Associated Papers
Monogenic Forms of DSD: An Update.
McElreavey K et al.
Hormone Research in Paediatrics, 2023
DHX37 and 46,XY DSD: A New Ribosomopathy?
McElreavey K et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
McElreavey K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
The DEAH-box RNA helicase Dhr1 contains a remarkable carboxyl terminal domain essential for small ribosomal subunit biogenesis.
Roychowdhury A et al.
Nucleic Acids Research, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I et al.
American Journal of Human Genetics, 2019
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Karaca E et al.
Neuron, 2015
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