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Campagne de collecte 15 septembre 2024 – 1 octobre 2024

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Articles (120)
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1

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yang, Yaping, Muzny, Donna M., Reid, Jeffrey G., Bainbridge, Matthew N., Willis, Alecia, Ward, Patricia A., Braxton, Alicia, Beuten, Joke, Xia, Fan, Niu, Zhiyv, Hardison, Matthew, Person, Richard, Bek

Journal:

New England Journal of Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 538 KB

english, 2013

2

Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study

Feofanova, Elena V., Yu, Bing, Metcalf, Ginger A., Liu, Xiaoming, Muzny, Donna, Below, Jennifer E., Wagenknecht, Lynne E., Gibbs, Richard A., Morrison, Alanna C., Boerwinkle, Eric

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 625 KB

english, 2018

3

Two independent mutational events in the loss of urate oxidase during hominoid evolution

Xiangwei Wu, Donna M. Muzny, Cheng Chi Lee, C. Thomas Caskey

Journal:

Journal of Molecular Evolution

Année:

1992

Langue:

english

Fichier:

PDF, 1.25 MB

english, 1992

4

Genome sequence of the Brown Norway rat yields insights into mammalian evolution

Gibbs, Richard A., Weinstock, George M., Metzker, Michael L., Muzny, Donna M., Sodergren, Erica J., Scherer, Steven, Scott, Graham, Steffen, David, Worley, Kim C., Burch, Paula E.

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2004

5

Somatic mutations affect key pathways in lung adenocarcinoma

Ding, Li, Getz, Gad, Wheeler, David A., Mardis, Elaine R., McLellan, Michael D., Cibulskis, Kristian, Sougnez, Carrie, Greulich, Heidi, Muzny, Donna M., Morgan, Margaret B.

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 566 KB

english, 2008

6

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)

Bi, Weimin, Glass, Ian A., Muzny, Donna M., Gibbs, Richard A., Eng, Christine M., Yang, Yaping, Sun, Angela

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 464 KB

english, 2016

7

Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism

Tanner, Julie-Anne, Zhu, Andy Z., Claw, Katrina G., Prasad, Bhagwat, Korchina, Viktoriya, Hu, Jianhong, Doddapaneni, HarshaVardhan, Muzny, Donna M., Schuetz, Erin G., Lerman, Caryn, Thummel, Kenneth E

Journal:

Pharmacogenetics and Genomics

Année:

2018

Langue:

english

Fichier:

PDF, 339 KB

english, 2018

8

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

Du, Renqian, Dinckan, Nuriye, Song, Xiaofei, Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Guven, Yeliz, Aktoren, Oya, Kayserili, Hulya, Petty, Lauren E., Muzny, Donna M., Below, Jennifer E., Boerwink

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 2.59 MB

english, 2018

9

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Feliciano, Pamela, Zhou, Xueya, Astrovskaya, Irina, Turner, Tychele N., Wang, Tianyun, Brueggeman, Leo, Barnard, Rebecca, Hsieh, Alexander, Snyder, LeeAnne Green, Muzny, Donna M., Sabo, Aniko, Gibbs,

Journal:

npj Genomic Medicine

Année:

2019

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2019

10

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

Yin, Jiani, Chun, Chun-An, Zavadenko, Nikolay N., Pechatnikova, Natalia L., Naumova, Oxana Yu., Doddapaneni, Harsha V., Hu, Jianhong, Muzny, Donna M., Schaaf, Christian P., Grigorenko, Elena L.

Journal:

Année:

2020

Fichier:

PDF, 246 KB

2020

11

Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria

David R. Murdock, Gary D. Clark, Matthew N. Bainbridge, Irene Newsham, Yuan-Qing Wu, Donna M. Muzny, Sau Wai Cheung, Richard A. Gibbs, Melissa B. Ramocki

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 992 KB

english, 2011

12

Common and rare variants of DAOA in bipolar disorder

Manjula Maheshwari, Jiajun Shi, Judith A. Badner, Andrew Skol, Virginia L. Willour, Donna M. Muzny, David A. Wheeler, Fowler R. Gerald, Sevilla Detera-Wadleigh, Francis J. McMahon, James B. Potash, El

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 110 KB

english, 2009

13

Single nucleotide polymorphism–mediated translational suppression of endoplasmic reticulum mannosidase I modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency

Shujuan Pan, Lu Huang, John McPherson, Donna Muzny, Farshid Rouhani, Mark Brantly, Richard Gibbs, Richard N. Sifers

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 647 KB

english, 2009

14

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis

Xia Wang, Hui Wang, Ming Cao, Zhe Li, Xianfeng Chen, Claire Patenia, Athurva Gore, Emad B. Abboud, Ali A. Al-Rajhi, Richard A. Lewis, James R. Lupski, Graeme Mardon, Kun Zhang, Donna Muzny, Richard A.

