Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Jennifer Kussmann"'
Autor:
Ana S.A. Cohen, Emily G. Farrow, Ahmed T. Abdelmoity, Joseph T. Alaimo, Shivarajan M. Amudhavalli, John T. Anderson, Lalit Bansal, Lauren Bartik, Primo Baybayan, Bradley Belden, Courtney D. Berrios, Rebecca L. Biswell, Pawel Buczkowicz, Orion Buske, Shreyasee Chakraborty, Warren A. Cheung, Keith A. Coffman, Ashley M. Cooper, Laura A. Cross, Tom Curran, Thuy Tien T. Dang, Mary M. Elfrink, Kendra L. Engleman, Erin D. Fecske, Cynthia Fieser, Keely Fitzgerald, Emily A. Fleming, Randi N. Gadea, Jennifer L. Gannon, Rose N. Gelineau-Morel, Margaret Gibson, Jeffrey Goldstein, Elin Grundberg, Kelsee Halpin, Brian S. Harvey, Bryce A. Heese, Wendy Hein, Suzanne M. Herd, Susan S. Hughes, Mohammed Ilyas, Jill Jacobson, Janda L. Jenkins, Shao Jiang, Jeffrey J. Johnston, Kathryn Keeler, Jonas Korlach, Jennifer Kussmann, Christine Lambert, Caitlin Lawson, Jean-Baptiste Le Pichon, James Steven Leeder, Vicki C. Little, Daniel A. Louiselle, Michael Lypka, Brittany D. McDonald, Neil Miller, Ann Modrcin, Annapoorna Nair, Shelby H. Neal, Christopher M. Oermann, Donna M. Pacicca, Kailash Pawar, Nyshele L. Posey, Nigel Price, Laura M.B. Puckett, Julio F. Quezada, Nikita Raje, William J. Rowell, Eric T. Rush, Venkatesh Sampath, Carol J. Saunders, Caitlin Schwager, Richard M. Schwend, Elizabeth Shaffer, Craig Smail, Sarah Soden, Meghan E. Strenk, Bonnie R. Sullivan, Brooke R. Sweeney, Jade B. Tam-Williams, Adam M. Walter, Holly Welsh, Aaron M. Wenger, Laurel K. Willig, Yun Yan, Scott T. Younger, Dihong Zhou, Tricia N. Zion, Isabelle Thiffault, Tomi Pastinen
Publikováno v:
Genetics in Medicine. 24:1336-1348
This study aimed to provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids program.Extensive analyses of 960 families with suspected genetic disorders included short-read exome
Autor:
Tricia N. Zion, Courtney D. Berrios, Ana S.A. Cohen, Lauren Bartik, Laura A. Cross, Kendra L. Engleman, Emily A. Fleming, Randi N. Gadea, Susan S. Hughes, Janda L. Jenkins, Jennifer Kussmann, Caitlin Lawson, Caitlin Schwager, Meghan E. Strenk, Holly Welsh, Eric T. Rush, Shivarajan M. Amudhavalli, Bonnie R. Sullivan, Dihong Zhou, Jennifer L. Gannon, Bryce A. Heese, Riley Moore, Emelia Boillat, Rebecca L. Biswell, Daniel A. Louiselle, Laura M.B. Puckett, Shanna Beyer, Shelby H. Neal, Victoria Sierant, Macy McBeth, Bradley Belden, Adam M. Walter, Margaret Gibson, Warren A. Cheung, Jeffrey J. Johnston, Isabelle Thiffault, Emily G. Farrow, Elin Grundberg, Tomi Pastinen
Publikováno v:
Genetics in Medicine. 25:100020
Autor:
Jill Jacobson, Keith A Coffman, Susan S Hughes, Caitlin Lawson, Erin D Fecske, Ahmed T Abdelmoity, Thuy Tien T Dang, Annapoorna Nair, Janda L Jenkins, Kendra L Engleman, Daniel A Louiselle, Orion Buske, Nigel Price, Dihong Zhou, Michael Lypka, Courtney D Berrios, Laura Mb Puckett, Kelsee Halpin, Ana Sa Cohen, Nikita Raje, Aaron M Wenger, Emily G Farrow, Keely Fitzgerald, Mohammed Ilyas, Kailash Pawar, Joseph T Alaimo, Jennifer L Gannon, Laurel K Willig, Jean-Baptiste Le Pichon, Shivarajan M