Genomic and genetic definition of a functional human centromere MG Schueler, AW Higgins, MK Rudd, K Gustashaw, HF Willard Science 294 (5540), 109-115, 2001 | 616 | 2001 |
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities EB Kaminsky, V Kaul, J Paschall, DM Church, B Bunke, D Kunig, ... Genetics in medicine 13 (9), 777-784, 2011 | 519 | 2011 |
Integrating 5-hydroxymethylcytosine into the epigenomic landscape of human embryonic stem cells KE Szulwach, X Li, Y Li, CX Song, JW Han, SS Kim, S Namburi, ... PLoS genetics 7 (6), e1002154, 2011 | 344 | 2011 |
Human structural variation: mechanisms of chromosome rearrangements B Weckselblatt, MK Rudd Trends in Genetics 31 (10), 587-599, 2015 | 275 | 2015 |
Microdeletions of 3q29 confer high risk for schizophrenia JG Mulle, AF Dodd, JA McGrath, PS Wolyniec, AA Mitchell, AC Shetty, ... The American Journal of Human Genetics 87 (2), 229-236, 2010 | 254 | 2010 |
Analysis of the centromeric regions of the human genome assembly MK Rudd, HF Willard Trends in genetics 20 (11), 529-533, 2004 | 201 | 2004 |
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints S Newman, KE Hermetz, B Weckselblatt, MK Rudd The American Journal of Human Genetics 96 (2), 208-220, 2015 | 183 | 2015 |
Human centromeric chromatin is a dynamic chromosomal domain that can spread over noncentromeric DNA AL Lam, CD Boivin, CF Bonney, MK Rudd, BA Sullivan Proceedings of the National Academy of Sciences 103 (11), 4186-4191, 2006 | 165 | 2006 |
The evolutionary dynamics of α-satellite MK Rudd, GA Wray, HF Willard Genome research 16 (1), 88-96, 2006 | 165 | 2006 |
Subtelomeric hotspots of aberrant 5-hydroxymethylcytosine-mediated epigenetic modifications during reprogramming to pluripotency T Wang, H Wu, Y Li, KE Szulwach, L Lin, X Li, IP Chen, IS Goldlust, ... Nature cell biology 15 (6), 700-711, 2013 | 110 | 2013 |
Sequences associated with centromere competency in the human genome KE Hayden, ED Strome, SL Merrett, HR Lee, MK Rudd, HF Willard Molecular and cellular biology 33 (4), 763-772, 2013 | 110 | 2013 |
Identification of a recurrent microdeletion at 17q23. 1q23. 2 flanked by segmental duplications associated with heart defects and limb abnormalities BC Ballif, A Theisen, JA Rosenfeld, RN Traylor, J Gastier-Foster, ... The American Journal of Human Genetics 86 (3), 454-461, 2010 | 110 | 2010 |
Elevated rates of sister chromatid exchange at chromosome ends MK Rudd, C Friedman, SS Parghi, EV Linardopoulou, L Hsu, BJ Trask PLoS Genetics 3 (2), e32, 2007 | 94 | 2007 |
Large inverted duplications in the human genome form via a fold-back mechanism KE Hermetz, S Newman, KN Conneely, CL Martin, BC Ballif, LG Shaffer, ... PLoS genetics 10 (1), e1004139, 2014 | 93 | 2014 |
Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis B Weckselblatt, KE Hermetz, MK Rudd Genome research 25 (7), 937-947, 2015 | 91 | 2015 |
Segmental duplications mediate novel, clinically relevant chromosome rearrangements MK Rudd, J Keene, B Bunke, EB Kaminsky, MP Adam, JG Mulle, ... Human molecular genetics 18 (16), 2957-2962, 2009 | 80 | 2009 |
A 360-kb interchromosomal duplication of the human HYDIN locus NA Doggett, G Xie, LJ Meincke, RD Sutherland, MO Mundt, NS Berbari, ... Genomics 88 (6), 762-771, 2006 | 68 | 2006 |
Human artificial chromosomes with alpha satellite-based de novo centromeres show increased frequency of nondisjunction and anaphase lag MK Rudd, RW Mays, S Schwartz, HF Willard Molecular and cellular biology 23 (21), 7689-7697, 2003 | 68 | 2003 |
Tandem repeats and G-rich sequences are enriched at human CNV breakpoints P Bose, KE Hermetz, KN Conneely, MK Rudd PLoS One 9 (7), e101607, 2014 | 62 | 2014 |
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories KD Tsuchiya, LG Shaffer, S Aradhya, JM Gastier-Foster, A Patel, MK Rudd, ... Genetics in Medicine 11 (12), 866-873, 2009 | 60 | 2009 |