ArticleNature genetics2017
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 and 68 more
Abstract readPublished Erratum
In one paragraphArticle in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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2 · The registryThe trial behind it
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3 · Its place in the literatureWho cites it
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4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
78 authors.
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
Angela E Lin
Nicholas Katsanis
Peter L Jones
William F Crowley
Erica E Davis
David R FitzPatrick
Michael E Talkowski
Funding
Investigation of the genetic architecture and phenotypic spectrum of Bosma arhinia microphthalmia syndromeZIAES103327 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI SHAW, NATALIE · 2017 to 2025
$15.5MThe Genetic Determinants of Human GNRH DeficiencyP50HD028138 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI CROWLEY, WILLIAM FRANCIS · 2014 to 2020
$12.9MMechanisms of DUX4 mediated FSHD pathologyR01AR062587 · NIAMS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI JONES, PETER L · 2013 to 2024
$5.3MMedical Research Council MR/M02122X/1NIAMS NIH HHS R01 AR062587
6 · The paper itselfAbstract
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