Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Gabe, Haller"'
Autor:
Naeimeh Tayebi, Brian Leon‐Ricardo, Kevin McCall, Elvisa Mehinovic, Kristin Engelstad, Vincent Huynh, Tychele N. Turner, Judy Weisenberg, Liu L. Thio, Paul Hruz, Robin S. B. Williams, Darryl C. De Vivo, Vincent Petit, Gabe Haller, Christina A. Gurnett
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 787-801 (2023)
Abstract Objective The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible for Glut1DS. Methods The functional impact of 40 SNVs in
Externí odkaz:
https://doaj.org/article/8965eaa1967a46efa6f51cdbea956310
Autor:
Chengcheng Li, Jackson Wilborn, Sara Pittman, Jil Daw, Jorge Alonso-Pérez, Jordi Díaz-Manera, Conrad C. Weihl, Gabe Haller
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 12 (2023)
Genetic testing is essential for patients with a suspected hereditary myopathy. More than 50% of patients clinically diagnosed with a myopathy carry a variant of unknown significance in a myopathy gene, often leaving them without a genetic diagnosis.
Externí odkaz:
https://doaj.org/article/d80b71611c5f4cd7b0e9659e8d6e5684
Autor:
Gabe, Haller, Brooke, Sadler
Publikováno v:
Neurosurgery Clinics of North America. 34:55-60
Several studies have been performed to elucidate the genetic basis of Chiari I malformation (CM1). The heritability of CM1 is clear from twin studies, familial clustering, and the prevalence of CM1 among certain classes of Mendelian disorders, namely
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54e9a47954eecf90847e6e416041be35
https://doi.org/10.1016/j.nec.2022.07.001
https://doi.org/10.1016/j.nec.2022.07.001
Autor:
Gabe Haller, Kevin McCall, Supak Jenkitkasemwong, Brooke Sadler, Lilian Antunes, Momchil Nikolov, Julia Whittle, Zachary Upshaw, Jimann Shin, Erin Baschal, Carlos Cruchaga, Matthew Harms, Cathleen Raggio, Jose A. Morcuende, Philip Giampietro, Nancy H. Miller, Carol Wise, Ryan S. Gray, Lila Solnica-Krezel, Mitchell Knutson, Matthew B. Dobbs, Christina A. Gurnett
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-7 (2018)
The majority of scoliosis is considered idiopathic with onset in adolescence (AIS) and has a genetic contribution. Here, the authors perform an exome wide association study of data from 457 severe AIS cases and 987 controls, and find a missense varia
Externí odkaz:
https://doaj.org/article/04b3d3a563384542b1a9a97bf011c0d4
Publikováno v:
Tuesday, April 25.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4d1e3783ad2bcdef803dabb1f09564a2
https://doi.org/10.1212/wnl.0000000000203111
https://doi.org/10.1212/wnl.0000000000203111
Autor:
Shilpa Jain, Ayesha Zia, Margaret V. Ragni, Jennifer E. Dietrich, Peter A. Kouides, Robert F. Sidonio, Charles G. Minard, Eric S. Mullins, Gabe Haller, Allison P. Wheeler, Christina A. Gurnett, Sarah H. O'Brien, Lakshmi Srivaths, Brooke Sadler, Mukta Sharma, Roshni Kulkarni, Jorge Di Paola
Publikováno v:
Blood Advances
Key Points HMB is associated with rare and common variants in genes related to anemias and bleeding disorders.These are the first exome-sequencing results from patients with HMB, as well as their comparison with control exomes.
