Barbara Mikat

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia et al. · Human Molecular Genetics · 2013 · 227 citations · Full text

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Gabriela Jones, Pia Østergaard, Anthony T. Moore et al. · European Journal of Human Genetics · 2013 · 90 citations · Full text

Genetic Disorder, Kif11 Mutations, Pathology +6

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi et al. · The American Journal of Human Genetics · 2018 · 48 citations · Full text

<i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond

Ilaria Parenti, Mark Mallozzi, Irina Hüning et al. · Clinical Genetics · 2021 · 42 citations · Full text

Genetics, Genetic Epidemiology, Pathology +16

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

Dara Tolchin, J. Paige Yeager, Priya Prasad et al. · The American Journal of Human Genetics · 2020 · 34 citations · Full text

Developmental Anomaly, Neurodevelopmental Syndrome Associated, Developmental Biology +7