nature.com search

Loading Filters

Showing 1–14 of 14 results

Loading Filters

Research | 20 January 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
- Alison M. Muir
- , Jennifer F. Gardner
- , Richard H. van Jaarsveld
- , Iris M. de Lange
- , Jasper J. van der Smagt
- , Golder N. Wilson
- , Holly Dubbs
- , Ethan M. Goldberg
- , Lia Zitano
- , Caleb Bupp
- , Jose Martinez
- , Myriam Srour
- , Andrea Accogli
- , Afnan Alhakeem
- , Meira Meltzer
- , Andrea Gropman
- , Carole Brewer
- , Richard C. Caswell
- , Tara Montgomery
- , Caoimhe McKenna
- , Shane McKee
- , Corinna Powell
- , Pradeep C. Vasudevan
- , Angela F. Brady
- , Shelagh Joss
- , Carolyn Tysoe
- , Grace Noh
- , Mark Tarnopolsky
- , Lauren Brady
- , Muhammad Zafar
- , Samantha A. Schrier Vergano
- , Brianna Murray
- , Lindsey Sawyer
- , Bryan E. Hainline
- , Katherine Sapp
- , Danielle DeMarzo
- , Darcy J. Huismann
- , Ingrid M. Wentzensen
- , Rhonda E. Schnur
- , Kristin G. Monaghan
- , Jane Juusola
- , Lindsay Rhodes
- , William B. Dobyns
- , Francois Lecoquierre
- , Alice Goldenberg
- , Tilman Polster
- , Susanne Axer-Schaefer
- , Konrad Platzer
- , Chiara Klöckner
- , Trevor L. Hoffman
- , Daniel G. MacArthur
- , Melanie C. O’Leary
- , Grace E. VanNoy
- , Eleina England
- , Vinod C. Varghese
- & Heather C. Mefford
Genetics in Medicine , 1–7

Rights & permissionsfor article Variants in <i>GNAI1</i> cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia . Opens in a new window.
Research | 11 November 2020 | Open
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
- Theresa Brunet
- , Kirsty McWalter
- , Katharina Mayerhanser
- , Grace M. Anbouba
- , Amy Armstrong-Javors
- , Ingrid Bader
- , Evan Baugh
- , Amber Begtrup
- , Caleb P. Bupp
- , Bert L. Callewaert
- , Anna Cereda
- , Margot A. Cousin
- , Juan C. Del Rey Jimenez
- , Laurie Demmer
- , Nikita R. Dsouza
- , Nicole Fleischer
- , Ralitza H. Gavrilova
- , Sumedha Ghate
- , Elisabeth Graf
- , Andrew Green
- , Sarah R. Green
- , Maria Iascone
- , Ameni Kdissa
- , Dirk Klee
- , Eric W. Klee
- , Emily Lancaster
- , Kristin Lindstrom
- , Johannes A. Mayr
- , Meriel McEntagart
- , Naomi J. L. Meeks
- , Dana Mittag
- , Harrison Moore
- , Anne K. Olsen
- , Damara Ortiz
- , Gretchen Parsons
- , Loren D. M. Pena
- , Richard E. Person
- , Sumit Punj
- , Gonzalo Alonso Ramos-Rivera
- , Maria J. Guillen Sacoto
- , G. Bradley Schaefer
- , Rhonda E. Schnur
- , Tiana M. Scott
- , Daryl A. Scott
- , Carolyn R. Serbinski
- , Vandana Shashi
- , Victoria M. Siu
- , Barbro Fossøy Stadheim
- , Jennifer A. Sullivan
- , Jana Švantnerová
- , Lea Velsher
- , David S. Wargowski
- , Ingrid M. Wentzensen
- , Dagmar Wieczorek
- , Juliane Winkelmann
- , Patrick Yap
- , Michael Zech
- , Michael T. Zimmermann
- , Thomas Meitinger
- , Felix Distelmaier
- & Matias Wagner
Genetics in Medicine , 1–12

Rights & permissionsfor article Defining the genotypic and phenotypic spectrum of X-linked <i>MSL3</i>-related disorder . Opens in a new window.
Research | 28 October 2020 | Open
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities
- Lot Snijders Blok
- , Arianna Vino
- , Joery den Hoed
- , Hunter R. Underhill
- , Danielle Monteil
- , Hong Li
- , Francis Jeshira Reynoso Santos
- , Wendy K. Chung
- , Michelle D. Amaral
- , Rhonda E. Schnur
- , Teresa Santiago-Sim
- , Yue Si
- , Han G. Brunner
- , Tjitske Kleefstra
- & Simon E. Fisher
Genetics in Medicine , 1–9

