Scott McLean

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

Pengfei Liu, Ayelet Erez, Sandesh C. Sreenath Nagamani et al. · Cell · 2011 · 461 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain et al. · The American Journal of Human Genetics · 2017 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical spectrum of <i>SIX3</i>-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

Felicitas Lacbawan, Benjamin D. Solomon, Erich Roessler et al. · Journal of Medical Genetics · 2009 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Bret L. Bostwick, Scott McLean, Jennifer E. Posey et al. · Genome Medicine · 2017 · 76 citations · Full text

Medicine, Genetics, Molecular Genetics +17

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive

Mari Tokita, Alicia Braxton, Yunru Shao et al. · The American Journal of Human Genetics · 2016 · 68 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16