ProfileOfResearchers

TITLE: Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
AUTHORS: Sanchis Juan, Alba; Megy, Karyn; Stephens, Jonathan; Ricaurte, Camila Armirola; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E.; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J.; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C.; Gleadall, Nicholas; Duarte, Sofia T.; Hedrera Fernandez, Antonio; Vogt, Julie; Ambegaonkar, Gautam; Chitre, Manali; Josifova, Dragana; Kurian, Manju A.; Parker, Alasdair; Rankin, Julia; Reid, Evan; Wakeling, Emma; Wassmer, Evangeline; NIHR BioResource, F. Lucy; Raymond, F. Lucy; Carss, Keren J.; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 8

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TITLE: Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome Full Text
AUTHORS: Jeroen K J Van Houdt; Beata Anna Nowakowska; Sergio B Sousa; Barbera D C van Schaik; Eve Seuntjens; Nelson Avonce; Alejandro Sifrim; Omar A Abdul Rahman; Marie Jose H van den Boogaard; Armand Bottani; Marco Castori; Valerie Cormier Daire; Matthew A Deardorff; Isabel Filges; Alan Fryer; Jean Pierre Fryns; Simone Gana; Livia Garavelli; Gabriele Gillessen Kaesbach; Bryan D Hall; Denise Horn; Danny Huylebroeck; Jakub Klapecki; Malgorzata Krajewska Walasek; Alma Kuechler; Matthew A Lines; Saskia Maas; Kay D MacDermot; Shane McKee; Alex Magee; Stella A de Man; Yves Moreau; Fanny Morice Picard; Ewa Obersztyn; Jacek Pilch; Elizabeth Rosser; Nora Shannon; Irene Stolte Dijkstra; Patrick Van Dijck; Catheline Vilain; Annick Vogels; Emma Wakeling; Dagmar Wieczorek; Louise Wilson; Orsetta Zuffardi; Antoine H C van Kampen; Koenraad Devriendt; Raoul Hennekam; Joris Robert Vermeesch; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 4

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TITLE: Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Full Text
AUTHORS: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel Salem; Riyana Babul Hirji; Peter Baxter; Andrea Berger; Luisa Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; Wui K Chong; Duccio M Cordelli; Patrick Ferreira; Joel Fluss; Ewan H Forrest; Emilio Franzoni; Caterina Garone; Simon R Hammans; Gunnar Houge; Imelda Hughes; Sebastien Jacquemont; Pierre Yves Jeannet; Rosalind J Jefferson; Ram Kumar; Georg Kutschke; Staffan Lundberg; Charles M Lourenco; Ramesh Mehta; Sakkubai Naidu; Ken K Nischal; Luis Nunes; Katrin Ounap; Michel Philippart; Prab Prabhakar; Sarah R Risen; Raphael Schiffmann; Calvin Soh; John B P Stephenson; Helen Stewart; Jon Stone; John L Tolmie; Marjo S van der Knaap; Jose P Vieira; Catheline N Vilain; Emma L Wakeling; Vanessa Wermenbol; Andrea Whitney; Simon C Lovell; Stefan Meyer; John H Livingston; Gabriela M Baerlocher; Graeme C M Black; Gillian I Rice; Yanick J Crow; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 3

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TITLE: Nicolaides-Baraitser Syndrome: Delineation of the Phenotype Full Text
AUTHORS: Sergio B Sousa; Omar A Abdul Rahman; Armand Bottani; Valerie Cormier Daire; Alan Fryer; Gabriele Gillessen Kaesbach; Denise Horn; Dragana Josifova; Alma Kuechler; Melissa Lees; Kay MacDermot; Alex Magee; Fanny Morice Picard; Elizabeth Rosser; Ajoy Sarkar; Nora Shannon; Irene Stolte Dijkstra; Alain Verloes; Emma Wakeling; Louise Wilson; Raoul C M Hennekam; ...More
PUBLISHED: 2009, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 149A, ISSUE: 8

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