Rights & permissionsfor article Heterozygous variants that disturb the transcriptional repressor activity of <i>FOXP4</i> cause a developmental disorder with speech/language delays and multiple congenital abnormalities . Opens in a new window.
Research | 5 May 2020 | Open
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
- Sakshi Singh
- , Aditi Gupta
- , Michael Zech
- , Ashley N. Sigafoos
- , Karl J. Clark
- , Yasemin Dincer
- , Matias Wagner
- , Jennifer B. Humberson
- , Sarah Green
- , Koen van Gassen
- , Tracy Brandt
- , Rhonda E. Schnur
- , Francisca Millan
- , Yue Si
- , Volker Mall
- , Juliane Winkelmann
- , Ralitza H. Gavrilova
- , Eric W. Klee
- , Kendra Engleman
- , Nicole P. Safina
- , Rachel Slaugh
- , Emily M. Bryant
- , Wen-Hann Tan
- , Jorge Granadillo
- , Sunita N. Misra
- , G. Bradley Schaefer
- , Shelley Towner
- , Eva H. Brilstra
- & Bobby P. C. Koeleman
Genetics in Medicine 22 , 1413–1417

Rights & permissionsfor article De novo variants of <i>NR4A2</i> are associated with neurodevelopmental disorder and epilepsy . Opens in a new window.
Research | 1 January 1995
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
Nature Genetics 9 , 92–95

Rights & permissionsfor article Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism . Opens in a new window.
Research | 3 October 2019
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
- Ash Zawerton
- , Cyril Mignot
- , Ashley Sigafoos
- , Patrick R. Blackburn
- , Abdul Haseeb
- , Kirsty McWalter
- , Shoji Ichikawa
- , Caroline Nava
- , Boris Keren
- , Perrine Charles
- , Isabelle Marey
- , Anne-Claude Tabet
- , Jonathan Levy
- , Laurence Perrin
- , Andreas Hartmann
- , Gaetan Lesca
- , Caroline Schluth-Bolard
- , Pauline Monin
- , Sophie Dupuis-Girod
- , Maria J. Guillen Sacoto
- , Rhonda E. Schnur
- , Zehua Zhu
- , Alice Poisson
- , Salima El Chehadeh
- , Yves Alembik
- , Ange-Line Bruel
- , Daphné Lehalle
- , Sophie Nambot
- , Sébastien Moutton
- , Sylvie Odent
- , Sylvie Jaillard
- , Christèle Dubourg
- , Yvonne Hilhorst-Hofstee
- , Tina Barbaro-Dieber
- , Lucia Ortega
- , Elizabeth J. Bhoj
- , Diane Masser-Frye
- , Lynne M. Bird
- , Kristin Lindstrom
- , Keri M. Ramsey
- , Vinodh Narayanan
- , Emily Fassi
- , Marcia Willing
- , Trevor Cole
- , Claire G. Salter
- , Rhoda Akilapa
- , Anthony Vandersteen
- , Natalie Canham
- , Patrick Rump
- , Erica H. Gerkes
- , Jolien S. Klein Wassink-Ruiter
- , Emilia Bijlsma
- , Mariëtte J. V. Hoffer
- , Marcelo Vargas
- , Antonina Wojcik
- , Florian Cherik
- , Christine Francannet
- , Jill A. Rosenfeld
- , Keren Machol
- , Daryl A. Scott
- , Carlos A. Bacino
- , Xia Wang
- , Gary D. Clark
- , Marta Bertoli
- , Simon Zwolinski
- , Rhys H. Thomas
- , Ela Akay
- , Richard C. Chang
- , Rebekah Bressi
- , Rossana Sanchez Russo
- , Myriam Srour
- , Laura Russell
- , Anne-Marie E. Goyette
- , Lucie Dupuis
- , Roberto Mendoza-Londono
- , Catherine Karimov
- , Maries Joseph
- , Mathilde Nizon
- , Benjamin Cogné
- , Alma Kuechler
- , Amélie Piton
- , Eric W. Klee
- , Véronique Lefebvre
- , Karl J. Clark
- & Christel Depienne
Genetics in Medicine 22 , 524–537

Rights & permissionsfor article Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to <i>SOX5</i> haploinsufficiency . Opens in a new window.
Amendments and Corrections | 2 May 2019 | Open
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , Jeremy F. McRae
- , Stephen Clayton
- , Tomas W. Fitzgerald
- , Joanna Kaplanis
- , Elena Prigmore
- , Diana Rajan
- , Alejandro Sifrim
- , Stuart Aitken
- , Nadia Akawi
- , Mohsan Alvi
- , Kirsty Ambridge
- , Daniel M. Barrett
- , Tanya Bayzetinova
- , Philip Jones
- , Wendy D. Jones
- , Daniel King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
Nature Communications 10 , 1–4