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 427 KB

english, 2011

15

Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta)

Gloria L Fawcett, Muthuswamy Raveendran, David Rio Deiros, David Chen, Fuli Yu, Ronald Alan Harris, Yanru Ren, Donna M Muzny, Jeffrey G Reid, David A Wheeler, Kimberly C Worley, Steven E Shelton, Ned

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 933 KB

english, 2011

16

High incidence of IDH mutations in acute myeloid leukaemia with cuplike nuclei

Dinesh Rakheja, Sergej Konoplev, Mu Su, David Wheeler, Donna M. Muzny, Vivian R. Ruvolo, Robert Collins, Nitin J. Karandikar, Michael Andreeff, Leonard Jeffrey Medeiros, Weina Chen

Journal:

British Journal of Haematology

Année:

2011

Langue:

english

Fichier:

PDF, 102 KB

english, 2011

17

Single nucleotide polymorphism in RECQL and survival in resectable pancreatic adenocarcinoma

Ronald T. Cotton, Donghui Li, Steven E. Scherer, Donna M. Muzny, Sally E. Hodges, Robbi L. Catania, Agnieszka K. Witkiewicz, Jonathan R. Brody, Eugene P. Kennedy, Charles J. Yeo, F. Charles Brunicardi

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 345 KB

english, 2009

18

Characterization of a murine gene expressed from the inactive X chromosome

Borsani, Giuseppe, Tonlorenzi, Rossana, Simmler, M. Christine, Dandolo, Luisa, Arnaud, Danielle, Capra, Valeria, Grompe, Markus, Pizzuti, Antonio, Muzny, Donna, Lawrence, Charles

Journal:

Année:

1991

Fichier:

PDF, 739 KB

1991

19

10.1038/998

Reiter, Lawrence, Murakami, Tatsufumi, Koeuth, Thearith, Pentao, Liu, Muzny, Donna, Gibbs, Richard, Lupski, James

Journal:

Nature Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 48 KB

english, 1998

20

The DNA sequence of the human X chromosome

Ross, Mark T., Grafham, Darren V., Coffey, Alison J., Scherer, Steven, McLay, Kirsten, Muzny, Donna, Platzer, Matthias, Howell, Gareth R., Burrows, Christine, Bird, Christine P.

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 515 KB

english, 2005

21

The finished DNA sequence of human chromosome 12

Gunaratne, Preethi, Harris, R. Alan, Scherer, Steven E., Muzny, Donna M., Buhay, Christian J., Chen, Rui, Cree, Andrew, Ding, Yan, Dugan-Rocha, Shannon, Gill, Rachel

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 363 KB

english, 2006

22

The DNA sequence, annotation and analysis of human chromosome 3

Muzny, Donna M., Scherer, Steven E., Kaul, Rajinder, Wang, Jing, Yu, Jun, Sudbrak, Ralf, Buhay, Christian J., Chen, Rui, Cree, Andrew, Ding, Yan

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 396 KB

english, 2006

23

Comparative and demographic analysis of orang-utan genomes

Locke, Devin P., Hillier, LaDeana W., Warren, Wesley C., Worley, Kim C., Nazareth, Lynne V., Muzny, Donna M., Yang, Shiaw-Pyng, Wang, Zhengyuan, Chinwalla, Asif T., Minx, Pat

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 863 KB

english, 2011

24

10.1038/nbt0901-789

Reiter, Lawrence, Murakami, Tatsufumi, Koeuth, Thearith, Pentao, Liu, Muzny, Donna, Gibbs, Richard, Lupski, James

Journal:

Nature Biotechnology

Année:

2001

Langue:

english

Fichier:

PDF, 33 KB

english, 2001

25

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

Reiter, Lawrence T., Murakami, Tatsufumi, Koeuth, Thearith, Pentao, Liu, Muzny, Donna M., Gibbs, Richard A., Lupski, James R.

