Goran Čuturilo

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Niki T. Loges, Dinu Antony, Aleš Maver et al. · The American Journal of Human Genetics · 2018 · 138 citations · Full text

Chromatin, Genome Instability, Developmental Biology +14

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 102 citations · Full text

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

Samuel J. R. A. Chawner, Joanne Doherty, Richard Anney et al. · American Journal of Psychiatry · 2021 · 95 citations · Full text

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases

Gaber Bergant, Aleš Maver, Luca Lovrečić et al. · Genetics in Medicine · 2017 · 85 citations · Full text

Disease Diagnosis, Engineering, Mendelian Disorder +12

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

Yline Capri, Elisabetta Flex, Oliver H.F. Krumbach et al. · The American Journal of Human Genetics · 2019 · 80 citations · Full text

Rare Cause, Genetics, Pathology +4