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European Journal of Human Genetics : EJHG|October 18, 2012
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585Julia Schreml, Markus Riessland, Mario Paterno, et al.
American Journal of Human Genetics|August 7, 2012
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callusOliver Semler, Lutz Garbes, Katharina Keupp, et al.
American Journal of Medical Genetics. Part A|August 6, 2013
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?Nicola Dikow, Bianca Maas, Harald Gaspar, et al.
American Journal of Human Genetics|February 17, 2015
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfectaLutz Garbes, Kyungho Kim, Angelika Rieß, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophyKornelia Neveling, Lilian A Martinez-Carrera, Irmgard Hölker, et al.
American Journal of Human Genetics|January 31, 2017
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired EndocytosisMarkus Riessland, Anna Kaczmarek, Svenja Schneider, et al.
American Journal of Human Genetics|October 1, 2019
Autosomal-Recessive Mutations in MESD Cause Osteogenesis ImperfectaShahida Moosa, Guilherme L Yamamoto, Lutz Garbes, et al.
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