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Research |
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
- Theodore G. Drivas
- , Dong Li
- , Divya Nair
- , Joseph T. Alaimo
- , Mariëlle Alders
- , Janine Altmüller
- , Tahsin Stefan Barakat
- , E. Martina Bebin
- , Nicole L. Bertsch
- , Patrick R. Blackburn
- , Alyssa Blesson
- , Arjan M. Bouman
- , Knut Brockmann
- , Perrine Brunelle
- , Margit Burmeister
- , Gregory M. Cooper
- , Jonas Denecke
- , Anne Dieux-Coëslier
- , Holly Dubbs
- , Alejandro Ferrer
- , Danna Gal
- , Lauren E. Bartik
- , Lauren B. Gunderson
- , Linda Hasadsri
- , Mahim Jain
- , Catherine Karimov
- , Beth Keena
- , Eric W. Klee
- , Katja Kloth
- , Baiba Lace
- , Marina Macchiaiolo
- , Julien L. Marcadier
- , Jeff M. Milunsky
- , Melanie P. Napier
- , Xilma R. Ortiz-Gonzalez
- , Pavel N. Pichurin
- , Jason Pinner
- , Zoe Powis
- , Chitra Prasad
- , Francesca Clementina Radio
- , Kristen J. Rasmussen
- , Deborah L. Renaud
- , Eric T. Rush
- , Carol Saunders
- , Duygu Selcen
- , Ann R. Seman
- , Deepali N. Shinde
- , Erica D. Smith
- , Thomas Smol
- , Lot Snijders Blok
- , Joan M. Stoler
- , Sha Tang
- , Marco Tartaglia
- , Michelle L. Thompson
- , Jiddeke M. van de Kamp
- , Jingmin Wang
- , Dagmar Weise
- , Karin Weiss
- , Rixa Woitschach
- , Bernd Wollnik
- , Huifang Yan
- , Elaine H. Zackai
- , Giuseppe Zampino
- , Philippe Campeau
- & Elizabeth Bhoj
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Research |
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
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Research | | Open
PEDIA: prioritization of exome data by image analysis
- Tzung-Chien Hsieh
- , Martin A. Mensah
- , Jean T. Pantel
- , Dione Aguilar
- , Omri Bar
- , Allan Bayat
- , Luis Becerra-Solano
- , Heidi B. Bentzen
- , Saskia Biskup
- , Oleg Borisov
- , Oivind Braaten
- , Claudia Ciaccio
- , Marie Coutelier
- , Kirsten Cremer
- , Magdalena Danyel
- , Svenja Daschkey
- , Hilda David Eden
- , Koenraad Devriendt
- , Sandra Wilson
- , Sofia Douzgou
- , Dejan Đukić
- , Nadja Ehmke
- , Christine Fauth
- , Björn Fischer-Zirnsak
- , Nicole Fleischer
- , Heinz Gabriel
- , Luitgard Graul-Neumann
- , Karen W. Gripp
- , Yaron Gurovich
- , Asya Gusina
- , Nechama Haddad
- , Nurulhuda Hajjir
- , Yair Hanani
- , Jakob Hertzberg
- , Konstanze Hoertnagel
- , Janelle Howell
- , Ivan Ivanovski
- , Angela Kaindl
- , Tom Kamphans
- , Susanne Kamphausen
- , Catherine Karimov
- , Hadil Kathom
- , Anna Keryan
- , Alexej Knaus
- , Sebastian Köhler
- , Uwe Kornak
- , Alexander Lavrov
- , Maximilian Leitheiser
- , Gholson J. Lyon
- , Elisabeth Mangold
- , Purificación Marín Reina
- , Antonio Martinez Carrascal
- , Diana Mitter
- , Laura Morlan Herrador
- , Guy Nadav
- , Markus Nöthen
- , Alfredo Orrico
- , Claus-Eric Ott
- , Kristen Park
- , Borut Peterlin
- , Laura Pölsler
- , Annick Raas-Rothschild
- , Linda Randolph
- , Nicole Revencu
- , Christina Ringmann Fagerberg
- , Peter Nick Robinson
- , Stanislav Rosnev
- , Sabine Rudnik
- , Gorazd Rudolf
- , Ulrich Schatz
- , Anna Schossig
- , Max Schubach
- , Or Shanoon
- , Eamonn Sheridan
- , Pola Smirin-Yosef
- , Malte Spielmann
- , Eun-Kyung Suk
- , Yves Sznajer
- , Christian T. Thiel
- , Gundula Thiel
- , Alain Verloes
- , Irena Vrecar
- , Dagmar Wahl
- , Ingrid Weber
- , Korina Winter
- , Marzena Wiśniewska
- , Bernd Wollnik
- , Ming W. Yeung
- , Max Zhao
- , Na Zhu
- , Johannes Zschocke
- , Stefan Mundlos
- , Denise Horn
- & Peter M. Krawitz