Amudhavalli, Christopher M Oermann, Rebecca L Biswell, Shelby H Neal, Lalit Bansal, Elizabeth Shaffer, Brittany D McDonald, Bonnie R Sullivan, Isabelle Thiffault, Christine Lambert, Ashley M Cooper, Suzanne M Herd, Holly Welsh, Julio F Quezada, Carol J Saunders, Caitlin Schwager, Brian S Harvey, Adam M Walter, Donna M Pacicca, Jennifer Kussmann, Rose N Gelineau-Morel, Margaret Gibson, Elin Grundberg, Shao Jiang, Scott T Younger, Steve Leeder, Richard M Schwend, John T Anderson, Venkatesh Sampath, Jonas Korlach, Bryce A Heese, Meghan E Strenk, Neil Miller, Vicki C Little, Ann Modrcin, Brooke R Sweeney, Randi N Gadea, Nyshele L Posey, Emily A Fleming, Wendy Hein, Cynthia Fieser, Eric T Rush, Laura A Cross, Craig Smail, William J Rowell, Kathryn Keeler, Jeffrey Goldstein, Tricia N Zion, Warren A. Cheung, Sarah Soden, Lauren Bartik, Bradley Belden, Thomas Curran, Pawel Buczkowicz, Shreyasee Chakraborty, Yun Yan, Tomi Pastinen, Primo Baybayan, Mary M Elfrink, Jeffrey J Johnston, Jade B Tam-Williams
PURPOSETo provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids (GA4K) program.METHODSExtensive analyses of 960 families with suspected genetic disorders including short-read e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b55ee732f1ec32f314eebddcd46b6b25
https://doi.org/10.1101/2021.10.07.21264628
https://doi.org/10.1101/2021.10.07.21264628
Autor:
David Francis, Yves Sznajer, Lieve Vanwalleghem, Jennifer Kussmann, David A. Bateman, Gael E. Phillips, Scott A. Anderson, Elizabeth K. Fiorino, Przemyslaw Szafranski, Kamilla Schlade-Bartusiak, Neil J. Sebire, Pablo Lapunzina, Maya Chopra, Urvashi Surti, Isabelle Maystadt, Oliver Quarrell, Partha Sen, Jill Slamon, Avinash V. Dharmadhikari, Philippe Moerman, Liesbeth Spruijt, Dick Tibboel, Susan Arbuckle, Glenda Hendson, Jennifer Schuette, Nicole de Leeuw, Melissa Lees, Namasivayam Ambalavanan, Annelies de Klein, Svetlana A. Yatsenko, Joel Reiter, Joseph T. Shieh, Sandra Janssens, Gregory Peters, Jessica Sebastian, David R. Kelly, Eitan Kerem, Janet Lioy, Martina Owens, Gary Tsz Kin Mok, Carlos A. Bacino, Amy S. Lay, Shalini N. Jhangiani, Suneeta Madan-Khetarpal, Björn Menten, Elizabeth Roeder, Kadir C. Akdemir, Denise A. Hayes, Laurie A. Steiner, Taryn C. Rosenthal, Richard Sayers, Fernando Santos-Simarro, Ashley Wilson, Joyce E. Fox, Yoyo W. Y. Chu, Richard Fisher, Rebecca O. Littlejohn, Daynna J. Wolff, Wai Lap Wong, Timothy Thiruchelvam, Kristin Scheible, Zoe Mead, Eileen McKay, M. Anwar Iqbal, Erwin Brosens, Melinda H. Markham, Julián Nevado, Anne Loccufier, Rosanna G. Abellar, Tomasz Gambin, Charles Shaw-Smith, Alison Yeung, Pawel Stankiewicz, Nihal Godiwala, Elfride De Baere, Ilse Feenstra, Diane J. Payton, Girvan Malcolm, María Palomares, Morris Edelman, Claire Langston, Thomas S. DeNapoli, Margaret L. McKinnon, Carol L. Wagner, Brian H.Y. Chung, James R. Lupski, Dawn English, Alison Male, Edwina J. Popek, Frances Elmslie, Jasneek Chawla, Sara Jane Hamilton, Jason Pinner
Publikováno v:
Human Genetics, 135, 5, pp. 569-86
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Contains fulltext : 168023.pdf (Publisher’s version ) (Closed access) Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy
Autor:
Beatrice N. French, Blake C. Ballif, Jill A. Rosenfeld, Santhosh Girirajan, Eric Haan, Jennifer Kussmann, Shane McCarthy, Valerie Banks, Darren Farber, Carl Baker, John B. Moeschler, Alisha Biser, Kathryn Platky, Bhuwan P. Garg, Jonathan Sebat, Rosemarie Smith, Donna M. McDonald-McGinn, Brian L. Browning, Joe J. Hoo, Jennifer Dickerson, Jillian R Ozmore, Yves Lacassie, Urvashi Surti, Luis F. Escobar, Dima El-Khechen, Andy Itsara, Marie T. McDonald, Corrado Romano, Gregory M. Cooper, David D. Weaver, Bonnie A. Salbert, Wendy E. Smith, Tamim H. Shaikh, Lisa G. Shaffer, Paul R. Mark, Sara Ellingwood, Francesca Antonacci, Jeffrey M. Kidd, Alexander Asamoah, Evan E. Eichler, Cindy Hudson, Marco Fichera, Lynn E. DeLisi, Gordon C. Gowans, Jessica J. Wetherbee, Jozef Gecz, Mary Claire King, Elaine H. Zackai, Jerome L. Gorski, Priscillia Siswara, John P. Johnson, Kathryn Friend, Matthew A. Deardorff, Laura Vives, Deborah L. Levy, Sharon R. Browning, Diane E. Dickel, Heather C Mefford, Tom Walsh
Publikováno v:
Nature genetics, vol 42, iss 3
Girirajan, S; Rosenfeld, JA; Cooper, GM; Antonacci, F; Siswara, P; Itsara, A; et al.(2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3), 203-209. doi: 10.1038/ng.534. Lawrence Berkeley National Laboratory: Retrieved from: http://www.escholarship.org/uc/item/89w1x55x
Nature genetics
Girirajan, S; Rosenfeld, JA; Cooper, GM; Antonacci, F; Siswara, P; Itsara, A; et al.(2010). A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nature Genetics, 42(3), 203-209. doi: 10.1038/ng.534. Lawrence Berkeley National Laboratory: Retrieved from: http://www.escholarship.org/uc/item/89w1x55x
Nature genetics
We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.0009, OR = 7.2) and replicated in a
Autor:
Jill A. Rosenfeld, Marwan Shinawi, Scott Saunders, Livija Medne, Shashikant Kulkarni, Avinash V. Dharmadhikari, Carsten G. Bönnemann, Suneeta Madan-Khetarpal, Pawel Stankiewicz, Samarth Bhatt, Stephanie E. Vallee, Fernando Scaglia, Marshall L. Summar, Zhilian Xia, Carlos A. Bacino, Ann Martin, Brendan Lee, Alexander Asamoah, Jacques S. Beckmann, Wendy E. Smith, Sau Wai Cheung, Sumit Parikh, Rizwan Hamid, Tracy L. McGregor, Amber N. Pursley, Jean P. Pfotenhauer, Kathryn Platky, Lisa G. Shaffer, Chad A. Shaw, Ankita Patel, Polly Irwin, Paul S. Simons, Dorothy K. Grange, Sung-Hae L. Kang, Gary Bellus, Victoria P. Dalzell, John B. Moeschler, Jennifer Kussmann, Srirangan Sampath, Danielle Martinet, Alex R. Paciorkowski, Michael J. Noetzel, Carolyn Lovell, Susan Sparks, Blake C. Ballif, Kathryn Golden-Grant, Florence Fellmann, David B. Flannery, Jacqueline M. Hoover, Tamim H. Shaikh, M. Lance Cooper, Valerie Banks, Jerome L. Gorski
Publikováno v:
Human Mutation, vol. 33, no. 1, pp. 165-179
We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the deletions and eight duplic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7c5ff84f9bf9a002bde387a5c6e38cf
https://serval.unil.ch/resource/serval:BIB_821E7FE324C6.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_821E7FE324C6.P001/REF.pdf
