Showing 1–25 of 25 results
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Amendments and Corrections | | Open
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Research |
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
- Gregory Costain
- , Bert Callewaert
- , Heinz Gabriel
- , Tiong Y. Tan
- , Susan Walker
- , John Christodoulou
- , Tamas Lazar
- , Björn Menten
- , Julia Orkin
- , Simon Sadedin
- , Meaghan Snell
- , Arnaud Vanlander
- , Sarah Vergult
- , Susan M. White
- , Stephen W. Scherer
- , Robin Z. Hayeems
- , Susan Blaser
- , Shoshana J. Wodak
- , David Chitayat
- , Christian R. Marshall
- & M. Stephen Meyn
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Research | | Open
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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
- Nina De Rocker
- , Sarah Vergult
- , David Koolen
- , Eva Jacobs
- , Alexander Hoischen
- , Susan Zeesman
- , Birgitte Bang
- , Frédérique Béna
- , Nele Bockaert
- , Ernie M. Bongers
- , Thomy de Ravel
- , Koenraad Devriendt
- , Sabrina Giglio
- , Laurence Faivre
- , Shelagh Joss
- , Saskia Maas
- , Nathalie Marle
- , Francesca Novara
- , Malgorzata J.M. Nowaczyk
- , Hilde Peeters
- , Abeltje Polstra
- , Filip Roelens
- , Carla Rosenberg
- , Julien Thevenon
- , Zeynep Tümer
- , Suzanne Vanhauwaert
- , Konstantinos Varvagiannis
- , Andy Willaert
- , Marjolein Willemsen
- , Marjolaine Willems
- , Orsetta Zuffardi
- , Paul Coucke
- , Frank Speleman
- , Evan E. Eichler
- , Tjitske Kleefstra
- & Björn Menten
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Research | | Open
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A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors
- Paul Daniel Brady
- , Barbara Delle Chiaie
- , Gabrielle Christenhusz
- , Kris Dierickx
- , Kris Van Den Bogaert
- , Bjorn Menten
- , Sandra Janssens
- , Paul Defoort
- , Ellen Roets
- , Elke Sleurs
- , Kathelijn Keymolen
- , Luc De Catte
- , Jan Deprest
- , Thomy de Ravel
- , Hilde Van Esch
- , Jean Pierre Fryns
- , Koenraad Devriendt
- & Joris Robert Vermeesch
Genetics in Medicine 16 , 469–476 -
Research |
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
- Jan Hellemans
- , Olena Preobrazhenska
- , Andy Willaert
- , Philippe Debeer
- , Peter C M Verdonk
- , Teresa Costa
- , Katrien Janssens
- , Bjorn Menten
- , Nadine Van Roy
- , Stefan J T Vermeulen
- , Ravi Savarirayan
- , Wim Van Hul
- , Filip Vanhoenacker
- , Danny Huylebroeck
- , Anne De Paepe
- , Jean-Marie Naeyaert
- , Jo Vandesompele
- , Frank Speleman
- , Kristin Verschueren
- , Paul J Coucke
- & Geert R Mortier
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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
- M. Felicia Basilicata
- , Ange-Line Bruel
- , Giuseppe Semplicio
- , Claudia Isabelle Keller Valsecchi
- , Tuğçe Aktaş
- , Yannis Duffourd
- , Tobias Rumpf
- , Jenny Morton
- , Iben Bache
- , Witold G. Szymanski
- , Christian Gilissen
- , Olivier Vanakker
- , Katrin Õunap
- , Gerhard Mittler
- , Ineke van der Burgt
- , Salima El Chehadeh
- , Megan T. Cho
- , Rolph Pfundt
- , Tiong Yang Tan
- , Maria Kirchhoff
- , Björn Menten
- , Sarah Vergult
- , Kristin Lindstrom
- , André Reis
- , Diana S. Johnson
- , Alan Fryer
- , Victoria McKay
