash,Susan P. Pauker,Shahrin Pereira,Danielle Perrin,Katy Phelan,Raul Eduardo Pina Aguilar,Pino J. Poddighe,Giulia Pregno,Salmo Raskin,Linda M. Reis,Linda M. Reis,William J. Rhead,William J. Rhead,Debra Rita,Ivo Renkens,Filip Roelens,Jayla Ruliera,Patrick Rump,Samantha L.P. Schilit,Ranad Shaheen,Rebecca Sparkes,Erica Spiegel,Blair Stevens,Matthew R. Stone,Matthew R. Stone,Julia Tagoe,Joseph V. Thakuria,Bregje W.M. van Bon,Jiddeke M. van de Kamp,Ineke van der Burgt,Ton van Essen,Conny M. A. van Ravenswaaij-Arts,Markus J. van Roosmalen,Sarah Vergult,Catharina M L Volker-Touw,Dorothy Warburton,Matthew J. Waterman,Matthew J. Waterman,Susan Wiley,Anna Wilson,Maria de la Concepcion A Yerena-de Vega,Roberto T. Zori,Brynn Levy,Han G. Brunner,Han G. Brunner,Nicole de Leeuw,Wigard P. Kloosterman,Erik C. Thorland,Cynthia C. Morton,Cynthia C. Morton,Cynthia C. Morton,James F. Gusella,James F. Gusella,Michael E. Talkowski,Michael E. Talkowski +179 more
TL;DR: It is proposed that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.
Journal ArticleDOI
Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms
Wigard P. Kloosterman,Masoumeh Tavakoli-Yaraki,Markus J. van Roosmalen,Ellen van Binsbergen,Ivo Renkens,Karen Duran,Lucia Ballarati,Sarah Vergult,Daniela Giardino,Kerstin Hansson,Claudia A. L. Ruivenkamp,Myrthe Jager,Arie van Haeringen,Elly F. Ippel,Thomas Haaf,Eberhard Passarge,Ron Hochstenbach,Björn Menten,Lidia Larizza,Victor Guryev,Martin Poot,Edwin Cuppen +21 more
TL;DR: Analysis of the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two breakpoints finds that eight of them contain hallmarks of multiple clustered double-stranded DNA breaks (DSBs) on one or more chromosomes.
Journal ArticleDOI
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Daniela A. Braun,Jia Rao,Géraldine Mollet,Géraldine Mollet,David Schapiro,Marie Claire Daugeron,Weizhen Tan,Olivier Gribouval,Olivier Gribouval,Olivia Boyer,Olivia Boyer,Patrick Revy,Patrick Revy,Tilman Jobst-Schwan,Johanna Magdalena Schmidt,Jennifer A. Lawson,Denny Schanze,Shazia Ashraf,Jeremy F.P. Ullmann,Charlotte A. Hoogstraten,Nathalie Boddaert,Nathalie Boddaert,Bruno Collinet,Bruno Collinet,Gaëlle H. Martin,Gaëlle H. Martin,Dominique Liger,Svjetlana Lovric,Mónica Furlano,Mónica Furlano,Mónica Furlano,I. Chiara Guerrera,Oraly Sanchez-Ferras,Jennifer Hu,Anne Claire Boschat,Sylvia Sanquer,Björn Menten,Sarah Vergult,Nina De Rocker,Merlin Airik,Tobias Hermle,Shirlee Shril,Eugen Widmeier,Eugen Widmeier,Heon Yung Gee,Heon Yung Gee,Won-Il Choi,Carolin E. Sadowski,Werner L. Pabst,Jillian K. Warejko,Ankana Daga,Tamara Basta,Verena Matejas,Karin Scharmann,Karin Scharmann,Sandra D. Kienast,Sandra D. Kienast,Babak Behnam,Babak Behnam,Brendan Beeson,Amber Begtrup,Malcolm Bruce,Gaik Siew Ch’ng,Shuan-Pei Lin,Shuan-Pei Lin,Jui Hsing Chang,Chao