Showing 1–42 of 42 results
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Amendments and Corrections |
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
- Sheng Chih Jin
- , Sara A. Lewis
- , Somayeh Bakhtiari
- , Xue Zeng
- , Michael C. Sierant
- , Sheetal Shetty
- , Sandra M. Nordlie
- , Aureliane Elie
- , Mark A. Corbett
- , Bethany Y. Norton
- , Clare L. van Eyk
- , Shozeb Haider
- , Brandon S. Guida
- , Helen Magee
- , James Liu
- , Stephen Pastore
- , John B. Vincent
- , Janice Brunstrom-Hernandez
- , Antigone Papavasileiou
- , Michael C. Fahey
- , Jesia G. Berry
- , Kelly Harper
- , Chongchen Zhou
- , Junhui Zhang
- , Boyang Li
- , Hongyu Zhao
- , Jennifer Heim
- , Dani L. Webber
- , Mahalia S. B. Frank
- , Lei Xia
- , Yiran Xu
- , Dengna Zhu
- , Bohao Zhang
- , Amar H. Sheth
- , James R. Knight
- , Christopher Castaldi
- , Irina R. Tikhonova
- , Francesc López-Giráldez
- , Boris Keren
- , Sandra Whalen
- , Julien Buratti
- , Diane Doummar
- , Megan Cho
- , Kyle Retterer
- , Francisca Millan
- , Yangong Wang
- , Jeff L. Waugh
- , Lance Rodan
- , Julie S. Cohen
- , Ali Fatemi
- , Angela E. Lin
- , John P. Phillips
- , Timothy Feyma
- , Suzanna C. MacLennan
- , Spencer Vaughan
- , Kylie E. Crompton
- , Susan M. Reid
- , Dinah S. Reddihough
- , Qing Shang
- , Chao Gao
- , Iona Novak
- , Nadia Badawi
- , Yana A. Wilson
- , Sarah J. McIntyre
- , Shrikant M. Mane
- , Xiaoyang Wang
- , David J. Amor
- , Daniela C. Zarnescu
- , Qiongshi Lu
- , Qinghe Xing
- , Changlian Zhu
- , Kaya Bilguvar
- , Sergio Padilla-Lopez
- , Richard P. Lifton
- , Jozef Gecz
- , Alastair H. MacLennan
- & Michael C. Kruer
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Amendments and Corrections |
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Research |
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Research | | Open
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Research |
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
- Edwin P. Kirk
- , Royston Ong
- , Kirsten Boggs
- , Tristan Hardy
- , Sarah Righetti
- , Ben Kamien
- , Tony Roscioli
- , David J. Amor
- , Madhura Bakshi
- , Clara W. T. Chung
- , Alison Colley
- , Robyn V. Jamieson
- , Jan Liebelt
- , Alan Ma
- , Nicholas Pachter
- , Sulekha Rajagopalan
- , Anja Ravine
- , Meredith Wilson
- , Jade Caruana
- , Rachael Casella
- , Mark Davis
- , Samantha Edwards
- , Alison Archibald
- , Julie McGaughran
- , Ainsley J. Newson
- , Nigel G. Laing
- & Martin B. Delatycki
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Research | | Open
FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome
- Emma K. Baker
- , Marta Arpone
- , Claudine Kraan
- , Minh Bui
- , Carolyn Rogers
- , Michael Field
- , Lesley Bretherton
- , Ling Ling
- , Alexandra Ure
- , Jonathan Cohen
- , Matthew F. Hunter
- , Lorena Santa María
- , Victor Faundes
- , Bianca Curotto
- , Paulina Morales
- , Cesar Trigo
- , Isabel Salas
- , Angelica Alliende
- , David J. Amor
- & David E. Godler
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Research |
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Research |
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
- Sheng Chih Jin
- , Sara A. Lewis
- , Somayeh Bakhtiari
- , Xue Zeng
- , Michael C. Sierant
- , Sheetal Shetty
- , Sandra M. Nordlie
- , Aureliane Elie
- , Mark A. Corbett
- , Bethany Y. Norton
- , Clare L. van Eyk
- , Shozeb Haider
- , Brandon S. Guida
- , Helen Magee
- , James Liu
- , Stephen Pastore
- , John B. Vincent
- , Janice Brunstrom-Hernandez
- , Antigone Papavasileiou
- , Michael C. Fahey
- , Jesia G. Berry
- , Kelly Harper
- , Chongchen Zhou
- , Junhui Zhang
- , Boyang Li
- , Hongyu Zhao
- , Jennifer Heim
- , Dani L. Webber
- , Mahalia S. B. Frank
- , Lei Xia
- , Yiran Xu
- , Dengna Zhu
- , Bohao Zhang
- , Amar H. Sheth
- , James R. Knight
- , Christopher Castaldi
- , Irina R. Tikhonova
- , Francesc López-Giráldez
- , Boris Keren
- , Sandra Whalen
- , Julien Buratti
- , Diane Doummar
- , Megan Cho
- , Kyle Retterer
- , Francisca Millan
