Showing 1–17 of 17 results
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Research | | Open
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Amendments and Corrections | | Open
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
- Sahar Elouej
- , Karim Harhouri
- , Morgane Le Mao
- , Genevieve Baujat
- , Sheela Nampoothiri
- , Hϋlya Kayserili
- , Nihal Al Menabawy
- , Laila Selim
- , Arianne Llamos Paneque
- , Christian Kubisch
- , Davor Lessel
- , Robert Rubinsztajn
- , Chayki Charar
- , Catherine Bartoli
- , Coraline Airault
- , Jean-François Deleuze
- , Agnes Rötig
- , Peter Bauer
- , Catarina Pereira
- , Abigail Loh
- , Nathalie Escande-Beillard
- , Antoine Muchir
- , Lisa Martino
- , Yosef Gruenbaum
- , Song-Hua Lee
- , Philippe Manivet
- , Guy Lenaers
- , Bruno Reversade
- , Nicolas Lévy
- & Annachiara De Sandre-Giovannoli
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Research | | Open
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
- Sahar Elouej
- , Karim Harhouri
- , Morgane Le Mao
- , Genevieve Baujat
- , Sheela Nampoothiri
- , Hϋlya Kayserili
- , Nihal Al Menabawy
- , Laila Selim
- , Arianne Llamos Paneque
- , Christian Kubisch
- , Davor Lessel
- , Robert Rubinsztajn
- , Chayki Charar
- , Catherine Bartoli
- , Coraline Airault
- , Jean-François Deleuze
- , Agnes Rötig
- , Peter Bauer
- , Catarina Pereira
- , Abigail Loh
- , Nathalie Escande-Beillard
- , Antoine Muchir
- , Lisa Martino
- , Yosef Gruenbaum
- , Song-Hua Lee
- , Philippe Manivet
- , Guy Lenaers
- , Bruno Reversade
- , Nicolas Lévy
- & Annachiara De Sandre-Giovannoli
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Amendments and Corrections |
Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
- Emmanuelle Szenker-Ravi
- , Umut Altunoglu
- , Marc Leushacke
- , Célia Bosso-Lefèvre
- , Muznah Khatoo
- , Hong Thi Tran
- , Thomas Naert
- , Rivka Noelanders
- , Amin Hajamohideen
- , Claire Beneteau
- , Sergio B. de Sousa
- , Birsen Karaman
- , Xenia Latypova
- , Seher Başaran
- , Esra Börklü Yücel
- , Thong Teck Tan
- , Lena Vlaminck
- , Shalini S. Nayak
- , Anju Shukla
- , Katta Mohan Girisha
- , Cédric Le Caignec
- , Natalia Soshnikova
- , Zehra Oya Uyguner
- , Kris Vleminckx
- , Nick Barker
- , Hülya Kayserili
- & Bruno Reversade
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Research |
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Research | | Open
Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly
- Shan Zhang
- , Boris Reljić
- , Chao Liang
- , Baptiste Kerouanton
- , Joel Celio Francisco
- , Jih Hou Peh
- , Camille Mary
- , Narendra Suhas Jagannathan
- , Volodimir Olexiouk
- , Claire Tang
- , Gio Fidelito
- , Srikanth Nama
- , Ruey-Kuang Cheng
- , Caroline Lei Wee
- , Loo Chien Wang
- , Paula Duek Roggli
- , Prabha Sampath
- , Lydie Lane
- , Enrico Petretto
- , Radoslaw M. Sobota
- , Suresh Jesuthasan
- , Lisa Tucker-Kellogg
- , Bruno Reversade
- , Gerben Menschaert
- , Lei Sun
- , David A. Stroud
- & Lena Ho
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Research |
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
- Bruno Reversade and colleagues show that mutations...