Huei Chen,Megan T. Cho,Patrick M. Gaffney,Patrick E. Gipson,Chyong Hsin Hsu,Jameela A. Kari,Yu Yuan Ke,Cathy Kiraly-Borri,Wai Ming Lai,Emmanuelle Lemyre,Rebecca O. Littlejohn,Amira Masri,Mastaneh Moghtaderi,Kazuyuki Nakamura,Fatih Ozaltin,Marleen Praet,Chitra Prasad,Agnieszka Prytuła,Elizabeth Roeder,Patrick Rump,Rhonda E. Schnur,Takashi Shiihara,Manish D. Sinha,Neveen A. Soliman,Kenza Soulami,David A. Sweetser,Wen Hui Tsai,Jeng Daw Tsai,Jeng Daw Tsai,Jeng Daw Tsai,Rezan Topaloglu,Udo Vester,David Viskochil,Nithiwat Vatanavicharn,Jessica L. Waxler,Klaas J. Wierenga,Matthias T.F. Wolf,Sik Nin Wong,Sebastian A. Leidel,Sebastian A. Leidel,Gessica Truglio,Peter C. Dedon,Peter C. Dedon,Annapurna Poduri,Shrikant Mane,Richard P. Lifton,Richard P. Lifton,Maxime Bouchard,Peter Kannu,David Chitayat,Daniella Magen,Bert Callewaert,Herman van Tilbeurgh,Martin Zenker,Corinne Antignac,Corinne Antignac,Friedhelm Hildebrandt +122 more
TL;DR: Four new monogenic causes of GAMOS are identified, a link between KEOPS function and human disease is described, and potential pathogenic mechanisms are delineated.
Journal ArticleDOI
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Gea Beunders,Els Voorhoeve,Christelle Golzio,Luba M. Pardo,Jill A. Rosenfeld,Michael E. Talkowski,Michael E. Talkowski,Ingrid Simonic,Anath C. Lionel,Anath C. Lionel,Sarah Vergult,Robert E. Pyatt,Robert E. Pyatt,Jiddeke M. van de Kamp,Aggie W. M. Nieuwint,Marjan M. Weiss,Patrizia Rizzu,Lucilla E.N.I. Verwer,Rosalina M. L. van Spaendonk,Yiping Shen,Yiping Shen,Yiping Shen,Bai-Lin Wu,Bai-Lin Wu,Tingting Yu,Tingting Yu,Yongguo Yu,Yongguo Yu,Colby Chiang,James F. Gusella,James F. Gusella,Amelia M. Lindgren,Amelia M. Lindgren,Cynthia C. Morton,Cynthia C. Morton,Cynthia C. Morton,Ellen van Binsbergen,Saskia Bulk,Els Van Rossem,Olivier Vanakker,Ruth Armstrong,Soo Mi Park,Lynn Greenhalgh,Una Maye,Nicholas J. Neill,Kristin M. Abbott,Susan Sell,Roger L. Ladda,Darren Farber,Patricia I. Bader,Tom Cushing,Joanne M. Drautz,Laura Konczal,Patricia L. Nash,Emily de los Reyes,Melissa T. Carter,Elizabeth Hopkins,Christian R. Marshall,Christian R. Marshall,Lucy R. Osborne,Karen W. Gripp,Devon Lamb Thrush,Devon Lamb Thrush,Sayaka Hashimoto,Julie M. Gastier-Foster,Julie M. Gastier-Foster,Caroline Astbury,Caroline Astbury,Bauke Ylstra,Hanne Meijers-Heijboer,Danielle Posthuma,Danielle Posthuma,Danielle Posthuma,Björn Menten,Geert Mortier,Stephen W. Scherer,Stephen W. Scherer,Evan E. Eichler,Santhosh Girirajan,Santhosh Girirajan,Nicholas Katsanis,Alexander J. Groffen,Alexander J. Groffen,Erik A. Sistermans +83 more
TL;DR: The observations demonstrate a causal role of AUTS2 in neurocognitive disorders, establish a hitherto unappreciated syndromic phenotype at this locus, and show how transcriptional complexity can underpin human pathology.