Marjorie Withers
Baylor College of Medicine(US)Baylor Genetics(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Genomics and Rare Diseases, Genomics and Chromatin Dynamics, RNA and protein synthesis mechanisms
Most-Cited Works
- → Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements(2011)459 cited
- → Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism Phenotype(2007)426 cited
- → Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion(2000)422 cited
- → Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy(2015)244 cited
- → Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome(2011)226 cited
- → Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function(2014)220 cited
- → Increased LIS1 expression affects human and mouse brain development(2009)220 cited
- → Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes(2016)187 cited
- → Genome Architecture Catalyzes Nonrecurrent Chromosomal Rearrangements(2003)185 cited
- → Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia(2005)181 cited