Rights & permissionsfor article Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language . Opens in a new window.
Research | 24 January 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
European Journal of Human Genetics 27 , 738–746

Rights & permissionsfor article De novo variants in <i>FBXO11</i> cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms . Opens in a new window.
Research | 8 January 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies
European Journal of Human Genetics 27 , 582–593

Rights & permissionsfor article Biallelic sequence variants in <i>INTS1</i> in patients with developmental delays, cataracts, and craniofacial anomalies . Opens in a new window.
Amendments and Corrections | 15 February 2019 | Open
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , Jeremy F. McRae
- , Stephen Clayton
- , Tomas W. Fitzgerald
- , Joanna Kaplanis
- , Elena Prigmore
- , Diana Rajan
- , Alejandro Sifrim
- , Stuart Aitken
- , Nadia Akawi
- , Mohsan Alvi
- , Kirsty Ambridge
- , Daniel M. Barrett
- , Tanya Bayzetinova
- , Philip Jones
- , Wendy D. Jones
- , Daniel King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
Nature Communications 10 , 1–4

Rights & permissionsfor article Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language . Opens in a new window.
Research | 6 February 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
- Thomas Besnard
- , Natacha Sloboda
- , Alice Goldenberg
- , Sébastien Küry
- , Benjamin Cogné
- , Flora Breheret
- , Eva Trochu
- , Solène Conrad
- , Marie Vincent
- , Wallid Deb
- , Xavier Balguerie
- , Sébastien Barbarot
- , Geneviève Baujat
- , Tawfeg Ben-Omran
- , Anne-Claire Bursztejn
- , Virginie Carmignac
- , Alexandre N. Datta
- , Aline Delignières
- , Laurence Faivre
- , Betty Gardie
- , Jean-Louis Guéant
- , Paul Kuentz
- , Marion Lenglet
- , Marie-Cécile Nassogne
- , Vincent Ramaekers
- , Rhonda E. Schnur
- , Yue Si
- , Erin Torti
- , Julien Thevenon
- , Pierre Vabres
- , Lionel Van Maldergem
- , Dorothea Wand
- , Arnaud Wiedemann
- , Bertrand Cariou
- , Richard Redon
- , Antonin Lamazière
- , Stéphane Bézieau
- , Francois Feillet
- & Bertrand Isidor
Genetics in Medicine 21 , 2025–2035

Rights & permissionsfor article Biallelic pathogenic variants in the lanosterol synthase gene <i>LSS</i> involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome . Opens in a new window.
Research | 11 April 2019
Variants in DOCK3 cause developmental delay and hypotonia
European Journal of Human Genetics 27 , 1225–1234