Autor:
Jill A. Rosenfeld, David J. Amor, Wendy E. Smith, Rosemarie Smith, Allen N. Lamb, Joseph Cook, Anne Slavotinek, Valerie Banks, Susan Zelewski, Victoria A. Cox, Joao Silva, Rachel Sullivan, Helen V. Firth, Marie T. McDonald, Jennifer Kussmann, Jonathan Zonana, Albert K. Oh, Mark C. Hannibal, Lindsay Paull, Kory Keller, Jerome L. Gorski, Natasha Shur, Eric M. Morrow, Lionel Willatt, Susie Ball, Evan E. Eichler, Patricia G. Wheeler, Raoul C.M. Hennekam, Kenneth N. Rosenbaum, Heather C Mefford
Publikováno v:
Journal of medical genetics, 49(2), 110-118. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics
Background Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 have had detailed b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158cdf4980b4bc6fb672817cf7f0b5c9
https://pure.amc.nl/en/publications/further-clinical-and-molecular-delineation-of-the-15q24-microdeletion-syndrome(67ea9dac-222d-4ffb-8ac4-a07e4893c2dd).html
https://pure.amc.nl/en/publications/further-clinical-and-molecular-delineation-of-the-15q24-microdeletion-syndrome(67ea9dac-222d-4ffb-8ac4-a07e4893c2dd).html
Autor:
Carl Baker, Lisa G. Shaffer, Gregory M. Cooper, Patricia I. Bader, Marybeth Hummel, Krys Johnson, Heather J. Stalker, Santhosh Girirajan, Kathleen A. Leppig, Tiffany H. Vu, Hoda Abdel-Hamid, Blake C. Ballif, Jill A. Rosenfeld, Nora Alexander, Vandana Shashi, Charles A. Williams, Catherine Rehder, Jerome L. Gorski, Dmitriy Niyazov, Evan E. Eichler, Bradley P. Coe, Heidi Thiese, Rizwan Hamid, Elizabeth McCracken, Jennifer Kussmann, Vickie L. Hannig
Publikováno v:
Nature genetics
To understand the genetic heterogeneity underlying developmental delay, we compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls. We esti
Autor:
Stefania Gimelli, Chin-To Fong, Joris Vermeesch, Jennifer Kussmann, Jeroen Breckpot, Jessica M. Salamone, Bernard Thienpont, Farah R. Zahir, Armand Bottani, Emmanuel Scalais, Hilde Van Esch, Jean Pierre Fryns, Michael M. Morris, Sau Wai Cheung, Jan M. Friedman, Dorothy K. Grange, Geert Mortier, Björn Menten, Nicole Philip, Koen Devriendt, Siu Li Yong, Jerome L. Gorski, Laurent Villard, Frédérique Béna
Publikováno v:
JOURNAL OF MEDICAL GENETICS
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions. A detailed phenotypic delineation of interstitial 16p13.3 duplicatio
Autor:
Elizabeth McCracken, Patricia I. Bader, Krys Johnson, Nora Alexander, Charles A. Williams, Kathleen A. Leppig, Hoda Abdel-Hamid, Marybeth Hummel, Blake C. Ballif, Heidi Thiese, Heather J. Stalker, Evan E. Eichler, Rizwan Hamid, Catherine Rehder, Jill A. Rosenfeld, Lisa G. Shaffer, Bradley P. Coe, Vandana Shashi, Carl Baker, Gregory M. Cooper, Vickie L. Hannig, Dmitriy Niyazov, Santhosh Girirajan, Tiffany H. Vu, Jennifer Kussmann, Jerome L. Gorski
Publikováno v:
Nature Genetics. 46:1040-1040
Nat. Genet. 43, 838–846 (2011); published online 14 August 2011; corrected after print 27 August 2014 In the version of this article initially published, in Table 1 and its associated text, there was a calculation error in which the relative sizes