Visual Abstract
Visual Abstract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec5e92a9c4c2063ac527bd4534b4ce6f
http://europepmc.org/articles/PMC8791588
http://europepmc.org/articles/PMC8791588
Autor:
Richard C E Anderson, Gabrielle W. Johnson, Gabe Haller, Joshua S. Shimony, Michael P. Kelly, W. Jerry Oakes, Nickalus Khan, Scott D. Wait, Joshua J. Chern, James M. Johnston, Gregory W. Albert, Laurie L. Ackerman, Michael S. Muhlbauer, Douglas L. Brockmeyer, Jennifer M. Strahle, Francesco T. Mangano, Gregory G. Heuer, John C. Wellons, J. Gordon McComb, Jeffrey P. Greenfield, Timothy M. George, Daniel E. Couture, Jodi L. Smith, David J. Daniels, Mark D. Krieger, Herbert E. Fuchs, Brent R. O'Neill, James C. Torner, Bermans J. Iskandar, Jeffrey R. Leonard, John Ragheb, Eric M. Jackson, David F. Bauer, Ramin Eskandari, Andrew Jea, Mandeep S. Tamber, Phillipp R. Aldana, Robert F. Keating, Lissa C. Baird, Matthew D. Smyth, Mark Iantosca, Stephanie Greene, Greg Olavarria, Todd C. Hankinson, Cormac O. Maher, Raheel Ahmed, Karin S. Bierbrauer, Tord D. Alden, P. David Adelson, Chevis N. Shannon, Nathan R. Selden, Tae Sung Park, Richard G. Ellenbogen, Susan R Durham, Naina L. Gross, Travis S. CreveCoeur, Arnold H. Menezes, Scellig S D Stone, Timothy B. Mapstone, David D. Limbrick, Robert C. Dauser, Daniel J. Guillaume, Alexander T. Yahanda, Manish N. Shah, William E. Whitehead, Gerald A. Grant, Gerald F. Tuite, Patrick Graupman
Publikováno v:
Neurosurgery
BACKGROUND: Occipital-cervical fusion (OCF) and ventral decompression (VD) may be used in the treatment of pediatric Chiari-1 malformation (CM-1) with syringomyelia (SM) as adjuncts to posterior fossa decompression (PFD) for complex craniovertebral j
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f42ca555bda433edd403d6e62e94b44
https://doi.org/10.1093/neuros/nyaa460
https://doi.org/10.1093/neuros/nyaa460
Autor:
Momchil Nikolov, Lilian Antunes, Bradley Coe, Matthew B. Dobbs, Christina A. Gurnett, Ina E Amarillo, Brooke Sadler, Gabe Haller
Publikováno v:
Journal of Medical Genetics. 57:851-857
IntroductionCongenital clubfoot is a common birth defect that affects at least 0.1% of all births. Nearly 25% cases are familial and the remaining are sporadic in inheritance. Copy number variants (CNVs) involving transcriptional regulators of limb d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::223af06e00565c33b1d788979dcd9b28
https://doi.org/10.1136/jmedgenet-2020-106842
https://doi.org/10.1136/jmedgenet-2020-106842
Autor:
Gabe Haller, Matthew B. Dobbs, Jennifer Strahle, Timothy Kuensting, Brooke Sadler, David D. Limbrick, Christina A. Gurnett, Matthew D. Smyth, Tae Sung Park
Publikováno v:
Pediatr Neurol
Background Chiari malformation type 1 affects approximately one in 1,000 people symptomatically, although one in 100 meet radiological criteria, making it a common neurological disorder. The diagnosis of underlying conditions has become more sophisti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::757be540218d71cb23570c9e808fe10b
https://doi.org/10.1016/j.pediatrneurol.2019.12.005
https://doi.org/10.1016/j.pediatrneurol.2019.12.005
Autor:
Brooke Sadler, Gabe Haller, Howard Edenberg, Jay Tischfield, Andy Brooks, John Kramer, Marc Schuckit, John Nurnberger, Alison Goate
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0134393 (2015)
Much of the evolution of human behavior remains a mystery, including how certain disadvantageous behaviors are so prevalent. Nicotine addiction is one such phenotype. Several loci have been implicated in nicotine related phenotypes including the nico
Externí odkaz:
https://doaj.org/article/65249bd98a044ef2874f11aad48cc0c6