Solveig Heide

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro et al. · The American Journal of Human Genetics · 2020 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne, Caroline Nava, Boris Keren et al. · Human Genetics · 2017 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex

Livia Parodi, Silvia Fenu, Mathieu Barbier et al. · Brain · 2018 · 111 citations · Full text

Life Sciences, Genetics, Neurology +17

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

Elouan Chérot, Boris Keren, Christèle Dubourg et al. · Clinical Genetics · 2017 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss, Hayley P. Lazar, Alina Kurolap et al. · Genetics in Medicine · 2019 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12