Michael J. Friez

ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2013 · 910 citations · Full text

Translational Medicine, Dna Sequencing, Sequencing +8

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

Gevork N. Mnatzakanian, Hannes Lohi, Iulia Munteanu et al. · Nature Genetics · 2004 · 343 citations · Full text

Disease Mechanism, Genetic Disorder, Rett Syndrome +6

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 · 309 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Epigenetic Change +11

Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian Failure

Sherman J. Silber, K. Lenahan, David J. Levine et al. · New England Journal of Medicine · 2005 · 257 citations · Full text

Oocyte, Fertility, Genetics +21

Mediator Links Epigenetic Silencing of Neuronal Gene Expression with X-Linked Mental Retardation

Ning Ding, Haiying Zhou, Pierre-Olivier Estève et al. · Molecular Cell · 2008 · 228 citations · Full text

Chromatin, Molecular Neuroscience, Developmental Biology +12