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Amendments and Corrections |
Correction: Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
- Natalie D Shaw
- , Harrison Brand
- , Zachary A Kupchinsky
- , Hemant Bengani
- , Lacey Plummer
- , Takako I Jones
- , Serkan Erdin
- , Kathleen A Williamson
- , Joe Rainger
- , Alexei Stortchevoi
- , Kaitlin Samocha
- , Benjamin B Currall
- , Donncha S Dunican
- , Ryan L Collins
- , Jason R Willer
- , Angela Lek
- , Monkol Lek
- , Malik Nassan
- , Shahrin Pereira
- , Tammy Kammin
- , Diane Lucente
- , Alexandra Silva
- , Catarina M Seabra
- , Colby Chiang
- , Yu An
- , Morad Ansari
- , Jacqueline K Rainger
- , Shelagh Joss
- , Jill Clayton Smith
- , Margaret F Lippincott
- , Sylvia S Singh
- , Nirav Patel
- , Jenny W Jing
- , Jennifer R Law
- , Nalton Ferraro
- , Alain Verloes
- , Anita Rauch
- , Katharina Steindl
- , Markus Zweier
- , Ianina Scheer
- , Daisuke Sato
- , Nobuhiko Okamoto
- , Christina Jacobsen
- , Jeanie Tryggestad
- , Steven Chernausek
- , Lisa A Schimmenti
- , Benjamin Brasseur
- , Claudia Cesaretti
- , Jose E García-Ortiz
- , Tatiana Pineda Buitrago
- , Orlando Perez Silva
- , Jodi D Hoffman
- , Wolfgang Mühlbauer
- , Klaus W Ruprecht
- , Bart L Loeys
- , Masato Shino
- , Angela M Kaindl
- , Chie-Hee Cho
- , Cynthia C Morton
- , Richard R Meehan
- , Veronica van Heyningen
- , Eric C Liao
- , Ravikumar Balasubramanian
- , Janet E Hall
- , Stephanie B Seminara
- , Daniel Macarthur
- , Steven A Moore
- , Koh-ichiro Yoshiura
- , James F Gusella
- , Joseph A Marsh
- , John M Graham Jr
- , Angela E Lin
- , Nicholas Katsanis
- , Peter L Jones
- , William F Crowley Jr
- , Erica E Davis
- , David R FitzPatrick
- & Michael E Talkowski
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Research |
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
- Natalie D Shaw
- , Harrison Brand
- , Zachary A Kupchinsky
- , Hemant Bengani
- , Lacey Plummer
- , Takako I Jones
- , Serkan Erdin
- , Kathleen A Williamson
- , Joe Rainger
- , Alexei Stortchevoi
- , Kaitlin Samocha
- , Benjamin B Currall
- , Donncha S Dunican
- , Ryan L Collins
- , Jason R Willer
- , Angela Lek
- , Monkol Lek
- , Malik Nassan
- , Shahrin Pereira
- , Tammy Kammin
- , Diane Lucente
- , Alexandra Silva
- , Catarina M Seabra
- , Colby Chiang
- , Yu An
- , Morad Ansari
- , Jacqueline K Rainger
- , Shelagh Joss
- , Jill Clayton Smith
- , Margaret F Lippincott
- , Sylvia S Singh
- , Nirav Patel
- , Jenny W Jing
- , Jennifer R Law
- , Nalton Ferraro
- , Alain Verloes
- , Anita Rauch
- , Katharina Steindl
- , Markus Zweier
- , Ianina Scheer
- , Daisuke Sato
- , Nobuhiko Okamoto
- , Christina Jacobsen
- , Jeanie Tryggestad
- , Steven Chernausek
- , Lisa A Schimmenti
- , Benjamin Brasseur
- , Claudia Cesaretti
- , Jose E García-Ortiz
- , Tatiana Pineda Buitrago
- , Orlando Perez Silva
- , Jodi D Hoffman
- , Wolfgang Mühlbauer
- , Klaus W Ruprecht
- , Bart L Loeys
- , Masato Shino
- , Angela M Kaindl
- , Chie-Hee Cho
- , Cynthia C Morton
- , Richard R Meehan
- , Veronica van Heyningen
- , Eric C Liao
- , Ravikumar Balasubramanian
- , Janet E Hall
- , Stephanie B Seminara
- , Daniel Macarthur
- , Steven A Moore
- , Koh-ichiro Yoshiura
- , James F Gusella
- , Joseph A Marsh
- , John M Graham Jr
- , Angela E Lin
- , Nicholas Katsanis
- , Peter L Jones
- , William F Crowley Jr
- , Erica E Davis
- , David R FitzPatrick
- & Michael E Talkowski
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Research |
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