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American Journal of Human Genetics|January 1, 2013
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasiaCéline Huber, Eissa Ali Faqeih, Deborah Bartholdi, et al.
European Journal of Human Genetics : EJHG|November 30, 2006
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasiaAndreas Zankl, Gail C Jackson, Laureane Mittaz Crettol, et al.
Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
Clinical Genetics|April 10, 2023
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, et al.
NPJ Genomic Medicine|April 3, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohortMukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, et al.
American Journal of Medical Genetics. Part A|March 21, 2014
MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr typeLuisa Bonafé, Jinlong Liang, Maria W Gorna, et al.
American Journal of Human Genetics|May 10, 2011
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPPLisenka E L M Vissers, Ekkehart Lausch, Sheila Unger, et al.
American Journal of Human Genetics|September 6, 2002
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21Nazneen Rahman, Melanie Dunstan, M Dawn Teare, et al.
Italian Journal of Pediatrics|December 18, 2014
Multiple sulfatase deficiency with neonatal manifestationLivia Garavelli, Lucia Santoro, Alexandra Iori, et al.
American Journal of Human Genetics|June 2, 2009
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasiaAna Belinda Campos-Xavier, Danielle Martinet, John Bateman, et al.
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