- , Yangong Wang
- , Jeff L. Waugh
- , Lance Rodan
- , Julie S. Cohen
- , Ali Fatemi
- , Angela E. Lin
- , John P. Phillips
- , Timothy Feyma
- , Suzanna C. MacLennan
- , Spencer Vaughan
- , Kylie E. Crompton
- , Susan M. Reid
- , Dinah S. Reddihough
- , Qing Shang
- , Chao Gao
- , Iona Novak
- , Nadia Badawi
- , Yana A. Wilson
- , Sarah J. McIntyre
- , Shrikant M. Mane
- , Xiaoyang Wang
- , David J. Amor
- , Daniela C. Zarnescu
- , Qiongshi Lu
- , Qinghe Xing
- , Changlian Zhu
- , Kaya Bilguvar
- , Sergio Padilla-Lopez
- , Richard P. Lifton
- , Jozef Gecz
- , Alastair H. MacLennan
- & Michael C. Kruer
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Research |
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Amendments and Corrections | | Open
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Research |
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Amendments and Corrections |
Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests
- Alison Dalton Archibald
- , Melanie Jane Smith
- , Trent Burgess
- , Katrina Louise Scarff
- , Justine Elliott
- , Clare Elizabeth Hunt
- , Caitlin Barns-Jenkins
- , Chelsea Holt
- , Karina Sandoval
- , Vanessa Siva Kumar
- , Lisa Ward
- , Emily Caroline Allen
- , Sarah Valerie Collis
- , Shannon Cowie
- , David Francis
- , Martin B Delatycki
- , Eppie Mildred Yiu
- , R John Massie
- , Mark Domenic Pertile
- , Desirée du Sart
- , Damien Bruno
- & David J Amor
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Research |
De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
- Maria J. Nabais Sá
- , Hanka Venselaar
- , Laurens Wiel
- , Aurélien Trimouille
- , Eulalie Lasseaux
- , Sophie Naudion
- , Didier Lacombe
- , Amélie Piton
- , Catherine Vincent-Delorme
- , Christiane Zweier
- , André Reis
- , Regina Trollmann
- , Anna Ruiz
- , Elisabeth Gabau
- , Annalisa Vetro
- , Renzo Guerrini
- , Somayeh Bakhtiari
- , Michael C. Kruer
- , David J. Amor
- , Monica S. Cooper
- , Emilia K. Bijlsma
- , Tahsin Stefan Barakat
- , Marieke F. van Dooren
- , Marjon van Slegtenhorst
- , Rolph Pfundt
- , Christian Gilissen
- , Michèl A. Willemsen
- , Bert B. A. de Vries
- , Arjan P. M. de Brouwer
- & David A. Koolen
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Research |
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Research | | Open
Revealing hidden genetic diagnoses in the ocular anterior segment disorders
- Alan Ma
- , Saira Yousoof
- , John R. Grigg
- , Maree Flaherty
- , Andre E. Minoche
- , Mark J. Cowley
- , Benjamin M. Nash
- , Gladys Ho
- , Thet Gayagay
- , Tiffany Lai
- , Elizabeth Farnsworth
- , Emma L. Hackett
- , Katrina Fisk
- , Karen Wong
- , Katherine J. Holman
- , Gemma Jenkins
- , Anson Cheng
- , Frank Martin
- , Tanya Karaconji
- , James E. Elder
- , Annabelle Enriquez
- , Meredith Wilson
- , David J. Amor
- , Chloe A. Stutterd
- , Benjamin Kamien
- , John Nelson
- , Marcel E. Dinger
- , Bruce Bennetts
- & Robyn V. Jamieson
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Research |
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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
- Zornitza Stark
- , Tiong Y. Tan
- , Belinda Chong
- , Gemma R. Brett
- , Patrick Yap
- , Maie Walsh
- , Alison Yeung
- , Heidi Peters
- , Dylan Mordaunt
- , Shannon Cowie
- , David J. Amor
- , Ravi Savarirayan
- , George McGillivray
- , Lilian Downie
- , Paul G. Ekert
- , Christiane Theda
- , Paul A. James
- , Joy Yaplito-Lee
- , Monique M. Ryan
- , Richard J. Leventer
- , Emma Creed
- , Ivan Macciocca
- , Katrina M. Bell
- , Alicia Oshlack
- , Simon Sadedin
- , Peter Georgeson
- , Charlotte Anderson
- , Natalie Thorne
- , Clara Gaff
- & Susan M White
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Research |
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
- Matias Wagner
- , Jonathan Lévy
- , Sabine Jung-Klawitter
- , Somayeh Bakhtiari
- , Fabiola Monteiro
- , Reza Maroofian
- , Tatjana Bierhals
- , Maja Hempel
- , Monique Elmaleh-Bergès
- , Joao P. Kitajima
