Articles with public access mandates - Katie RuddLearn more
Available somewhere: 23
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
Human structural variation: mechanisms of chromosome rearrangements
B Weckselblatt, MK Rudd
Trends in Genetics 31 (10), 587-599, 2015
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health, Autism Speaks Inc, USA
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
Mandates: US National Institutes of Health
Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis
B Weckselblatt, KE Hermetz, MK Rudd
Genome research 25 (7), 937-947, 2015
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
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
Mandates: US National Institutes of Health
Recurrent deletions and duplications of chromosome 2q11. 2 and 2q13 are associated with variable outcomes
KN Riley, LM Catalano, JA Bernat, SD Adams, DM Martin, SR Lalani, ...
American journal of medical genetics Part A 167 (11), 2664-2673, 2015
Mandates: US National Institutes of Health
Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements
Y Luo, KE Hermetz, JM Jackson, JG Mulle, A Dodd, KD Tsuchiya, ...
Human molecular genetics 20 (19), 3769-3778, 2011
Mandates: US National Institutes of Health
Mouse model implicates GNB3 duplication in a childhood obesity syndrome
IS Goldlust, KE Hermetz, LM Catalano, RT Barfield, R Cozad, G Wynn, ...
Proceedings of the National Academy of Sciences 110 (37), 14990-14994, 2013
Mandates: US National Institutes of Health
Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities
H Mason-Suares, W Kim, L Grimmett, ES Williams, VL Horner, D Kunig, ...
Genetics in Medicine 15 (9), 706-712, 2013
Mandates: US National Institutes of Health
A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband
NKA Wilson, Y Lee, R Long, K Hermetz, MK Rudd, R Miller, JL Rapoport, ...
Case reports in genetics 2011 (1), 585893, 2011
Mandates: US National Institutes of Health
A recurrent translocation is mediated by homologous recombination between HERV-H elements
KE Hermetz, U Surti, JD Cody, MK Rudd
Molecular Cytogenetics 5, 1-8, 2012
Mandates: US National Institutes of Health
Comparative sequence analysis of primate subtelomeres originating from a chromosome fission event
MK Rudd, RLM Endicott, C Friedman, M Walker, JM Young, K Osoegawa, ...
Genome research 19 (1), 33-41, 2009
Mandates: US National Institutes of Health
Large contiguous gene deletions in Sjögren–Larsson syndrome
H Engelstad, G Carney, D S'aulis, J Rise, WG Sanger, MK Rudd, ...
Molecular genetics and metabolism 104 (3), 356-361, 2011
Mandates: US National Institutes of Health
Development of genomic resources for the prairie vole (Microtus ochrogaster): construction of a BAC library and vole-mouse comparative cytogenetic map
LA McGraw, JK Davis, JJ Lowman, BFH ten Hallers, M Koriabine, ...
BMC genomics 11, 1-8, 2010
Mandates: US National Institutes of Health
GNB3 overexpression causes obesity and metabolic syndrome
AC Ozdemir, GM Wynn, A Vester, MN Weitzmann, GN Neigh, ...
PloS one 12 (12), e0188763, 2017
Mandates: US National Institutes of Health
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