Prati
Katie Rudd
Katie Rudd
Medical Director, ARUP Laboratories
Potvrđena adresa e-pošte na aruplab.com
Naslov
Citirano
Citirano
Godina
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
6082001
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
5002011
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
3312011
Human structural variation: mechanisms of chromosome rearrangements
B Weckselblatt, MK Rudd
Trends in Genetics 31 (10), 587-599, 2015
2602015
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
2532010
Analysis of the centromeric regions of the human genome assembly
MK Rudd, HF Willard
Trends in genetics 20 (11), 529-533, 2004
1972004
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
1682015
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
1632006
The evolutionary dynamics of α-satellite
MK Rudd, GA Wray, HF Willard
Genome research 16 (1), 88-96, 2006
1572006
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
1072013
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
1062013
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
1062010
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
932007
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
892014
Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis
B Weckselblatt, KE Hermetz, MK Rudd
Genome research 25 (7), 937-947, 2015
872015
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
772009
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
662003
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
652006
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
592009
Sequence organization and functional annotation of human centromeres
MK Rudd, MG Schueler, HF Willard
Cold Spring Harbor symposia on quantitative biology 68, 141-150, 2003
552003
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