Journal:

Nature Genetics

Année:

1996

Fichier:

PDF, 1.42 MB

1996

26

Direct selection of human genomic loci by microarray hybridization

Albert, Thomas J, Molla, Michael N, Muzny, Donna M, Nazareth, Lynne, Wheeler, David, Song, Xingzhi, Richmond, Todd A, Middle, Chris M, Rodesch, Matthew J, Packard, Charles J

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 213 KB

english, 2007

27

Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel

Sharon E. Plon, David A. Wheeler, Louise C. Strong, Gail E. Tomlinson, Michael Pirics, Qingchang Meng, Hannah C. Cheung, Phyllis R. Begin, Donna M. Muzny, Lora Lewis, Jaclyn A. Biegel, Richard A. Gibb

Journal:

Cancer Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 385 KB

english, 2011

28

Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

Tara Klassen, Caleb Davis, Alica Goldman, Dan Burgess, Tim Chen, David Wheeler, John McPherson, Traci Bourquin, Lora Lewis, Donna Villasana, Margaret Morgan, Donna Muzny, Richard Gibbs, Jeffrey Noebel

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 2.06 MB

english, 2011

29

Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing

Powell, Bradford C., Jiang, Lichun, Muzny, Donna M., Treviño, Lisa R., Dreyer, ZoAnn E., Strong, Louise C., Wheeler, David A., Gibbs, Richard A., Plon, Sharon E.

Journal:

Pediatric Blood & Cancer

Année:

2013

Langue:

english

Fichier:

PDF, 282 KB

english, 2013

30

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

Matthew N Bainbridge, Min Wang, Yuanqing Wu, Irene Newsham, Donna M Muzny, John L Jefferies, Thomas J Albert, Daniel L Burgess, Richard A Gibbs

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 351 KB

english, 2011

31

MLH1 -silenced and non-silenced subgroups of hypermutated colorectal carcinomas have distinct mutational landscapes

Donehower, Lawrence A, Creighton, Chad J, Schultz, Nikolaus, Shinbrot, Eve, Chang, Kyle, Gunaratne, Preethi H, Muzny, Donna, Sander, Chris, Hamilton, Stanley R, Gibbs, Richard A, Wheeler, David

Journal:

The Journal of Pathology

Année:

2013

Langue:

english

Fichier:

PDF, 573 KB

english, 2013

32

Deep Sequencing of Systematic Combinatorial Libraries Reveals β-Lactamase Sequence Constraints at High Resolution

Zhifeng Deng, Wanzhi Huang, Erol Bakkalbasi, Nicholas G. Brown, Carolyn J. Adamski, Kacie Rice, Donna Muzny, Richard A. Gibbs, Timothy Palzkill

Journal:

Journal of Molecular Biology

Année:

2012

Langue:

english

Fichier:

PDF, 2.08 MB

english, 2012

33

Complete genome sequence ofEnterococcus faeciumstrain TX16 and comparative genomic analysis ofEnterococcus faeciumgenomes

Xiang Qin, Jessica R Galloway-Peña, Jouko Sillanpaa, Jung Hyeob Roh, Sreedhar R Nallapareddy, Shahreen Chowdhury, Agathe Bourgogne, Tina Choudhury, Donna M Muzny, Christian J Buhay, Yan Ding, Shannon

Journal:

BMC Microbiology

Année:

2012

Langue:

english

Fichier:

PDF, 996 KB

english, 2012

34

Comprehensive molecular characterization of human colon and rectal cancer

Muzny, Donna M., Bainbridge, Matthew N., Chang, Kyle, Dinh, Huyen H., Drummond, Jennifer A., Fowler, Gerald, Kovar, Christie L., Lewis, Lora R., Morgan, Margaret B., Newsham, Irene F., Reid, Jeffrey G

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 1.31 MB

english, 2012

35

De novotruncating mutations inASXL3are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Bainbridge, Matthew N, Hu, Hao, Muzny, Donna M, Musante, Luciana, Lupski, James R, Graham, Brett H, Chen, Wei, Gripp, Karen W, Jenny, Kim, Wienker, Thomas F, Yang, Yaping, Sutton, V REID, Gibbs, Richa

Journal:

Genome Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 956 KB

english, 2013

36

Whole-genome sequence–based analysis of high-density lipoprotein cholesterol

Morrison, Alanna C, Voorman, Arend, Johnson, Andrew D, Liu, Xiaoming, Yu, Jin, Li, Alexander, Muzny, Donna, Yu, Fuli, Rice, Kenneth, Zhu, Chengsong, Bis, Joshua, Heiss, Gerardo, O'Donnell, Christopher

Journal:

Nature Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2013

37

Author index

Mezina, Anya, Gandhi, Khanjan, Sabo, Aniko, Muzny, Donna, Gibbs, Richard, Hegde, Madhuri, Karpen, Saul J.

Journal:

Journal of the American Academy of Dermatology

Année:

1984

Langue:

english

Fichier:

PDF, 796 KB

english, 1984

38

845 Whole Exome Sequencing Identifies ABCB4 Gene Variants As Modifiers of Biliary Atresia Outcomes

Mezina, Anya, Gandhi, Khanjan, Sabo, Aniko, Muzny, Donna, Gibbs, Richard, Hegde, Madhuri, Karpen, Saul J.