- , Chong A. Kim
- , Julia G. Salomao
- , David J. Amor
- , Monica S. Cooper
- , Laurence Perrin
- , Eva Pipiras
- , Axel Neu
- , Mohammad Doosti
- , Ehsan G. Karimiani
- , Mehran B. Toosi
- , Henry Houlden
- , Sheng Chih Jin
- , Yue C. Si
- , Lance H. Rodan
- , Hanka Venselaar
- , Michael C. Kruer
- , Fernando Kok
- , Georg F. Hoffmann
- , Tim M. Strom
- , Saskia B. Wortmann
- , Anne-Claude Tabet
- & Thomas Opladen
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Research |
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Research |
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Research |
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Research |
Dominant missense mutations in ABCC9 cause Cantú syndrome
- Magdalena Harakalova
- , Jeske J T van Harssel
- , Paulien A Terhal
- , Stef van Lieshout
- , Karen Duran
- , Ivo Renkens
- , David J Amor
- , Louise C Wilson
- , Edwin P Kirk
- , Claire L S Turner
- , Debbie Shears
- , Sixto Garcia-Minaur
- , Melissa M Lees
- , Alison Ross
- , Hanka Venselaar
- , Gert Vriend
- , Hiroki Takanari
- , Martin B Rook
- , Marcel A G van der Heyden
- , Folkert W Asselbergs
- , Hans M Breur
- , Marielle E Swinkels
- , Ingrid J Scurr
- , Sarah F Smithson
- , Nine V Knoers
- , Jasper J van der Smagt
- , Isaac J Nijman
- , Wigard P Kloosterman
- , Mieke M van Haelst
- , Gijs van Haaften
- & Edwin Cuppen
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Research |
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Research |
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Research | | Open
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Research | | Open
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Research |
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
- Kamal Khan
- , Michael Zech
- , Angela T. Morgan
- , David J. Amor
- , Matej Skorvanek
- , Tahir N. Khan
- , Michael S. Hildebrand
- , Victoria E. Jackson
- , Thomas S. Scerri
- , Matthew Coleman
- , Kristin A. Rigbye
- , Ingrid E. Scheffer
- , Melanie Bahlo
- , Matias Wagner
- , Daniel D. Lam
- , Riccardo Berutti
- , Petra Havránková
- , Anna Fečíková
- , Tim M. Strom
- , Vladimir Han
- , Petra Dosekova
- , Zuzana Gdovinova
- , Franco Laccone
- , Muhammad Jameel
- , Marie R. Mooney
- , Shahid M. Baig
- , Robert Jech
- , Erica E. Davis
- , Nicholas Katsanis
- & Juliane Winkelmann
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Research | | Open
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Research | | Open
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
- Lucilla Pizzo
- , Matthew Jensen
- , Andrew Polyak
- , Jill A. Rosenfeld
- , Katrin Mannik
- , Arjun Krishnan
- , Elizabeth McCready
- , Olivier Pichon
- , Cedric Le Caignec
- , Anke Van Dijck
- , Kate Pope
- , Els Voorhoeve
- , Jieun Yoon
- , Paweł Stankiewicz
- , Sau Wai Cheung
- , Damian Pazuchanics
- , Emily Huber
- , Vijay Kumar
- , Rachel L. Kember
- , Francesca Mari
- , Aurora Curró
- , Lucia Castiglia
- , Ornella Galesi
- , Emanuela Avola
- , Teresa Mattina
- , Marco Fichera
- , Luana Mandarà
- , Marie Vincent
- , Mathilde Nizon
- , Sandra Mercier
- , Claire Bénéteau
- , Sophie Blesson
- , Dominique Martin-Coignard
- , Anne-Laure Mosca-Boidron
- , Jean-Hubert Caberg
- , Maja Bucan
- , Susan Zeesman
- , Małgorzata J. M. Nowaczyk
- , Mathilde Lefebvre
- , Laurence Faivre
- , Patrick Callier
- , Cindy Skinner
- , Boris Keren
- , Charles Perrine
- , Paolo Prontera
- , Nathalie Marle
- , Alessandra Renieri
- , Alexandre Reymond
- , R. Frank Kooy
- , Bertrand Isidor
- , Charles Schwartz
- , Corrado Romano
- , Erik Sistermans
- , David J. Amor
- , Joris Andrieux
- & Santhosh Girirajan
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Research | | Open
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X
- Marta Arpone
- , Emma K. Baker
- , Lesley Bretherton
- , Minh Bui
- , Xin Li
- , Simon Whitaker
- , Cheryl Dissanayake
- , Jonathan Cohen
- , Chriselle Hickerton
- , Carolyn Rogers
- , Mike Field
- , Justine Elliott
- , Solange M. Aliaga