- , Richard B. Fisher
- , Christel Thauvin-Robinet
- , David Francis
- , Tony Roscioli
- , Sander Pajusalu
- , Kelly Radtke
- , Jaya Ganesh
- , Han G. Brunner
- , Meredith Wilson
- , Laurence Faivre
- , Vera M. Kalscheuer
- , Julien Thevenon
- & Asifa Akhtar
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Research |
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
- Daniela A Braun
- , Jia Rao
- , Geraldine Mollet
- , David Schapiro
- , Marie-Claire Daugeron
- , Weizhen Tan
- , Olivier Gribouval
- , Olivia Boyer
- , Patrick Revy
- , Tilman Jobst-Schwan
- , Johanna Magdalena Schmidt
- , Jennifer A Lawson
- , Denny Schanze
- , Shazia Ashraf
- , Jeremy F P Ullmann
- , Charlotte A Hoogstraten
- , Nathalie Boddaert
- , Bruno Collinet
- , Gaëlle Martin
- , Dominique Liger
- , Svjetlana Lovric
- , Monica Furlano
- , I Chiara Guerrera
- , Oraly Sanchez-Ferras
- , Jennifer F Hu
- , Anne-Claire Boschat
- , Sylvia Sanquer
- , Björn Menten
- , Sarah Vergult
- , Nina De Rocker
- , Merlin Airik
- , Tobias Hermle
- , Shirlee Shril
- , Eugen Widmeier
- , Heon Yung Gee
- , Won-Il Choi
- , Carolin E Sadowski
- , Werner L Pabst
- , Jillian K Warejko
- , Ankana Daga
- , Tamara Basta
- , Verena Matejas
- , Karin Scharmann
- , Sandra D Kienast
- , Babak Behnam
- , Brendan Beeson
- , Amber Begtrup
- , Malcolm Bruce
- , Gaik-Siew Ch'ng
- , 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 Okashah Littlejohn
- , Amira Masri
- , Mastaneh Moghtaderi
- , Kazuyuki Nakamura
- , Fatih Ozaltin
- , Marleen Praet
- , Chitra Prasad
- , Agnieszka Prytula
- , Elizabeth R 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
- , Rezan Topaloglu
- , Udo Vester
- , David H Viskochil
- , Nithiwat Vatanavicharn
- , Jessica L Waxler
- , Klaas J Wierenga
- , Matthias T F Wolf
- , Sik-Nin Wong
- , Sebastian A Leidel
- , Gessica Truglio
- , Peter C Dedon
- , Annapurna Poduri
- , Shrikant Mane
- , Richard P Lifton
- , Maxime Bouchard
- , Peter Kannu
- , David Chitayat
- , Daniella Magen
- , Bert Callewaert
- , Herman van Tilbeurgh
- , Martin Zenker
- , Corinne Antignac
- & Friedhelm Hildebrandt
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Research | | Open
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Research | | Open
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
- M N Loviglio
- , M Leleu
- , K Männik
- , M Passeggeri
- , G Giannuzzi
- , I van der Werf
- , S M Waszak
- , M Zazhytska
- , I Roberts-Caldeira
- , N Gheldof
- , E Migliavacca
- , A A Alfaiz
- , L Hippolyte
- , A M Maillard
- , Maria Nicla Loviglio
- , Katrin Männik
- , Ilse van der Werf
- , Giuliana Giannuzzi
- , Marianna Zazhytska
- , Nele Gheldof
- , Eugenia Migliavacca
- , Ali A Alfaiz
- , Inês Roberts-Caldeira
- , Loyse Hippolyte
- , Anne M Maillard
- , Alessandra Ferrarini
- , Florence Niel Butschi
- , Bernard Conrad
- , Marie-Claude Addor
- , Marco Belfiore
- , Katharina Roetzer
- , Anke Van Dijck
- , Bettina Blaumeiser
- , Frank Kooy
- , Filip Roelens
- , Annelies Dheedene
- , Barbara Delle Chiaie
- , Björn Menten
- , Ann Oostra
- , Jean-Hubert Caberg
- , Melissa Carter
- , Barbara Kellam
- , Dimitri J Stavropoulos
- , Christian Marshall
- , Stephen W Scherer
- , Rosanna Weksberg
- , Cheryl Cytrynbaum
- , Anne Bassett
- , Chelsea Lowther
