Margit Nõukas

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Joseph Glessner, Eleonora Porcu et al. · Cell · 2022 · 360 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

Katrin Männik, Reedik Mägi, Aurélien Macé et al. · JAMA · 2015 · 218 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of ALK in Thinness

Michael Orthofer, Armand Valsesia, Reedik Mägi et al. · Cell · 2020 · 110 citations · Full text

Natural Sciences, Chemistry, Thin Films +2

<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

In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

Masoud Zamani Esteki, Triin Viltrop, Olga Tšuiko et al. · Nature Medicine · 2019 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11