- , Ling Ling
- , David Francis
- , Stephen J. C. Hearps
- , Matthew F. Hunter
- , David J. Amor
- & David E. Godler
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Research |
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Research |
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Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests
- Alison Dalton Archibald
- , Melanie Jane Smith
- , Trent Burgess
- , Katrina Louise Scarff
- , Justine Elliott
- , Clare Elizabeth Hunt
- , Caitlin Barns-Jenkins
- , Chelsea Holt
- , Karina Sandoval
- , Vanessa Siva Kumar
- , Lisa Ward
- , Emily Caroline Allen
- , Sarah Valerie Collis
- , Shannon Cowie
- , David Francis
- , Martin B Delatycki
- , Eppie Mildred Yiu
- , R John Massie
- , Mark Domenic Pertile
- , Desirée du Sart
- , Damien Bruno
- & David J Amor
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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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Research |
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
- Ashley P L Marsh
- , Delphine Heron
- , Timothy J Edwards
- , Angélique Quartier
- , Charles Galea
- , Caroline Nava
- , Agnès Rastetter
- , Marie-Laure Moutard
- , Vicki Anderson
- , Pierre Bitoun
- , Jens Bunt
- , Anne Faudet
- , Catherine Garel
- , Greta Gillies
- , Ilan Gobius
- , Justine Guegan
- , Solveig Heide
- , Boris Keren
- , Fabien Lesne
- , Vesna Lukic
- , Simone A Mandelstam
- , George McGillivray
- , Alissandra McIlroy
- , Aurélie Méneret
- , Cyril Mignot
- , Laura R Morcom
- , Sylvie Odent
- , Annalisa Paolino
- , Kate Pope
- , Florence Riant
- , Gail A Robinson
- , Megan Spencer-Smith
- , Myriam Srour
- , Sarah E M Stephenson
- , Rick Tankard
- , Oriane Trouillard
- , Quentin Welniarz
- , Amanda Wood
- , Alexis Brice
- , Guy Rouleau
- , Tania Attié-Bitach
- , Martin B Delatycki
- , Jean-Louis Mandel
- , David J Amor
- , Emmanuel Roze
- , Amélie Piton
- , Melanie Bahlo
- , Thierry Billette de Villemeur
- , Elliott H Sherr
- , Richard J Leventer
- , Linda J Richards
- , Paul J Lockhart
- & Christel Depienne
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Research |
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
- Davor Lessel
- , Bruno Vaz
- , Swagata Halder
- , Paul J Lockhart
- , Ivana Marinovic-Terzic
- , Jaime Lopez-Mosqueda
- , Melanie Philipp
- , Joe C H Sim
- , Katherine R Smith
- , Judith Oehler
- , Elisa Cabrera
- , Raimundo Freire
- , Kate Pope
- , Amsha Nahid
- , Fiona Norris
- , Richard J Leventer
- , Martin B Delatycki
- , Gotthold Barbi
- , Simon von Ameln
- , Josef Högel
- , Marina Degoricija
- , Regina Fertig
- , Martin D Burkhalter
- , Kay Hofmann
- , Holger Thiele
- , Janine Altmüller
- , Gudrun Nürnberg
- , Peter Nürnberg
- , Melanie Bahlo
- , George M Martin
- , Cora M Aalfs
- , Junko Oshima
- , Janos Terzic
- , David J Amor
- , Ivan Dikic
- , Kristijan Ramadan
- & Christian Kubisch
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Research |
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
- Claire Laure Navarro
- , Vera Esteves-Vieira
- , Sébastien Courrier
- , Amandine Boyer
- , Thuy Duong Nguyen
- , Le Thi Thanh Huong
- , Peter Meinke
- , Winnie Schröder
- , Valérie Cormier-Daire
- , Yves Sznajer
- , David J Amor
- , Kristina Lagerstedt
- , Martine Biervliet
- , Peter C van den Akker
- , Pierre Cau
- , Patrice Roll
- , Nicolas Lévy
- , Catherine Badens
- , Manfred Wehnert
- & Annachiara De Sandre-Giovannoli
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Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study
- Yoshimi Inaba
- , Amy S. Herlihy
- , Charles E. Schwartz
- , Cindy Skinner
- , Quang M. Bui
- , Joanna Cobb
- , Elva Z. Shi
- , David Francis
- , Alison Arvaj
- , David J. Amor
- , Kate Pope
- , Tiffany Wotton
- , Jonathan Cohen
- , Jacqueline K. Hewitt
- , Randi J. Hagerman
- , Sylvia A. Metcalfe
- , John L. Hopper
- , Danuta Z. Loesch
- , Howard R. Slater
- & David E. Godler
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Research |