Journal:

Gastroenterology

Année:

2014

Langue:

english

Fichier:

PDF, 60 KB

english, 2014

39

The Chinese hamster HPRT gene: Restriction map, sequence analysis, and multiplex PCR deletion screen

Rossiter, Belinda J.F., Fuscoe, James C., Muzny, Donna M., Fox, Margaret, Caskey, C.Thomas

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 1.64 MB

english, 1991

40

Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

Lindstrand, Anna, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Willer, Jason R., Tsai, I-Chun, Ramanathan, Subhadra, Zuppan, Craig, Sabo, Aniko, Muzny, Donna, Gibbs, Richard, Liu, Pengfei

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.73 MB

english, 2014

41

Urate Oxidase: Primary Structure and Evolutionary Implications

Xiangwei Wu, Cheng Chi Lee, Donna M. Muzny and C. Thomas Caskey

Journal:

Proceedings of the National Academy of Sciences

Année:

1989

Langue:

english

Fichier:

PDF, 1.22 MB

english, 1989

42

Scanning Detection of Mutations in Human Ornithine Transcarbamoylase by Chemical Mismatch Cleavage

Markus Grompe, Donna M. Muzny and C. Thomas Caskey

Journal:

Proceedings of the National Academy of Sciences

Année:

1989

Langue:

english

Fichier:

PDF, 1.10 MB

english, 1989

43

Structural variation and missense mutation inSBDSassociated with Shwachman-Diamond syndrome

Carvalho, Claudia M, Zuccherato, Luciana W, Williams, Christopher L, Neill, Nicholas J, Murdock, David R, Bainbridge, Matthew, Jhangiani, Shalini, Muzny, Donna M, Gibbs, Richard A, Ip, Wan, Guillerman

Journal:

BMC Medical Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2014

44

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Bosch, Daniëlle G.M., Boonstra, F. Nienke, Gonzaga-Jauregui, Claudia, Xu, Mafei, de Ligt, Joep, Jhangiani, Shalini, Wiszniewski, Wojciech, Muzny, Donna M., Yntema, Helger G., Pfundt, Rolph, Vissers, L

Journal:

The American Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 828 KB

english, 2014

45

The common marmoset genome provides insight into primate biology and evolution

Worley, Kim C, Warren, Wesley C, Rogers, Jeffrey, Locke, Devin, Muzny, Donna M, Mardis, Elaine R, Weinstock, George M, Tardif, Suzette D, Aagaard, Kjersti M, Archidiacono, Nicoletta, Rayan, Nirmala Ar

Journal:

Nature Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 802 KB

english, 2014

46

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

Bayram, Yavuz, Pehlivan, Davut, Karaca, Ender, Gambin, Tomasz, Jhangiani, Shalini N., Erdin, Serkan, Gonzaga-Jauregui, Claudia, Wiszniewski, Wojciech, Muzny, Donna, Elcioglu, Nursel H., Yildirim, M. S

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 262 KB

english, 2014

47

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Gonzaga-Jauregui, Claudia, Gamble, Candace N, Yuan, Bo, Penney, Samantha, Jhangiani, Shalini, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Hecht, Jacqueline T

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.36 MB

english, 2015

48

Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication

Shinbrot, Eve, Henninger, Erin E., Weinhold, Nils, Covington, Kyle R., Göksenin, A. Yasemin, Schultz, Nikolaus, Chao, Hsu, Doddapaneni, HarshaVardhan, Muzny, Donna M., Gibbs, Richard A., Sander, Chris

Journal:

Genome Research

Année:

2014

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2014

49

BCOR–CCNB3 fusions are frequent in undifferentiated sarcomas of male children

Peters, Tricia L, Kumar, Vijetha, Polikepahad, Sumanth, Lin, Frank Y, Sarabia, Stephen F, Liang, Yu, Wang, Wei-Lien, Lazar, Alexander J, Doddapaneni, HarshaVardhan, Chao, Hsu, Muzny, Donna M, Wheeler,

Journal:

Modern Pathology

Année:

2015

Langue:

english

Fichier:

PDF, 3.63 MB

english, 2015

50

Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1 : insights into the natural history of a rare disorder

Shalev, Stavit A, Tenenbaum-Rakover, Yardena, Horovitz, Yoseph, Paz, Veronica P, Ye, Honggang, Carmody, David, Highland, Heather M, Boerwinkle, Eric, Hanis, Craig L, Muzny, Donna M, Gibbs, Richard A,

Journal:

Pediatric Diabetes

Année:

2014

Langue:

english

Fichier:

PDF, 472 KB

english, 2014