Rights & permissionsfor article Variants in <i>DOCK3</i> cause developmental delay and hypotonia . Opens in a new window.
Research | 5 November 2018 | Open
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
- Lot Snijders Blok
- , Justine Rousseau
- , Joanna Twist
- , Sophie Ehresmann
- , Motoki Takaku
- , Hanka Venselaar
- , Lance H. Rodan
- , Catherine B. Nowak
- , Jessica Douglas
- , Kathryn J. Swoboda
- , Marcie A. Steeves
- , Inderneel Sahai
- , Connie T. R. M. Stumpel
- , Alexander P. A. Stegmann
- , Patricia Wheeler
- , Marcia Willing
- , Elise Fiala
- , Aaina Kochhar
- , William T. Gibson
- , Ana S. A. Cohen
- , Ruky Agbahovbe
- , A. Micheil Innes
- , P. Y. Billie Au
- , Julia Rankin
- , Ilse J. Anderson
- , Steven A. Skinner
- , Raymond J. Louie
- , Hannah E. Warren
- , Alexandra Afenjar
- , Boris Keren
- , Caroline Nava
- , Julien Buratti
- , Arnaud Isapof
- , Diana Rodriguez
- , Raymond Lewandowski
- , Jennifer Propst
- , Ton van Essen
- , Murim Choi
- , Sangmoon Lee
- , Jong H. Chae
- , Susan Price
- , Rhonda E. Schnur
- , Ganka Douglas
- , Ingrid M. Wentzensen
- , Christiane Zweier
- , André Reis
- , Martin G. Bialer
- , Christine Moore
- , Marije Koopmans
- , Eva H. Brilstra
- , Glen R. Monroe
- , Koen L. I. van Gassen
- , Ellen van Binsbergen
- , Ruth Newbury-Ecob
- , Lucy Bownass
- , Ingrid Bader
- , Johannes A. Mayr
- , Saskia B. Wortmann
- , Kathy J. Jakielski
- , Edythe A. Strand
- , Katja Kloth
- , Tatjana Bierhals
- , Jeremy F. McRae
- , Stephen Clayton
- , Tomas W. Fitzgerald
- , Joanna Kaplanis
- , Elena Prigmore
- , Diana Rajan
- , Alejandro Sifrim
- , Stuart Aitken
- , Nadia Akawi
- , Mohsan Alvi
- , Kirsty Ambridge
- , Daniel M. Barrett
- , Tanya Bayzetinova
- , Philip Jones
- , Wendy D. Jones
- , Daniel King
- , Netravathi Krishnappa
- , Laura E. Mason
- , Tarjinder Singh
- , Adrian R. Tivey
- , Munaza Ahmed
- , Uruj Anjum
- , Hayley Archer
- , Ruth Armstrong
- , Jana Awada
- , Meena Balasubramanian
- , Siddharth Banka
- , Diana Baralle
- , Angela Barnicoat
- , Paul Batstone
- , David Baty
- , Chris Bennett
- , Jonathan Berg
- , Birgitta Bernhard
- , A. Paul Bevan
- , Maria Bitner-Glindzicz
- , Edward Blair
- , Moira Blyth
- , David Bohanna
- , Louise Bourdon
- , David Bourn
- , Lisa Bradley
- , Angela Brady
- , Simon Brent
- , Carole Brewer
- , Kate Brunstrom
- , David J. Bunyan
- , John Burn
- , Natalie Canham
- , Bruce Castle
- , Kate Chandler
- , Elena Chatzimichali
- , Deirdre Cilliers
- , Angus Clarke
- , Susan Clasper
- , Jill Clayton-Smith
- , Virginia Clowes
- , Andrea Coates
- , Trevor Cole
- , Irina Colgiu
- , Amanda Collins
- , Morag N. Collinson
- , Fiona Connell
- , Nicola Cooper
- , Helen Cox
- , Lara Cresswell
- , Gareth Cross
- , Yanick Crow
- , Mariella D’Alessandro
- , Tabib Dabir
- , Rosemarie Davidson
- , Sally Davies
- , Dylan de Vries
- , John Dean
- , Charu Deshpande
- , Gemma Devlin
- , Abhijit Dixit
- , Angus Dobbie
- , Alan Donaldson
- , Dian Donnai
- , Deirdre Donnelly
- , Carina Donnelly
- , Angela Douglas
- , Sofia Douzgou
- , Alexis Duncan
- , Jacqueline Eason
- , Sian Ellard
- , Ian Ellis
- , Frances Elmslie
- , Karenza Evans
- , Sarah Everest
- , Tina Fendick
- , Richard Fisher
- , Frances Flinter
- , Nicola Foulds
- , Andrew Fry
- , Alan Fryer
- , Carol Gardiner
- , Lorraine Gaunt
- , Neeti Ghali
- , Richard Gibbons
- , Harinder Gill
- , Judith Goodship
- , David Goudie
- , Emma Gray
- , Andrew Green
- , Philip Greene
- , Lynn Greenhalgh
- , Susan Gribble
- , Rachel Harrison
- , Lucy Harrison
- , Victoria Harrison
- , Rose Hawkins
- , Liu He
- , Stephen Hellens
- , Alex Henderson
- , Sarah Hewitt
- , Lucy Hildyard
- , Emma Hobson
- , Simon Holden
- , Muriel Holder
- , Susan Holder
- , Georgina Hollingsworth
- , Tessa Homfray
- , Mervyn Humphreys
- , Jane Hurst
- , Ben Hutton
- , Stuart Ingram
- , Melita Irving
- , Lily Islam
- , Andrew Jackson
