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10 results on '"Gholson Lyon"'

1. P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases

Author

Hellen Lesmann, Shahida Moosa, Tori Pantel, Stanislav Rosnev, Alexander Hustinx, Behnam Javanmardi, Alexej Knaus, Tom Kamphans, Wolfgang Meiswinkel, Jing-Mei Li, Merle ten Hagen, Pilar Caro, Clara Velmans, Matthias Höller, Ibrahim Abdelrazek, Gehad Elmakkawy, Khoushoua Alaadin, Kimberly Christine Coetzer, Frédéric Ebstein, Sebastian Küry, Ebtesam Abdalla, Miriam Elbracht, Cordula Knopp, Annabelle Arlt, Claudio Graziano, Borovikov Artem, Annette Uwineza, Felix Marbach, Christian Netzer, Rami Abou Jamra, Markus Nöthen, Gholson Lyon, Peter Krawitz, and Tzung-Chien Hsieh

Subjects
Genetics, QH426-470, Medicine
Published
2023
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2. P238: Discovery of the phenotypic landscape and mechanistic understanding of NAA10-related and NAA15-related neurodevelopmental syndromes, using mouse models and iPSCs

Author

Gholson Lyon, Marall Vedaie, Travis Beisheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Lois Starr, Katherine Sandomirsky, Hanyin Cheng, Isabelle Preddy, Marcellus Tseng, Quan Li, Kai Wang, Maureen Gavin, Karen Amble, Ronen Marmorstein, Ellen Herr-Israel, Randie Harpell, Melissa Nashat, Ning Ma, Nadjet Belbachir, Joseph Wu, Tzung-Chien Hsieh, Peter Krawitz, Alan Rope, Frederick Monsma, Josephine Wesely, Yu-Ren Chen, Christopher Hunter, Lauren Bauer, Tom Rusielewicz, Stephen Kneeland, Cat Lutz, Kathy Snow, Steve Murray, Andrea Gropman, Matthew Whitehead, Andrew Garcia, Fatima Inusa, Joseph Longo, Nicole Fleischer, David Bolton, Martin Reese, and Yu Hu

Subjects
Genetics, QH426-470, Medicine
Published
2023
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4. A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features

Author

Jason O'Rawe, Yiyang Wu, Alan Rope, Laura T. Jimenez Barrón, Jeffrey Swensen, Han Fang, David Mittelman, Gareth Highnam, Reid Robison, Edward Yang, Kai Wang, and Gholson Lyon

Subjects
Whole genome sequencing, Genetics, Palpebral fissure, Intellectual disability, medicine, Missense mutation, Genomics, Biology, Hypertelorism, medicine.symptom, medicine.disease, DNA sequencing, Exome sequencing
Abstract

We describe the discovery of a new genetic syndrome, RykDax syndrome, driven by a whole genome sequencing (WGS) study of one family from Utah with two affected male brothers, presenting with severe intellectual disability (ID), a characteristic intergluteal crease, and very distinctive facial features including a broad, upturned nose, sagging cheeks, downward sloping palpebral fissures, prominent periorbital ridges, deep-set eyes, relative hypertelorism, thin upper lip, a high-arched palate, prominent ears with thickened helices, and a pointed chin. This Caucasian family was recruited from Utah, USA. Illumina-based WGS was performed on 10 members of this family, with additional Complete Genomics-based WGS performed on the nuclear portion of the family (mother, father and the two affected males). Using WGS datasets from 10 members of this family, we can increase the reliability of the biological inferences with an integrative bioinformatic pipeline. In combination with insights from clinical evaluations and medical diagnostic analyses, these DNA sequencing data were used in the study of three plausible genetic disease models that might uncover genetic contribution to the syndrome. We found a 2 to 5-fold difference in the number of variants detected as being relevant for various disease models when using different sets of sequencing data and analysis pipelines. We derived greater accuracy when more pipelines were used in conjunction with data encompassing a larger portion of the family, with the number of putative de-novo mutations being reduced by 80%, due to false negative calls in the parents. The boys carry a maternally inherited missense variant in a X-chromosomal gene TAF1, which we consider as disease relevant. TAF1 is the largest subunit of the general transcription factor IID (TFIID) multi-protein complex, and our results implicate mutations in TAF1 as playing a critical role in the development of this new intellectual disability syndrome.

