Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Jesse M. Hunter"'
Autor:
Umamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, Caitlyn M. Colwell, Jesse M. Hunter, Marco L. Leung, Elaine R. Mardis, Peter White, Murugu Manickam, Richard K. Wilson, Daniel C. Koboldt
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Background: Leigh syndrome is a rare, genetic, and severe mitochondrial disorder characterized by neuromuscular issues (ataxia, seizure, hypotonia, developmental delay, dystonia) and ocular abnormalities (nystagmus, atrophy, strabismus, ptosis). It i
Externí odkaz:
https://doaj.org/article/65f0bb324b7e4367bb43e76e7eb8f160
Autor:
Chris D. Balak, Jesse M. Hunter, Mary E. Ahearn, David Wiley, Gennaro D'urso, Lisa Baumbach-Reardon
Publikováno v:
F1000Research, Vol 6 (2017)
Background: X-linked spinal muscular atrophy (XL-SMA) results from mutations in the Ubiquitin-Like Modifier Activating Enzyme 1 (UBA1). Previously, four novel closely clustered mutations have been shown to cause this fatal infantile disorder affectin
Externí odkaz:
https://doaj.org/article/78eeee3cbf8245818e7a911b5e49f9de
Autor:
Mariam T. Mathew, Austin Antoniou, Naveen Ramesh, Min Hu, Jeffrey Gaither, Danielle Mouhlas, Sayaka Hashimoto, Maggie Humphrey, Theodora Matthews, Jesse M. Hunter, Shalini Reshmi, Matthew Schultz, Kristy Lee, Ruthann Pfau, Catherine Cottrell, Kim L. McBride, Nicholas E. Navin, Bimal P. Chaudhari, Marco L. Leung
Publikováno v:
The Journal of Molecular Diagnostics. 24:1031-1040
Chromosomal microarray (CMA) is a testing modality frequently used in pediatric patients; however, published data on its utilization are limited to the genetic setting. We performed a database search for all CMA testing performed from 2010 to 2020, a
Autor:
Jesse M, Hunter, Lauren J, Massingham, Kandamurugu, Manickam, Dennis, Bartholomew, Rachel K, Williamson, Jennifer L, Schwab, Mohammad, Marhabaie, Amy, Siemon, Emily, de Los Reyes, Shalini C, Reshmi, Catherine E, Cottrell, Richard K, Wilson, Daniel C, Koboldt
Publikováno v:
Cold Spring Harbor molecular case studies. 8(2)
Alterations in the
Autor:
Zhiqiang Hu, Jesse M. Hunter, Olivier Lichtarge, Sean D. Mooney, Aashish N. Adhikari, Steven E. Brenner, Rita Casadio, Yizhou Yin, Lipika R. Pal, Uma Sunderam, Panagiotis Katsonis, Predrag Radivojac, Thomas Joseph, Giulia Babbi, Naveen Sivadasan, Constantina Bakolitsa, Vangala G. Saipradeep, Laura Kasak, John Moult, Julian Gough, M. Stephen Meyn, Pier Luigi Martelli, Jennifer Poitras, Rupa A Udani, Jan Zaucha, Rafael F. Guerrero, Yuxiang Jiang, Aditya Rao, Sujatha Kotte, Kunal Kundu
Publikováno v:
Hum Mutat
Whole-genome sequencing (WGS) holds great potential as a diagnostic test. However, the majority of patients currently undergoing WGS lack a molecular diagnosis, largely due to the vast number of undiscovered disease genes and our inability to assess
Autor:
Sha Tang, Jesse M. Hunter, Samin A. Sajan, Kelly D. Farwell Hagman, Kelly Radtke, Cathy A. Stevens, Erica D. Smith, Deepali N. Shinde, Wendy Alcaraz, Candace Muss, Kirsten Blanco, Jennifer Huang, Bess Wayburn, Mari Rossi
Publikováno v:
Genetics in Medicine
Purpose We evaluated clinical and genetic features enriched in patients with multiple Mendelian conditions to determine which patients are more likely to have multiple potentially relevant genetic findings (MPRF). Methods Results of the first 7698 pa
Autor:
Rebecca O. Clark, Sean J. Hipp, Jesse M Hunter, Cameron Mroske, Janet M Berg, Susan L Whiteway, Daniel S Catts
Publikováno v:
Journal of pediatric hematology/oncology. 43(4)