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Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
- Hanan Hamamy
- , Stylianos E Antonarakis
- , Luigi Luca Cavalli-Sforza
- , Samia Temtamy
- , Giovanni Romeo
- , Leo P Ten Kate
- , Robin L Bennett
- , Alison Shaw
- , Andre Megarbane
- , Cornelia van Duijn
- , Heli Bathija
- , Siv Fokstuen
- , Eric Engel
- , Joel Zlotogora
- , Emmanouil Dermitzakis
- , Armand Bottani
- , Sophie Dahoun
- , Michael A Morris
- , Steve Arsenault
- , Mona S Aglan
- , Mubasshir Ajaz
- , Ayad Alkalamchi
- , Dhekra Alnaqeb
- , Mohamed K Alwasiyah
- , Nawfal Anwer
- , Rawan Awwad
- , Melissa Bonnefin
- , Peter Corry
- , Lorraine Gwanmesia
- , Gulshan A Karbani
- , Maryam Mostafavi
- , Tommaso Pippucci
- , Emmanuelle Ranza-Boscardin
- , Bruno Reversade
- , Saghira M Sharif
- , Marieke E Teeuw
- & Alan H Bittles
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Research |
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Research | | Open
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
- Holger Hengel
- , Célia Bosso-Lefèvre
- , George Grady
- , Emmanuelle Szenker-Ravi
- , Hankun Li
- , Sarah Pierce
- , Élise Lebigot
- , Thong-Teck Tan
- , Michelle Y. Eio
- , Gunaseelan Narayanan
- , Kagistia Hana Utami
- , Monica Yau
- , Nader Handal
- , Werner Deigendesch
- , Reinhard Keimer
- , Hiyam M. Marzouqa
- , Meral Gunay-Aygun
- , Michael J. Muriello
- , Helene Verhelst
- , Sarah Weckhuysen
- , Sonal Mahida
- , Sakkubai Naidu
- , Terrence G. Thomas
- , Jiin Ying Lim
- , Ee Shien Tan
- , Damien Haye
- , Michèl A. A. P. Willemsen
- , Renske Oegema
- , Wendy G. Mitchell
- , Tyler Mark Pierson
- , Marisa V. Andrews
- , Marcia C. Willing
- , Lance H. Rodan
- , Tahsin Stefan Barakat
- , Marjon van Slegtenhorst
- , Ralitza H. Gavrilova
- , Diego Martinelli
- , Tal Gilboa
- , Abdullah M. Tamim
- , Mais O. Hashem
- , Moeenaldeen D. AlSayed
- , Maha M. Abdulrahim
- , Mohammed Al-Owain
- , Ali Awaji
- , Adel A. H. Mahmoud
- , Eissa A. Faqeih
- , Ali Al Asmari
- , Sulwan M. Algain
- , Lamyaa A. Jad
- , Hesham M. Aldhalaan
- , Ingo Helbig
- , David A. Koolen
- , Angelika Riess
- , Ingeborg Kraegeloh-Mann
- , Peter Bauer
- , Suleyman Gulsuner
- , Hannah Stamberger
- , Alvin Yu Jin Ng
- , Sha Tang
- , Sumanty Tohari
- , Boris Keren
- , Laura E. Schultz-Rogers
- , Eric W. Klee
- , Sabina Barresi
- , Marco Tartaglia
- , Hagar Mor-Shaked
- , Sateesh Maddirevula
- , Amber Begtrup
- , Aida Telegrafi
- , Rolph Pfundt
- , Rebecca Schüle
- , Brian Ciruna
- , Carine Bonnard
- , Mahmoud A. Pouladi
- , James C. Stewart
- , Adam Claridge-Chang
- , Dirk J. Lefeber
- , Fowzan S. Alkuraya
- , Ajay S. Mathuru
- , Byrappa Venkatesh
- , Joseph J. Barycki
- , Melanie A. Simpson
- , Saumya S. Jamuar
- , Ludger Schöls
- & Bruno Reversade
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Research | | Open
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Research |
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
- Emmanuelle Szenker-Ravi
- , Umut Altunoglu
- , Marc Leushacke
- , Célia Bosso-Lefèvre
- , Muznah Khatoo
- , Hong Thi Tran
- , Thomas Naert
- , Rivka Noelanders
- , Amin Hajamohideen
- , Claire Beneteau
- , Sergio B. de Sousa
- , Birsen Karaman
- , Xenia Latypova
- , Seher Başaran
- , Esra Börklü Yücel
- , Thong Teck Tan
- , Lena Vlaminck
- , Shalini S. Nayak
- , Anju Shukla
- , Katta Mohan Girisha
- , Cédric Le Caignec
- , Natalia Soshnikova
- , Zehra Oya Uyguner
- , Kris Vleminckx
- , Nick Barker
- , Hülya Kayserili
- & Bruno Reversade
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Research | | Open
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Research |
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
- Jeanne Amiel, Bernd Wollnik, Bruno Reversade and colleagues report de novo...