- , Joanna Jarvis
- , Lucy Jenkins
- , Diana Johnson
- , Elizabeth Jones
- , Dragana Josifova
- , Shelagh Joss
- , Beckie Kaemba
- , Sandra Kazembe
- , Rosemary Kelsell
- , Bronwyn Kerr
- , Helen Kingston
- , Usha Kini
- , Esther Kinning
- , Gail Kirby
- , Claire Kirk
- , Emma Kivuva
- , Alison Kraus
- , Dhavendra Kumar
- , V. K. Ajith Kumar
- , Katherine Lachlan
- , Wayne Lam
- , Anne Lampe
- , Caroline Langman
- , Melissa Lees
- , Derek Lim
- , Cheryl Longman
- , Gordon Lowther
- , Sally A. Lynch
- , Alex Magee
- , Eddy Maher
- , Alison Male
- , Sahar Mansour
- , Karen Marks
- , Katherine Martin
- , Una Maye
- , Emma McCann
- , Vivienne McConnell
- , Meriel McEntagart
- , Ruth McGowan
- , Kirsten McKay
- , Shane McKee
- , Dominic J. McMullan
- , Susan McNerlan
- , Catherine McWilliam
- , Sarju Mehta
- , Kay Metcalfe
- , Anna Middleton
- , Zosia Miedzybrodzka
- , Emma Miles
- , Shehla Mohammed
- , Tara Montgomery
- , David Moore
- , Sian Morgan
- , Jenny Morton
- , Hood Mugalaasi
- , Victoria Murday
- , Helen Murphy
- , Swati Naik
- , Andrea Nemeth
- , Louise Nevitt
- , Andrew Norman
- , Rosie O’Shea
- , Caroline Ogilvie
- , Kai-Ren Ong
- , Soo-Mi Park
- , Michael J. Parker
- , Chirag Patel
- , Joan Paterson
- , Stewart Payne
- , Daniel Perrett
- , Julie Phipps
- , Daniela T. Pilz
- , Martin Pollard
- , Caroline Pottinger
- , Joanna Poulton
- , Norman Pratt
- , Katrina Prescott
- , Abigail Pridham
- , Annie Procter
- , Hellen Purnell
- , Oliver Quarrell
- , Nicola Ragge
- , Raheleh Rahbari
- , Josh Randall
- , Lucy Raymond
- , Debbie Rice
- , Leema Robert
- , Eileen Roberts
- , Jonathan Roberts
- , Paul Roberts
- , Gillian Roberts
- , Alison Ross
- , Elisabeth Rosser
- , Anand Saggar
- , Shalaka Samant
- , Julian Sampson
- , Richard Sandford
- , Ajoy Sarkar
- , Susann Schweiger
- , Richard Scott
- , Ingrid Scurr
- , Ann Selby
- , Anneke Seller
- , Cheryl Sequeira
- , Nora Shannon
- , Saba Sharif
- , Charles Shaw-Smith
- , Emma Shearing
- , Debbie Shears
- , Eamonn Sheridan
- , Ingrid Simonic
- , Roldan Singzon
- , Zara Skitt
- , Audrey Smith
- , Kath Smith
- , Sarah Smithson
- , Linda Sneddon
- , Miranda Splitt
- , Miranda Squires
- , Fiona Stewart
- , Helen Stewart
- , Volker Straub
- , Mohnish Suri
- , Vivienne Sutton
- , Ganesh Jawahar Swaminathan
- , Elizabeth Sweeney
- , Kate Tatton-Brown
- , Cat Taylor
- , Rohan Taylor
- , Mark Tein
- , I. Karen Temple
- , Jenny Thomson
- , Marc Tischkowitz
- , Susan Tomkins
- , Audrey Torokwa
- , Becky Treacy
- , Claire Turner
- , Peter Turnpenny
- , Carolyn Tysoe
- , Anthony Vandersteen
- , Vinod Varghese
- , Pradeep Vasudevan
- , Parthiban Vijayarangakannan
- , Julie Vogt
- , Emma Wakeling
- , Sarah Wallwark
- , Jonathon Waters
- , Astrid Weber
- , Diana Wellesley
- , Margo Whiteford
- , Sara Widaa
- , Sarah Wilcox
- , Emily Wilkinson
- , Denise Williams
- , Nicola Williams
- , Louise Wilson
- , Geoff Woods
- , Christopher Wragg
- , Michael Wright
- , Laura Yates
- , Michael Yau
- , Chris Nellåker
- , Michael Parker
- , Helen V. Firth
- , Caroline F. Wright
- , David R. FitzPatrick
- , Jeffrey C. Barrett
- , Matthew E. Hurles
- , John D. Roberts
- , Robert M. Petrovich
- , Shinichi Machida
- , Hitoshi Kurumizaka
- , Stefan Lelieveld
- , Rolph Pfundt
- , Sandra Jansen
- , Pelagia Deriziotis
- , Laurence Faivre
- , Julien Thevenon
- , Mirna Assoum
- , Lawrence Shriberg
- , Tjitske Kleefstra
- , Han G. Brunner
- , Paul A. Wade
- , Simon E. Fisher
- & Philippe M. Campeau
Nature Communications 9 , 1–12

Rights & permissionsfor article CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language . Opens in a new window.
Research | 14 August 2017
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
Nature Genetics 49 , 1529–1538

Rights & permissionsfor article Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly . Opens in a new window.

Quick links