Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Kerry K. Brown"'
Autor:
Kristen E Wong, Jacqueline Fung, Andrea Lunardi, Kerry K. Brown, Pier Paolo Pandolfi, Andrew Ivanov, Yanbo Yin, Markus Reschke, Garrett T Wong, Nikolaos A. Patsopoulos, Robin E. Williamson, Ann E. Hickox, Sabina Signoretti, Kathleen S. Arnos, M. Charles Liberman, Ming Chen, Maura Bríd Cotter, Cynthia C. Morton, Nicholas A Sinnott-Armstrong, Tammy Kammin, Richard C Sallari, Benjamin Currall, Jun Shen, Nahid G. Robertson, Kathryn L. Penney, Cinthya J. Zepeda-Mendoza, Bradley J. Quade, Manolis Kellis, Alexander S. Banks
Publikováno v:
Human Molecular Genetics. 27:4194-4203
Great strides in gene discovery have been made using a multitude of methods to associate phenotypes with genetic variants, but there still remains a substantial gap between observed symptoms and identified genetic defects. Herein, we use the converge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a81994d8447fdeb9d8f2e6038f4ffed0
https://doi.org/10.1093/hmg/ddy310
https://doi.org/10.1093/hmg/ddy310
Autor:
Lourdes Quintanilla-Dieck, Christine E. Seidman, Maria A. Artunduaga, Roland D. Eavey, Gabriel Osorno, Steven R. DePalma, Jonathan G. Seidman, Patricia Jarrin, Lucas M. Viana, Cecilia C. Helwig, Barbara McDonough, Kerry K. Brown
Publikováno v:
Human Mutation. 34:1347-1351
Microtia is a rare, congenital malformation of the external ear that in some cases has a genetic etiology. We ascertained a three-generation family with bilateral microtia and hearing loss segregating as an autosomal dominant trait. Exome sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1bce521918356aecb2663fbb5a6b605
https://doi.org/10.1002/humu.22367
https://doi.org/10.1002/humu.22367
Publikováno v:
Genetics in Medicine. 13:680-685
Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01922f45e9d36f0dcf9a38657c759eaf
https://doi.org/10.1097/gim.0b013e3182217a3a
https://doi.org/10.1097/gim.0b013e3182217a3a
Autor:
Kerry K. Brown, Cynthia C. Morton, Kate Crow, Heather L. Ferguson, Bernd Fritzsch, Jacob A. Reiss, Chantal Kelly
Publikováno v:
Human Genetics. 127:19-31
Precisely regulated temporal and spatial patterns of gene expression are essential for proper human development. Cis-acting regulatory elements, some located at large distances from their corresponding genes, play a critical role in transcriptional c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22ccbcb88b4214c0c3a0fbc83b9fba13
https://doi.org/10.1007/s00439-009-0736-4
https://doi.org/10.1007/s00439-009-0736-4
Autor:
Janine Lewis, Bradley J. Quade, Shashikant Kulkarni, Irfan Saadi, Richard L. Maas, Yiping Shen, Steven D.P. Moore, Azra H. Ligon, Kerry K. Brown, Gail A. P. Bruns, Hyung Goo Kim, Chantal Kelly, Fabiola Quintero-Rivera, Heather L. Ferguson, Shotaro Kishikawa, Bruce R. Korf, Weining Lu, Eric Lally, Roxanna E. Peters, James F. Gusella, Amy Foster Bosco, E. Lemyre, Cynthia C. Morton, Chantal Farra, Steven R. Herrick, Anne W. Higgins, Yanli Fan, Diana J. Donovan, Robert N. Eisenman, Marcy E. MacDonald, David J. Harris, Fowzan S. Alkuraya, Robin E. Williamson, Natalia T. Leach, Jay Shendure
Publikováno v:
Europe PubMed Central
Apparently balanced chromosomal rearrangements in individuals with major congenital anomalies represent natural experiments of gene disruption and dysregulation. These individuals can be studied to identify novel genes critical in human development a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab5ffb08fecfbf3df582268969870d79
Autor:
