María J. Guillen Sacoto

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

Davor Lessel, Christina Gehbauer, Nuria C. Bramswig et al. · Brain · 2018 · 132 citations · Full text

Bcl11b Mutations, Brain Development, Lymphocyte Development +21

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti et al. · The American Journal of Human Genetics · 2020 · 107 citations · Full text

Neurodevelopmental Disorders, Atpase Module, Developmental Anomaly +12

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Kezhi Yan, Justine Rousseau, Rebecca O. Littlejohn et al. · The American Journal of Human Genetics · 2016 · 102 citations · Full text

Chromatin, Genome Instability, Chromatin Structure +12

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

Claire Guissart, Xénia Latypova, Paul Rollier et al. · The American Journal of Human Genetics · 2018 · 81 citations · Full text

Molecular Neuroscience, Neurological Disorder, Genetic Disorder +13

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Elizabeth Bhoj, Dong Li, Margaret Harr et al. · The American Journal of Human Genetics · 2016 · 73 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8