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American Journal of Human Genetics|November 26, 2008
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeAnas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, et al.HGG Advances|July 21, 2022
Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in <i>ASCC3</i>Divya Nair, Dong Li, Hannah Erdogan, et al.HGG Advances|January 20, 2022
Discovery of a neuromuscular syndrome caused by biallelic variants in <i>ASCC3</i>Divya Nair, Dong Li, Hannah Erdogan, et al.European Journal of Human Genetics : EJHG|March 19, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.American Journal of Human Genetics|November 26, 2018
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating DefectsNiki T Loges, Dinu Antony, Ales Maver, et al.Journal of Neuromuscular Diseases|February 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesMarco Savarese, Mridul Johari, Katherine Johnson, et al.Birth Defects Research|March 3, 2018
Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sampleNina Ishorst, Paola Francheschelli, Anne C Böhmer, et al.Human Genetics|October 13, 2020
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathyAshfaque Ahmed, Meng Wang, Gaber Bergant, et al.Journal of Autism and Developmental Disorders|May 25, 2026
Insight into Haploinsufficiency of the ERBB4 Gene: Expanding the Spectrum of Associated PhenotypesIrene Mademont-Soler, Maria Camós-Carreras, Aurore Garde, et al.The Journal of Clinical Investigation|September 18, 2025
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse developmentXiaoxia Peng, Xiangbin Jia, Hanying Wang, et al.Pageof 27