Sylvie Picker‐Minh

Redefining the MED13L syndrome

Abidemi Adegbola, Luciana Musante, Bert Callewaert et al. · European Journal of Human Genetics · 2015 · 80 citations · Full text

Mendelian Disorder, Clinical Translation, Genetic Disorder +3

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Thomas Smol, Florence Petit, Amélie Piton et al. · Neurogenetics · 2018 · 42 citations

Intellectual Impairment, Genetic Disorder, Med13l-related Intellectual Disability +6

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia

Gudrun Schottmann, Sylvie Picker‐Minh, Jana Marie Schwarz et al. · Mitochondrion · 2017 · 37 citations

Mendelian Disorder, Mitochondrial Function, Mitochondrial Dysfunction +8

Mutations in the tRNA methyltransferase 1 gene <i>TRMT1</i> cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability

Kathrin Blaesius, Ansar Ahmed Abbasi, Tufail Hussain Tahir et al. · American Journal of Medical Genetics Part A · 2018 · 37 citations

Genetics, Molecular Genetics, Disease Gene Identification +18

Identification of a novel homozygous <i>TRAPPC9</i> gene mutation causing non‐syndromic intellectual disability, speech disorder, and secondary microcephaly

Ansar Ahmed Abbasi, Kathrin Blaesius, Hao Hu et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2017 · 31 citations