Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Atteeq U, Rehman"'
Autor:
Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-13 (2022)
Abstract Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these
Externí odkaz:
https://doaj.org/article/6905d648dde247ee8ce993083466d75f
Autor:
Jacqueline A. Odgis, Katie M. Gallagher, Atteeq U. Rehman, Priya N. Marathe, Katherine E. Bonini, Monisha Sebastin, Miranda Di Biase, Kaitlyn Brown, Nicole R. Kelly, Michelle A. Ramos, Amanda Thomas‐Wilson, Saurav Guha, Volkan Okur, Mythily Ganapathi, Lama Elkhoury, Lisa Edelmann, Randi E. Zinberg, Noura S. Abul‐Husn, George A. Diaz, John M. Greally, Sabrina A. Suckiel, Vaidehi Jobanputra, Carol R. Horowitz, Eimear E. Kenny, Melissa P. Wasserstein, Bruce D. Gelb
Publikováno v:
American Journal of Medical Genetics Part A. 191:699-710
The increased use of next-generation sequencing has expanded our understanding of the involvement and prevalence of mosaicism in genetic disorders. We describe a total of eleven cases: nine in which mosaic variants detected by genome sequencing (GS)
Autor:
Maddalena Marasa, Dina F. Ahram, Atteeq U. Rehman, Adele Mitrotti, Avinash Abhyankar, Namrata G. Jain, Patricia L. Weng, Stacy E. Piva, Hilda E. Fernandez, Natalie S. Uy, Debanjana Chatterjee, Byum H. Kil, Jordan G. Nestor, Vanessa Felice, Dino Robinson, Dilys Whyte, Ali G. Gharavi, Gerald B. Appel, Jai Radhakrishnan, Dominick Santoriello, Andrew Bomback, Fangming Lin, Vivette D. D’Agati, Vaidehi Jobanputra, Simone Sanna-Cherchi
Publikováno v:
Kidney International Reports.
Autor:
Thomas Hays, Rebecca Hernan, Michele Disco, Emily Griffin, Nimrod Goldshtrom, Diana Vargas, Ganga Krishnamurthy, Atteeq U. Rehman, Amanda T. Wilson, Saurav Guha, Shruti Phadke, Volkan Okur, Dino Robinson, Vanessa Felice, Avinash Abhyankar, Vaidehi Jobanputra, Wendy K. Chung
BackgroundRapid genome sequencing (rGS) has been shown to improve the care of critically ill infants. Congenital heart disease (CHD) is a leading cause of infant mortality, and is often caused by genetic disorders, yet the utility of rGS has not been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::77320068b01e40d3023ef138ebbf83c1
https://doi.org/10.1101/2022.12.16.22283479
https://doi.org/10.1101/2022.12.16.22283479
Autor:
Matthew R Avenarius, Jae-Yun Jung, Charles Askew, Sherri M Jones, Kristina L Hunker, Hela Azaiez, Atteeq U Rehman, Margit Schraders, Hossein Najmabadi, Hannie Kremer, Richard J H Smith, Gwenaëlle S G Géléoc, David F Dolan, Yehoash Raphael, David C Kohrman
Publikováno v:
PLoS ONE, Vol 13, Iss 8, p e0201713 (2018)
Hearing and balance depend upon the precise morphogenesis and mechanosensory function of stereocilia, the specialized structures on the apical surface of sensory hair cells in the inner ear. Previous studies of Grxcr1 mutant mice indicated a critical
Externí odkaz:
https://doaj.org/article/1b9954a009804b34a68d58ca662b8503
Autor:
Christina A, Austin-Tse, Vaidehi, Jobanputra, Denise L, Perry, David, Bick, Ryan J, Taft, Eric, Venner, Richard A, Gibbs, Ted, Young, Sarah, Barnett, John W, Belmont, Nicole, Boczek, Shimul, Chowdhury, Katarzyna A, Ellsworth, Saurav, Guha, Shashikant, Kulkarni, Cherisse, Marcou, Linyan, Meng, David R, Murdock, Atteeq U, Rehman, Elizabeth, Spiteri, Amanda, Thomas-Wilson, Hutton M, Kearney, Heidi L, Rehm
Publikováno v:
NPJ genomic medicine. 7(1)
Whole genome sequencing (WGS) shows promise as a first-tier diagnostic test for patients with rare genetic disorders. However, standards addressing the definition and deployment practice of a best-in-class test are lacking. To address these gaps, the
Autor:
Ayesha Imtiaz, Atteeq U. Rehman, Asma A. Khan, Robert J. Morell, Deborah A. Nickerson, Khurram Liaqat, Saima Riazuddin, Isabelle Schrauwen, Muhammad Ansar, Anushree Acharya, Shahid Niaz Khan, Takla C, Rafeeq M, Saba Zafar, Wasim Ahmad, Izoduwa Abbe, Kwanghyuk Lee, Taimur Chaudhry, Imen Chakchouk, Thomas B. Friedman, Suzanne M. Leal, Rabia Faridi, Santos-Cortez Rlp, Mohsin Shahzad, Michael J. Bamshad, Elodie Richard, Zubair M. Ahmed
Publikováno v:
Human Mutation. 40:53-72
Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive hearing loss (HL) worldwide. In this study, we utilized genome-wide genotyping
Autor:
Jeroen Bakkers, Atteeq U. Rehman, Gijs van Haaften, Seema R. Lalani, Federico Tessadori, Jacques C. Giltay, Fan Xia, Karen Duran, Haley Streff
Publikováno v:
European Journal of Human Genetics, 28(5), 674. Nature Publishing Group
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics
We report here a de novo missense variant in HIST1H4J resulting in a complex syndrome combining growth delay, microcephaly and intellectual disability. Trio whole exome sequencing (WES) revealed that the proband was heterozygous for a de novo c.274 A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d407c5e1b3d2d9126594284f73a3eae9
https://dspace.library.uu.nl/handle/1874/396141
https://dspace.library.uu.nl/handle/1874/396141
Autor:
Melanie Barzik, Elizabeth A. Wilson, Spencer M. Goodman, Jonathan E. Bird, Atteeq U. Rehman, Diana Syam, Meghan C. Drummond, Eva L. Morozko, Inna A. Belyantseva, Stacey M. Cole, Tracy S. Fitzgerald, Jennifer M. Skidmore, Alexandra K. Boukhvalova, Erich T. Boger, Donna M. Martin, Thomas B. Friedman, Daniel C. Sutton
Publikováno v:
Molecular Biology of the Cell
Nanoscale pulldown (NanoSPD) miniaturizes the concept of affinity pulldown to detect protein–protein interactions in live cells. NanoSPD hijacks the myosin-based intracellular trafficking machinery to assess interactions under physiological buffer
Autor:
Atteeq U. Rehman, Rabia Faridi, Dalia Tohlob, Asma A. Khan, William G. Newman, Glenda M. Beaman, Sana Zahra, Muhammad Zaman Khan Assir, Shaheen N. Khan, Leigh A M Demain, Thomas B. Friedman, Robert J. Morell, Sheikh Riazuddin, Penelope E. Friedman
Publikováno v:
Clinical Genetics. 91:328-332
Perrault syndrome (PS) is a genetically heterogeneous disorder characterized by primary ovarian insufficiency (POI) in females and sensorineural hearing loss in males and females. In many PS subjects, causative variants have not been found in the fiv