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 · 930 citations · Full text

Life Sciences, Biomedical Informatics, Molecular Biology +14

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 · 346 citations

Life Sciences, Genetics, Molecular Biology +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 · 334 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 259 citations · Full text

Medicine, Genetics, Gynecology +12

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 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16