- , Jane Gillis
- , Sara MacKay
- , Iben Bache
- , Lilian B Ousager
- , Maja Patricia Smerdel
- , Jesper Graakjaer
- , Susanne Kjaergaard
- , Andres Metspalu
- , Michele Mathieu
- , Dominique Bonneau
- , Agnes Guichet
- , Philippe Parent
- , Claude Férec
- , Marion Gerard
- , Ghislaine Plessis
- , James Lespinasse
- , Alice Masurel
- , Nathalie Marle
- , Laurence Faivre
- , Patrick Callier
- , Valerie Layet
- , Nathalie Le Meur
- , Céline Le Goff
- , Bénédicte Duban-Bedu
- , Sylvie Sukno
- , Odile Boute
- , Joris Andrieux
- , Patricia Blanchet
- , David Geneviève
- , Jacques Puechberty
- , Anouck Schneider
- , Bruno Leheup
- , Philippe Jonveaux
- , Sandra Mercier
- , Albert David
- , Cédric Le Caignec
- , Loic de Pontual
- , Eva Pipiras
- , Aurelia Jacquette
- , Boris Keren
- , Brigitte Gilbert-Dussardier
- , Frederic Bilan
- , Alice Goldenberg
- , Pascal Chambon
- , Annick Toutain
- , Marianne Till
- , Damien Sanlaville
- , Barbara Leube
- , Brigitte Royer-Pokora
- , Hans Jörgen Grabe
- , Carsten Oliver Schmidt
- , Claudia Schurmann
- , Georg Homuth
- , Gudmar Thorleifsson
- , Unnur Thorsteinsdottir
- , Laura Bernardini
- , Antonio Novelli
- , Lucia Micale
- , Giuseppe Merla
- , Marcella Zollino
- , Francesca Mari
- , Caterina Lo Rizzo
- , Alessandra Renieri
- , Margherita Silengo
- , Anneke T Vulto-van Silfhout
- , Meyke Schouten
- , Rolph Pfundt
- , Nicole de Leeuw
- , Fleur Vansenne
- , Saskia M Maas
- , Daniela QCM Barge-Schaapveld
- , Alida C Knegt
- , Barbro Stadheim
- , Olaug Rodningen
- , Gunnar Houge
- , Sue Price
- , Lara Hawkes
- , Carolyn Campbell
- , Usha Kini
- , Julie Vogt
- , Robin Walters
- , Alexandra Blakemore
- , James F Gusella
- , Yiping Shen
- , Daryl Scott
- , Carlos A Bacino
- , Karen Tsuchiya
- , Roger Ladda
- , Susan Sell
- , Alexander Asamoah
- , Aline I Hamati
- , Jill A Rosenfeld
- , Lisa G Shaffer
- , Elyse Mitchell
- , Jennelle C Hodge
- , Jacques S Beckmann
- , Sébastien Jacquemont
- , Alexandre Reymond
- , Alexandre Reymond
- , Lisa J Ewans
- , David Mowat
- , Jan Walker
- , David J Amor
- , Hilde Van Esch
- , Patricia Leroy
- , Jean-Hubert Caberg
- , John-Steven Bamforth
- , Deepti Babu
- , Marianne Till
- , Damien Sanlaville
- , David Geneviève
- , Jacques Puechberty
- , Bertrand Isidor
- , Nataliya DiDonato
- , Karl Hackmann
- , Marzia Passeggeri
- , Arie van Haeringen
- , Jill A Rosenfeld
- , Lisa G Shaffer
- , Rosemarie Smith
- , Sara Ellingwood
- , Darren M Farber
- , Vinay Puri
- , Neda Zadeh
- , David D Weaver
- , Mandy Miller
- , Timothy Wilks
- , Carolina J Jorgez
- , DeeDee Lafayette
- , Sébastien Jacquemont
- , A Van Dijck
- , R F Kooy
- , D Sanlaville
- , J A Rosenfeld
- , L G Shaffer
- , J Andrieux
- , C Marshall
- , S W Scherer
- , Y Shen
- , J F Gusella
- , U Thorsteinsdottir
- , G Thorleifsson
- , E T Dermitzakis
- , B Deplancke
- , J S Beckmann
- , J Rougemont
- , S Jacquemont
- & A Reymond
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- Claire Redin
- , Harrison Brand
- , Ryan L Collins
- , Tammy Kammin
- , Elyse Mitchell
- , Jennelle C Hodge
- , Carrie Hanscom
- , Vamsee Pillalamarri
- , Catarina M Seabra
- , Mary-Alice Abbott
- , Omar A Abdul-Rahman
- , Erika Aberg
- , Rhett Adley
- , Sofia L Alcaraz-Estrada
- , Fowzan S Alkuraya
