Tiia Reimand

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer et al. · European Journal of Medical Genetics · 2009 · 218 citations

Life Sciences, Genetics, Molecular Genetics +14

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

David B. Beck, Ana Petracovici, Chongsheng He et al. · The American Journal of Human Genetics · 2020 · 112 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Biallelic <i>CACNA1A</i> mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy

Karit Reinson, Eve Õiglane‐Shlik, Inga Talvik et al. · American Journal of Medical Genetics Part A · 2016 · 84 citations

Life Sciences, Genetics, Neurology +17

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Markus Zweier, Anaïs Begemann, Kirsty McWalter et al. · European Journal of Human Genetics · 2019 · 73 citations · Full text

Life Sciences, Genetics, Molecular Biology +9

<i>De Novo</i> <i>SCN8A</i> Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

Ulvi Vaher, Margit Nõukas, Tiit Nikopensius et al. · Journal of Child Neurology · 2013 · 67 citations

Life Sciences, Genetics, Molecular Genetics +17