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International Journal of Obesity (2005)|March 24, 2018
Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiencyKatja Kohlsdorf, Adriana Nunziata, Jan-Bernd Funcke, et al.
American Journal of Medical Genetics. Part A|April 10, 2014
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutationsBertrand Isidor, Tiphaine Lefebvre, Claudine Le Vaillant, et al.
Human Molecular Genetics|September 14, 2014
ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cellsEva L Morozko, Ayako Nishio, Neil J Ingham, et al.
Molecular Genetics & Genomic Medicine|January 3, 2019
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and PakistanDulce Lima Cunha, Omar Mohammed Alakloby, Robert Gruber, et al.
American Journal of Medical Genetics. Part A|April 4, 2017
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndromeNicola Dikow, Martin Granzow, Luitgard M Graul-Neumann, et al.
European Journal of Human Genetics : EJHG|February 22, 2018
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9Fanny Kortüm, Rami Abou Jamra, Malik Alawi, et al.
Human Genetics|March 12, 2014
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutationsLina Basel-Vanagaite, Rüstem Yilmaz, Sha Tang, et al.
The Journal of Experimental Medicine|October 23, 2013
A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombinationElin Enervald, Likun Du, Torkild Visnes, et al.
American Journal of Human Genetics|August 13, 2013
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosumLina Basel-Vanagaite, Tova Hershkovitz, Eli Heyman, et al.
Plos Genetics|March 12, 2016
Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative GeneKerstin U Ludwig, Syeda Tasnim Ahmed, Anne C Böhmer, et al.
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