Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Shareef, Nahas"'
Autor:
Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L. Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, NIAID Centralized Sequencing Program Working Group, Helen C. Su, Gulbu Uzel, Shareef Nahas, Megan Cooper, Magdalena A. Walkiewicz, Bryce A. Seifert, Nadjalisse Reynolds-Lallement, Rachel Gore Moses, Michael Gore Moses, Sarah Bannon, Sophie Byers, Ekaterina Damskey, Sruthi Srinivasan, Adrienne Borges, Nicole Gentile
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or gonadal and somatic tissue(s), respectively, with risk of transmitting the variant to their of
Externí odkaz:
https://doaj.org/article/3117ca222ae44c57838f942448f49e14
Autor:
Konstantin Okonechnikov, Aylin Camgöz, Owen Chapman, Sameena Wani, Donglim Esther Park, Jens-Martin Hübner, Abhijit Chakraborty, Meghana Pagadala, Rosalind Bump, Sahaana Chandran, Katerina Kraft, Rocio Acuna-Hidalgo, Derek Reid, Kristin Sikkink, Monika Mauermann, Edwin F. Juarez, Anne Jenseit, James T. Robinson, Kristian W. Pajtler, Till Milde, Natalie Jäger, Petra Fiesel, Ling Morgan, Sunita Sridhar, Nicole G. Coufal, Michael Levy, Denise Malicki, Charlotte Hobbs, Stephen Kingsmore, Shareef Nahas, Matija Snuderl, John Crawford, Robert J. Wechsler-Reya, Tom Belle Davidson, Jennifer Cotter, George Michaiel, Gudrun Fleischhack, Stefan Mundlos, Anthony Schmitt, Hannah Carter, Kulandaimanuvel Antony Michealraj, Sachin A. Kumar, Michael D. Taylor, Jeremy Rich, Frank Buchholz, Jill P. Mesirov, Stefan M. Pfister, Ferhat Ay, Jesse R. Dixon, Marcel Kool, Lukas Chavez
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Ependymoma is a tumor of the brain or spinal cord. The two most common and aggressive molecular groups of ependymoma are the supratentorial ZFTA-fusion associated and the posterior fossa ependymoma group A. In both groups, tumors occur mainl
Externí odkaz:
https://doaj.org/article/7c75228f7b794031a963791639822393
Autor:
Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau, Yong Hyun Kwon, Lucita Van Der Kraan, Zaira Bezares-Orin, Zhanyang Zhu, Narayanan Veeraraghavan, Shareef Nahas, Matthew Bainbridge, Joe Gleeson, Rebecca J. Baer, Gretchen Bandoli, Christina Chambers, Stephen F. Kingsmore
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-9 (2023)
Abstract Universal newborn screening (NBS) is a highly successful public health intervention. Archived dried bloodspots (DBS) collected for NBS represent a rich resource for population genomic studies. To fully harness this resource in such studies,
Externí odkaz:
https://doaj.org/article/d52683be3c8840f3a3efba386f5f9b2e
Autor:
Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Valyl-tRNA synthetase (VARS) charges valyl-tRNA with the amino acid valine, required for translation. Here, the authors describe a progressive epileptic encephalopathy in individuals from five families carrying biallelic mutations in the VARS gene th
Externí odkaz:
https://doaj.org/article/2b11aa05a4174343ac7596764303089f
Autor:
Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically unsolved. This prevents adequate counseling and clear recommendations in these families. W
Externí odkaz:
https://doaj.org/article/4c768b28545c4e9c80d7adf8d44f46ec
Autor:
Jacob R. Greenmyer, Whitney S. Thompson, Stephanie Mavis, Sara Hassan, Jody Weckwerth, Charlotte Hobbs, Kiely James, Shareef Nahas, Paul Galardy, Christopher Collura
Publikováno v:
Pediatric Blood & Cancer. 70
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e56bfd186d6201677699bebf7c18573
https://doi.org/10.1002/pbc.29871
https://doi.org/10.1002/pbc.29871
Autor:
Xin Xu, Valentina Stanley, Jonathan Sebat, Xiaoxu Yang, Martin W. Breuss, Joseph G. Gleeson, Yan Ding, Beibei Cao, Jennifer McEvoy-Venneri, Renee D. George, An Nguyen, Lucitia Van Der Kraan, Sara A. Wirth, Guoliang Chai, Danny Antaki, Laurel L. Ball, Kiely N. James, Shareef Nahas
Publikováno v:
Cell, vol 184, iss 18
Cell
Cell
Throughout development and aging, human cells accumulate mutations, resulting in genomic mosaicism and genetic diversity at the cellular level. Mosaic mutations present in the gonads can affect both the individualand the offspring and subsequent gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a82cfc98b34f2feea42bf21572c8200f
https://escholarship.org/uc/item/32m300jj
https://escholarship.org/uc/item/32m300jj
Autor:
Lauge Farnaes, Kelly Watkins, David Dimmock, Jeffrey J. Gold, James C. Perry, Matthew N. Bainbridge, Nicole G. Coufal, Benjamin Briggs, Ami Doshi, Matthew R. Williams, Michele Feddock, Michelle M. Clark, Shareef Nahas, Elizabeth Ingulli, Stephen F. Kingsmore, Erica Sanford, Nathaly M. Sweeney, Shimul Chowdhury
Publikováno v:
Pediatric Critical Care Medicine. 20:1007-1020
Objectives:Genetic disorders are a leading contributor to mortality in the neonatal ICU and PICU in the United States. Although individually rare, there are over 6,200 single-gene diseases, which may preclude a genetic diagnosis prior to ICU admissio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::efecc5f3ed9368f13419693b48428e7b
https://doi.org/10.1097/pcc.0000000000002056
https://doi.org/10.1097/pcc.0000000000002056
Autor:
Anna-Kaisa Niemi, Kevin Hall, Meredith S. Wright, Mark Speziale, Louise Fraser, Jerica Lenberg, Shimul Chowdhury, Tim K McPhail, Sergey Batalov, Luca Van Der Kraan, Kevin K Chau, David Dimmock, Vicki S Thomson, Christian Hansen, Yan Ding, Mark Nespeca, Shyamal S Mehtalia, Sheldon Gilmer, Stephen F. Kingsmore, Mallory J Owen, Zhanyang Zhu, Gail Knight, Chris M Kunard, Charlotte A. Hobbs, Jacqueline Weir, John Reynders, Narayanan Veeraraghavan, Bryan R. Lajoie, Sebastien Lefebvre, Shareef Nahas, Thomas Defay
Publikováno v:
N Engl J Med
Speedy Genetic Diagnosis Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur. Here, the genome ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90fdf8243084399b2bccf87ef969c176
https://europepmc.org/articles/PMC9844116/
https://europepmc.org/articles/PMC9844116/
Autor:
Narayanan Veeraraghavan, Michelle M. Clark, John J. Nigro, Charlotte A. Hobbs, Sara A. Caylor, David Dimmock, Nathaly M. Sweeney, Shareef Nahas, Yan Ding, Julie A. Cakici, Sergey Batalov, Stephen F. Kingsmore, Shimul Chowdhury
Publikováno v:
NPJ Genomic Medicine
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-1 (2021)
Congenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions, molecular diagnoses are ascertained in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c465f990a2676621c70240da8ed0ce1
http://europepmc.org/articles/PMC8155217
http://europepmc.org/articles/PMC8155217