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American Journal of Human Genetics|December 3, 2014
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndromeMuhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, et al.Journal of Medical Genetics|June 28, 2006
A molecular and clinical study of Larsen syndrome caused by mutations in FLNBLouise S Bicknell, Claire Farrington-Rock, Yousef Shafeghati, et al.American Journal of Human Genetics|October 23, 2018
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal FeaturesPeter D Turnpenny, Michael J Wright, Melissa Sloman, et al.Nature Genetics|March 2, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndromeLouise S Bicknell, Ernie M H F Bongers, Andrea Leitch, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2Hemant Bengani, Mark Handley, Mohsan Alvi, et al.Human Genetics|February 22, 2018
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomaliesFabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, et al.American Journal of Human Genetics|September 22, 2015
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6Ilham Ratbi, Kim D Falkenberg, Manou Sommen, et al.Journal of Medical Genetics|February 2, 2018
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHDKatrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, et al.Prenatal Diagnosis|November 3, 2017
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencingKaren L Stals, Matthew Wakeling, Júlia Baptista, et al.Nature Genetics|September 19, 2018
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylationM Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, et al.Pageof 5