Cynthia C. Morton, Karen Harrison, Susan Crocker, Jennifer MacKenzie, Kyle McKenzie, Kerry K. Brown, Gregory J. Anger
Publikováno v:
American journal of audiology. 23(1)
Purpose The authors report on a 7-year-old male, designated FR, who has severe sensorineural hearing loss. Features include a round face, hypertelorism, epicanthal folds, and flat nasal root. Although there were early developmental concerns regarding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ffc981f6cef4578a31c5d2074fe40d
https://pubmed.ncbi.nlm.nih.gov/24096866
https://pubmed.ncbi.nlm.nih.gov/24096866
Autor:
Sherri J. Bale, Pinar Bayrak-Toydemir, Heidi L. Rehm, Birgit Funke, Kerry K. Brown, Elaine Lyon, Joshua L. Deignan, Madhuri Hegde, Jonathan S. Berg, Michael J. Friez
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 15(9)
Next-generation sequencing technologies have been and continue to be deployed in clinical laboratories, enabling rapid transformations in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c2c0271a32889255d1323c35ad95359
https://pubmed.ncbi.nlm.nih.gov/23887774
https://pubmed.ncbi.nlm.nih.gov/23887774
Autor:
Hiroko Wakimoto, Bruce D. Gelb, Stephen Sanders, Jennie Kline, Peter White, Khalid Adnan Mohamed A. Fakhro, Jonathan G. Seidman, Lijiang Ma, Michael Parfenov, Irina Tikhonova, Michael J. Italia, Robert D. Bjornson, Mathew W. State, Howard S. Seiden, Amy E. Roberts, George A. Porter, Samir Zaidi, Jeremy Leipzig, Wei Wang, Elizabeth Goldmuntz, Alexander Lopez, Jianming Jiang, Hongyu Zhao, Murim Choi, Christine E. Seidman, Steve Depalma, Sai Lakshmi Subramanian, Jonathan R. Kaltman, Jane W. Newburger, Richard B. Kim, Richard P. Lifton, Dorothy Warburton, Ravi Sachidanandam, Wendy K. Chung, Martina Brueckner, Shrikant Mane, John E. Deanfield, Kerry K. Brown, Juan Pablo Kaski, Nicholas Carriero, Angela Romano-Adesman, Teresa Lee, John D. Overton, Laura E. Mitchell, Hakon Hakonarson, Ismee A. Williams, Joseph T. Glessner, Yee Him Cheung, Itsik Pe'er, Roger E. Breitbart
Publikováno v:
Nature
Exome sequencing of patients with congenital heart disease (CHD) and their unaffected parents reveals an excess of strong-effect, protein-altering de novo mutations in genes expressed in the developing heart, many of which regulate chromatin modifica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4cb0ab5d93900a03790c2be330f8d56
https://pubmed.ncbi.nlm.nih.gov/24526674
https://pubmed.ncbi.nlm.nih.gov/24526674
Autor:
Kerry K. Brown, Heidi L. Rehm
Publikováno v:
Current Protocols in Human Genetics
This unit discusses an approach to identifying a genetic etiology in an individual with nonsyndromic hearing loss. The unit begins with a discussion of the decision-making process that can be used to determine whether specific genes and/or a large ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82334a61b72d50742cd141e3358cadc2
https://doi.org/10.1002/0471142905.hg0916s72
https://doi.org/10.1002/0471142905.hg0916s72
Autor:
Kerry K. Brown, Michael Matos, Richard L. Robertson, Fowzan S. Alkuraya, Virginia Kimonis, Cynthia C. Morton
Publikováno v:
American journal of medical genetics. Part A. (5)
In an effort to discover genes important for human development, we have ascertained patients with congenital anomalies and cytogenetically balanced chromosomal rearrangements. Herein, we report a four year-old girl with profound deafness, a history o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::356e99673fe510c6e4520a532ad7aa95
https://pubmed.ncbi.nlm.nih.gov/19353646
https://pubmed.ncbi.nlm.nih.gov/19353646