- Christopher T Gordon
- , Shifeng Xue
- , Gökhan Yigit
- , Hicham Filali
- , Kelan Chen
- , Nadine Rosin
- , Koh-ichiro Yoshiura
- , Myriam Oufadem
- , Tamara J Beck
- , Ruth McGowan
- , Alex C Magee
- , Janine Altmüller
- , Camille Dion
- , Holger Thiele
- , Alexandra D Gurzau
- , Peter Nürnberg
- , Dieter Meschede
- , Wolfgang Mühlbauer
- , Nobuhiko Okamoto
- , Vinod Varghese
- , Rachel Irving
- , Sabine Sigaudy
- , Denise Williams
- , S Faisal Ahmed
- , Carine Bonnard
- , Mung Kei Kong
- , Ilham Ratbi
- , Nawfal Fejjal
- , Meriem Fikri
- , Siham Chafai Elalaoui
- , Hallvard Reigstad
- , Christine Bole-Feysot
- , Patrick Nitschké
- , Nicola Ragge
- , Nicolas Lévy
- , Gökhan Tunçbilek
- , Audrey S M Teo
- , Michael L Cunningham
- , Abdelaziz Sefiani
- , Hülya Kayserili
- , James M Murphy
- , Chalermpong Chatdokmaiprai
- , Axel M Hillmer
- , Duangrurdee Wattanasirichaigoon
- , Stanislas Lyonnet
- , Frédérique Magdinier
- , Asif Javed
- , Marnie E Blewitt
- , Jeanne Amiel
- , Bernd Wollnik
- & Bruno Reversade
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Research |
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
- Elizabeth Pohler
- , Ons Mamai
- , Jennifer Hirst
- , Mozheh Zamiri
- , Helen Horn
- , Toshifumi Nomura
- , Alan D Irvine
- , Benvon Moran
- , Neil J Wilson
- , Frances J D Smith
- , Christabelle S M Goh
- , Aileen Sandilands
- , Christian Cole
- , Geoffrey J Barton
- , Alan T Evans
- , Hiroshi Shimizu
- , Masashi Akiyama
- , Mitsuhiro Suehiro
- , Izumi Konohana
- , Mohammad Shboul
- , Sebastien Teissier
- , Lobna Boussofara
- , Mohamed Denguezli
- , Ali Saad
- , Moez Gribaa
- , Patricia J Dopping-Hepenstal
- , John A McGrath
- , Sara J Brown
- , David R Goudie
- , Bruno Reversade
- , Colin S Munro
- & W H Irwin McLean
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Research |
Mutations in PYCR1 cause cutis laxa with progeroid features
- Bruno Reversade
- , Nathalie Escande-Beillard
- , Aikaterini Dimopoulou
- , Björn Fischer
- , Serene C Chng
- , Yun Li
- , Mohammad Shboul
- , Puay-Yoke Tham
- , Hülya Kayserili
- , Lihadh Al-Gazali
- , Monzer Shahwan
- , Francesco Brancati
- , Hane Lee
- , Brian D O'Connor
- , Mareen Schmidt-von Kegler
- , Barry Merriman
- , Stanley F Nelson
- , Amira Masri
- , Fawaz Alkazaleh
- , Deanna Guerra
- , Paola Ferrari
- , Arti Nanda
- , Anna Rajab
- , David Markie
- , Mary Gray
- , John Nelson
- , Arthur Grix
- , Annemarie Sommer
- , Ravi Savarirayan
- , Andreas R Janecke
- , Elisabeth Steichen
- , David Sillence
- , Ingrid Haußer
- , Birgit Budde
- , Gudrun Nürnberg
- , Peter Nürnberg
- , Petra Seemann
- , Désirée Kunkel
- , Giovanna Zambruno
- , Bruno Dallapiccola
- , Markus Schuelke
- , Stephen Robertson
- , Hanan Hamamy
- , Bernd Wollnik
- , Lionel Van Maldergem
- , Stefan Mundlos
- & Uwe Kornak
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Research |
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1
- David R Goudie
- , Mariella D'Alessandro
- , Barry Merriman
- , Hane Lee
- , Ildikó Szeverényi
- , Stuart Avery
- , Brian D O'Connor
- , Stanley F Nelson
- , Stephanie E Coats
- , Arlene Stewart
- , Lesley Christie
- , Gabriella Pichert
- , Jean Friedel
- , Ian Hayes
- , Nigel Burrows
- , Sean Whittaker
- , Anne-Marie Gerdes
- , Sigurd Broesby-Olsen
- , Malcolm A Ferguson-Smith
- , Chandra Verma
- , Declan P Lunny
- , Bruno Reversade
- & E Birgitte Lane
