M. Katharine Rudd: search on Z-Library

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1

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes

Riley, Kacie N., Catalano, Lisa M., Bernat, John A., Adams, Stacie D., Martin, Donna M., Lalani, Seema R., Patel, Ankita, Burnside, Rachel D., Innis, Jeffrey W., Rudd, M. Katharine

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 978 KB

english, 2015

2

Discovery of Vaniprevir (MK-7009), a Macrocyclic Hepatitis C Virus NS3/4a Protease Inhibitor

McCauley, John A., McIntyre, Charles J., Rudd, Michael T., Nguyen, Kevin T., Romano, Joseph J., Butcher, John W., Gilbert, Kevin F., Bush, Kimberly J., Holloway, M. Katharine, Swestock, John

Journal:

Journal of Medicinal Chemistry

Year:

2010

Language:

english

File:

PDF, 1.44 MB

english, 2010

3

Discovery of MK-5172, a Macrocyclic Hepatitis C Virus NS3/4a Protease Inhibitor

Koch, Uwe, Petrocchi, Alessia, Holloway, M. Katharine, Butcher, John W., Harper, Steven, McCauley, John A., Rudd, Michael T., Ferrara, Marco, DiFilippo, Marcello, Crescenzi, Benedetta

Journal:

ACS Medicinal Chemistry Letters

Year:

2012

Language:

english

File:

PDF, 2.10 MB

english, 2012

4

Human structural variation: mechanisms of chromosome rearrangements

Weckselblatt, Brooke, Rudd, M. Katharine

Journal:

Trends in Genetics

Year:

2015

Language:

english

File:

PDF, 3.17 MB

english, 2015

5

Development of macrocyclic inhibitors of HCV NS3/4A protease with cyclic constrained P2–P4 linkers

Rudd, Michael T., McIntyre, Charles J., Romano, Joseph J., Butcher, John W., Holloway, M. Katharine, Bush, Kimberly, Nguyen, Kevin T., Gilbert, Kevin F., Lyle, Terry A., Liverton, Nigel J., Wan, Bang-

Journal:

Bioorganic & Medicinal Chemistry Letters

Year:

2012

Language:

english

File:

PDF, 2.24 MB

english, 2012

6

Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints

Newman, Scott, Hermetz, Karen E., Weckselblatt, Brooke, Rudd, M. Katharine

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.64 MB

english, 2015

7

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis

Weckselblatt, Brooke, Hermetz, Karen E., Rudd, M. Katharine

Journal:

Genome Research

Year:

2015

Language:

english

File:

PDF, 1.17 MB

english, 2015

8

Monosomy X rescue explains discordant NIPT results and leads to uniparental isodisomy

Rudd, M. Katharine, Schleede, Justin B., Williams, Sabrina R., Lee, Kristy, Laffin, Jennifer, Pasion, Romela, Papenhausen, Peter R.

Journal:

Prenatal Diagnosis

Year:

2018

Language:

english

File:

PDF, 532 KB

english, 2018

9

Large contiguous gene deletions in Sjögren–Larsson syndrome

Holly Engelstad, Gael Carney, Dana S'Aulis, Janae Rise, Warren G. Sanger, M. Katharine Rudd, Gabriele Richard, Christopher W. Carr, Omar A. Abdul-Rahman, William B. Rizzo

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 598 KB

english, 2011

10

The Evolutionary Origin of Man Can Be Traced in the Layers of Defunct Ancestral Alpha Satellites Flanking the Active Centromeres of Human Chromosomes

Shepelev, Valery A., Alexandrov, Alexander A., Yurov, Yuri B., Alexandrov, Ivan A., Rudd, M. Katharine

Journal:

Year:

2009

Language:

english

File:

PDF, 413 KB

english, 2009

11

Development of potent macrocyclic inhibitors of genotype 3a HCV NS3/4A protease

Rudd, Michael T., McCauley, John A., Romano, Joseph J., Butcher, John W., Bush, Kimberly, McIntyre, Charles J., Nguyen, Kevin T., Gilbert, Kevin F., Lyle, Terry A., Holloway, M. Katharine, Wan, Bang-L

Journal:

Bioorganic & Medicinal Chemistry Letters

Year:

2012

Language:

english

File:

PDF, 2.74 MB

english, 2012

12

Elevated Rates of Sister Chromatid Exchange at Chromosome Ends

Rudd, M. Katharine, Friedman, Cynthia, Parghi, Sean S., Linardopoulou, Elena V., Hsu, Li, Trask, Barbara J.

Journal:

Year:

2007

Language:

english

File:

PDF, 246 KB

english, 2007

13

Discovery of MK-1220: A Macrocyclic Inhibitor of Hepatitis C Virus NS3/4A Protease with Improved Preclinical Plasma Exposure

Rudd, Michael T., McCauley, John A., Butcher, John W., Romano, Joseph J., McIntyre, Charles J., Nguyen, Kevin T., Gilbert, Kevin F., Bush, Kimberly J., Holloway, M. Katharine, Swestock, John, Wan, Ban

Journal:

ACS Medicinal Chemistry Letters

Year:

2011

Language:

english

File:

PDF, 1016 KB

english, 2011

14

Terminal 18q deletions are stabilized by neotelomeres

Guilherme, Roberta Santos, Hermetz, Karen E, Varela, Patrícia Teixeira, Perez, Ana Beatriz Alvarez, Meloni, Vera Ayres, Rudd, M Katharine, Kulikowski, Leslie Domenici, Melaragno, Maria Isabel