- , Yu An
- , Mary-Anne Anderson
- , Caroline Antolik
- , Kwame Anyane-Yeboa
- , Joan F Atkin
- , Tina Bartell
- , Jonathan A Bernstein
- , Elizabeth Beyer
- , Ian Blumenthal
- , Ernie M H F Bongers
- , Eva H Brilstra
- , Chester W Brown
- , Hennie T Brüggenwirth
- , Bert Callewaert
- , Colby Chiang
- , Ken Corning
- , Helen Cox
- , Edwin Cuppen
- , Benjamin B 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
- , Troy Gliem
- , Margo Grady
- , Brett H Graham
- , 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
- , Monika W Hubshman
- , A Micheil Innes
- , Mira Irons
- , Melita Irving
- , Jessie C Jacobsen
- , Sandra Janssens
- , Tamison Jewett
- , John P Johnson
- , Marjolijn C Jongmans
- , Stephen G Kahler
- , David A Koolen
- , Jerome Korzelius
- , Peter M Kroisel
- , Yves Lacassie
- , William Lawless
- , Emmanuelle Lemyre
- , Kathleen 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 L Marcelis
- , Lauren Margolin
- , Tamara Mason
- , Diane Masser-Frye
- , Michael W McClellan
- , Cinthya J Zepeda Mendoza
- , Björn Menten
- , Sjors Middelkamp
- , Liya R Mikami
- , Emily Moe
- , Shehla Mohammed
- , Tarja Mononen
- , Megan E Mortenson
- , Graciela Moya
- , Aggie W Nieuwint
- , Zehra Ordulu
- , Sandhya Parkash
- , Susan P Pauker
- , Shahrin Pereira
- , Danielle Perrin
- , Katy Phelan
- , Raul E Piña Aguilar
- , Pino J Poddighe
- , Giulia Pregno
- , Salmo Raskin
- , Linda Reis
- , William 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
- , Julia Tagoe
- , Joseph V Thakuria
- , Bregje W van Bon
- , Jiddeke van de Kamp
- , Ineke van Der Burgt
- , Ton van Essen
- , Conny M van Ravenswaaij-Arts
- , Markus J van Roosmalen
- , Sarah Vergult
- , Catharina M L Volker-Touw
- , Dorothy P Warburton
- , Matthew J Waterman
- , Susan Wiley
- , Anna Wilson
- , Maria de la Concepcion A Yerena-de Vega
- , Roberto T Zori
- , Brynn Levy
- , Han G Brunner
- , Nicole de Leeuw
- , Wigard P Kloosterman
- , Erik C Thorland
- , Cynthia C Morton
- , James F Gusella
- & Michael E Talkowski
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Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations
- Sarah Vergult
- , Ellen Van Binsbergen
- , Tom Sante
- , Silke Nowak
- , Olivier Vanakker
- , Kathleen Claes
- , Bruce Poppe
- , Nathalie Van der Aa
- , Markus J van Roosmalen
- , Karen Duran
- , Masoumeh Tavakoli-Yaraki
- , Marielle Swinkels
- , Marie-José van den Boogaard
- , Mieke van Haelst
- , Filip Roelens
- , Frank Speleman
- , Edwin Cuppen
- , Geert Mortier
- , Wigard P Kloosterman
- & Björn Menten
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Research |
Redefining the MED13L syndrome
- Abidemi Adegbola
- , Luciana Musante
- , Bert Callewaert
- , Patricia Maciel
- , Hao Hu
- , Bertrand Isidor
- , Sylvie Picker-Minh
- , Cedric Le Caignec
- , Barbara Delle Chiaie
- , Olivier Vanakker
- , Björn Menten
- , Annelies Dheedene
- , Nele Bockaert
- , Filip Roelens
- , Karin Decaestecker
- , João Silva
- , Gabriela Soares
- , Fátima Lopes
- , Hossein Najmabadi
- , Kimia Kahrizi
- , Gerald F Cox
- , Steven P Angus
- , John F Staropoli
- , Ute Fischer
- , Vanessa Suckow
- , Oliver Bartsch
- , Andrew Chess
- , Hans-Hilger Ropers
- , Thomas F Wienker
- , Christoph Hübner
- , Angela M Kaindl
- & Vera M Kalscheuer