The RAS/mitogen-activated protein kinase pathway plays a significant role in cell cycle regulation. Germline mutation of this pathway leads to overlapping genetic disorders, RASopathies, and is also an important component of tumorigenesis. Here we de
Autor:
Jesse M Hunter, Lauren J Massingham, Kandamurugu Manickam, Dennis Bartholomew, Rachel K Williamson, Jennifer L Schwab, Mohammad Marhabaie, Amy Siemon, Emily de los Reyes, Shalini C Reshmi, Catherine E Cottrell, Richard K Wilson, Daniel C Koboldt
Publikováno v:
Molecular Case Studies. :mcs.a006180
Alterations in the TAOK1 gene have recently emerged as the cause of developmental delay with or without intellectual impairment or behavioral abnormalities (MIM #619575). The thirty-two cases currently described in the literature have predominantly d
Autor:
Jesse M Hunter, Jason Kwan, Michael Malek-Ahmadi, Chera L Maarouf, Tyler A Kokjohn, Christine Belden, Marwan N Sabbagh, Thomas G Beach, Alex E Roher
Publikováno v:
PLoS ONE, Vol 7, Iss 5, p e36893 (2012)
Key pathological hallmarks of Alzheimer's disease (AD), including amyloid plaques, cerebral amyloid angiopathy (CAA) and neurofibrillary tangles do not completely account for cognitive impairment, therefore other factors such as cardiovascular and ce
Externí odkaz:
https://doaj.org/article/08c3112e9ddb407289691128ca81b8c9
Autor:
Jesse M. Hunter, Mary S. Willis, Bryce A. Mendelsohn, Sha Tang, Carlos A. Bacino, Eric Vilain, Hane Lee, Jill A. Rosenfeld, Delphine Héron, Tyler Mark Pierson, Zöe Powis, Shenela Lakhani, Naghmeh Dorrani, Lorenzo D. Botto, Maria J. Guillen Sacoto, Jaclyn Haven, Julie S. Cohen, Trine Bjørg Hammer, Bobby G. Ng, Charles Marques Lourenço, Rita Barone, Jennifer Burton, Ingrid E. Scheffer, Wendy G. Mitchell, Pasquale Striano, Stephanie Grunewald, Stanley F. Nelson, Nicola Longo, Jane Juusola, Fernando Scaglia, Christopher C.Y. Mak, Hudson H. Freeze, Shoji Yano, Leon G. Epstein, Arthur Partikian, Domenico Garozzo, Mohammed Almannai, Joy Lee, Hui Yang, Dianalee McKnight, Abdallah F. Elias, William A. Gahl, Nilika S. Singhal, Christina G.S. Palmer, Devorah Segal, Andrew C. Edmondson, George E. Hoganson, Cyril Mignot, Brian H.Y. Chung, Colleen M. Carlston, Mahim Jain, M. Elizabeth Ross, Paulina Sosicka, David Coman, Sharon F. Suchy, Shane C. Quinonez, Ghayda M. Mirzaa, Katrina M. Dipple, Satish Agadi, Joseph D. Symonds, Lynne A. Wolfe, Marc C. Patterson, Brigid M. Regan, Luisa Sturiale, Mariusz Olczak, Hiltrud Muhle, Katherine Lewis, William B. Dobyns, Matthew R. Herzog
Publikováno v:
Hum Mutat
Human mutation 40 (2019): 908–925. doi:10.1002/humu.23731
info:cnr-pdr/source/autori:Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco, Charles Marques; Mak, Christopher C. Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G. S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H./titolo:SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals/doi:10.1002%2Fhumu.23731/rivista:Human mutation/anno:2019/pagina_da:908/pagina_a:925/intervallo_pagine:908–925/volume:40
Human mutation, vol 40, iss 7
Human mutation 40 (2019): 908–925. doi:10.1002/humu.23731
info:cnr-pdr/source/autori:Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco, Charles Marques; Mak, Christopher C. Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G. S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H./titolo:SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals/doi:10.1002%2Fhumu.23731/rivista:Human mutation/anno:2019/pagina_da:908/pagina_a:925/intervallo_pagine:908–925/volume:40
Human mutation, vol 40, iss 7
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-conge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af2458f68aa4fcb5c281dc0138ea0bd4
https://europepmc.org/articles/PMC6661012/
https://europepmc.org/articles/PMC6661012/