Journal:

Molecular Cytogenetics

Year:

2015

Language:

english

File:

PDF, 1.46 MB

english, 2015

15

Integrating 5-Hydroxymethylcytosine into the Epigenomic Landscape of Human Embryonic Stem Cells

Szulwach, Keith E., Li, Xuekun, Li, Yujing, Song, Chun-Xiao, Han, Ji Woong, Kim, SangSung, Namburi, Sandeep, Hermetz, Karen, Kim, Julie J., Rudd, M. Katharine, Yoon, Young-Sup, Ren, Bing, He, Chuan, J

Journal:

Year:

2011

Language:

english

File:

PDF, 3.64 MB

english, 2011

16

The virtual diagnostic laboratory: A new way of teaching undergraduate medical students about genetic testing

Bean, Lora J., Fridovich-Keil, Judith, Hegde, Madhuri, Rudd, M. Katharine, Garber, Kathryn B.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 164 KB

english, 2011

17

Molecular Modeling Based Approach to Potent P2−P4 Macrocyclic Inhibitors of Hepatitis C NS3/4A Protease

Liverton, Nigel J., Holloway, M. Katharine, McCauley, John A., Rudd, Michael T., Butcher, John W., Carroll, Steven S., DiMuzio, Jillian, Fandozzi, Christine, Gilbert, Kevin F., Mao, Shi-Shan, McIntyre

Journal:

Journal of the American Chemical Society

Year:

2008

Language:

english

File:

PDF, 378 KB

english, 2008

18

Assembly and characterization of heterochromatin and euchromatin on human artificial chromosomes

Brenda R Grimes, Jennifer Babcock, M Katharine Rudd, Brian Chadwick…

Journal:

Year:

2004

Language:

english

File:

PDF, 6.43 MB

english, 2004

19

Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism

Hermetz, Karen E., Newman, Scott, Conneely, Karen N., Martin, Christa L., Ballif, Blake C., Shaffer, Lisa G., Cody, Jannine D., Rudd, M. Katharine, Sullivan, Beth A.

Journal:

Year:

2014

Language:

english

File:

PDF, 3.61 MB

english, 2014

20

P2-Quinazolinones and Bis-Macrocycles as New Templates for Next-Generation Hepatitis C Virus NS3/4a Protease Inhibitors: Discovery of MK-2748 and MK-6325

Rudd, Michael T., Butcher, John W., Nguyen, Kevin T., McIntyre, Charles J., Romano, Joseph J., Gilbert, Kevin F., Bush, Kimberly J., Liverton, Nigel J., Holloway, M. Katharine, Harper, Steven, Ferrara

Journal:

Year:

2015

Language:

english

File:

PDF, 791 KB

english, 2015

21

A recurrent translocation is mediated by homologous recombination between HERV-H elements

Karen E Hermetz, Urvashi Surti, Jannine D Cody, M Katharine Rudd

Journal:

Molecular Cytogenetics

Year:

2012

Language:

english

File:

PDF, 221 KB

english, 2012

22

A 360-kb interchromosomal duplication of the human HYDIN locus

Norman A. Doggett, Gary Xie, Linda J. Meincke, Robert D. Sutherland, Mark O. Mundt, Nicolas S. Berbari, Brian E. Davy, Michael L. Robinson, M. Katharine Rudd, James L. Weber, Raymond L. Stallings, Cli

Journal:

Year:

2006

Language:

english

File:

PDF, 721 KB

english, 2006

23

VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5

Hwang, Samuel, Rudd, Mary Katharine, Finch, Lisa, Peterson, Suzanne E., Kapur, Raj P.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 2.03 MB

english, 2018

24

Analysis of the centromeric regions of the human genome assembly

M. Katharine Rudd, Huntington F. Willard

Journal:

Trends in Genetics

Year:

2004

Language:

english

File:

PDF, 168 KB

english, 2004

25

Microdeletions of 3q29 Confer High Risk for Schizophrenia

Jennifer Gladys Mulle, Anne F. Dodd, John A. McGrath, Paula S. Wolyniec, Adele A. Mitchell, Amol C. Shetty, Nara L. Sobreira, David Valle, M. Katharine Rudd, Glen Satten, David J. Cutler, Ann E. Pulve

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 765 KB

english, 2010

26

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

Tsuchiya, Karen D, Shaffer, Lisa G, Aradhya, Swaroop, Gastier-Foster, Julie M, Patel, Ankita, Rudd, M Katharine, Biggerstaff, Julie Sanford, Sanger, Warren G, Schwartz, Stuart, Tepperberg, James H, Th

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 560 KB

english, 2009

27

Development of genomic resources for the prairie vole (Microtus ochrogaster): construction of a BAC library and vole-mouse comparative cytogenetic map

Lisa A McGraw, Jamie K Davis, Josh J Lowman, Boudewijn FH ten Hallers, Maxim Koriabine, Larry J Young, Pieter J de Jong, M Katharine Rudd, James W Thomas

Journal:

Year:

2010

Language:

english

File:

PDF, 869 KB

english, 2010

28

A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS Proband

Wilson, Nicole K. A., Lee, Yohan, Long, Robert, Hermetz, Karen, Rudd, M. Katharine, Miller, Rachel, Rapoport, Judith L., Addington, Anjené M.

Journal:

Case Reports in Genetics

Year:

2011

Language:

english

File:

PDF, 2.63 MB

english, 2011

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