Published
2015
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6. Additional file 1: of Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

Author

Fang, Han, Yiyang Wu, Yang, Hui, Yoon, Margaret, JimĂŠnez-BarrĂłn, Laura, Mittelman, David, Robison, Reid, Wang, Kai, and Gholson Lyon

Subjects
3. Good health
Abstract

Supplemental Tables and Figures. This file includes supplemental figures S1-S8, tables S1-S10, pharmacogenomic analyses for individual K10031-10133, additional clinical information of individuals in the study, and video descriptions. (PDF 1491 kb)

7. Additional file 1: of Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

Author

Fang, Han, Yiyang Wu, Yang, Hui, Yoon, Margaret, JimĂŠnez-BarrĂłn, Laura, Mittelman, David, Robison, Reid, Wang, Kai, and Gholson Lyon

Subjects
3. Good health
Abstract

Supplemental Tables and Figures. This file includes supplemental figures S1-S8, tables S1-S10, pharmacogenomic analyses for individual K10031-10133, additional clinical information of individuals in the study, and video descriptions. (PDF 1491 kb)

10. Sex Differences in People with Tourette Syndrome and Persistent Motor or Vocal Tic Disorder in the Tourette Association of America International Consortium for Genetics Database.

Author

Dy-Hollins ME, Chibnik LB, Tracy NA, Osiecki L, Budman CL, Cath DC, Grados MA, King RA, Gholson L, Rouleau GA, Sandor P, Singer HS, Sharma N, Mathews CA, and Scharf J

Abstract

Background and Objective: Tourette Syndrome (TS) and Persistent Motor or Vocal Tic Disorders (PMVT) are more prevalent in males (vs. females). Females with TS may have a delay in diagnosis, and more complex tic features (vs. males). With respect to comorbidities, obsessive-compulsive disorder (OCD) is more prevalent in females; attention-deficit hyperactivity disorder (ADHD) is more prevalent in males. Less is known about sex differences in PMVT. This study analyzes sex differences in outcomes among individuals with TS and PMVT in the Tourette Association of America International Consortium for Genetics dataset (TAAICG)., Design/methods: Data from 2403 individuals (N=2109 TS; N=294 PMVT) from the TAAICG were analyzed to explore the relationship between sex and TS or PMVT outcomes: age at tic onset; age at diagnosis; time-to-diagnosis; tic severity; and comorbidity rates. Regression models were adjusted for age and family relationships to examine the impact of sex on outcomes., Results: Females with TS (25.5% of the sample) had a later age of symptom onset (6.5±2.8 vs. 6.0±2.7; p=0.001), later age at diagnosis (13.3±11.2 vs. 10.7±8.1; p=0.0001), and a longer time-to-diagnosis [3 (1,7) vs. 2 (1,5), p=0.01] than males. The total Yale-Global Tic Severity Scale (YGTSS) was lower in females with TS (28.4±9.1 vs. 30.7±8.7); p<0.0001); OCD was slightly more prevalent in females (55% vs. 48.7%; p=0.01) although OCD severity did not differ by sex; ADHD was more prevalent in males (55.7% vs 38.9%; p<0.001). Females with TS had 0.46 lower odds of being diagnosed with TS (p<0.00001). Females with PMVT (42.9% of the sample) had an earlier age of symptom onset (7.9±3.3 vs. 8.9±3.7; p=0.05). Motor or vocal tic severity (YGTSS) was not significantly different. OCD, but not ADHD, was more prevalent in females (OCD: 41.9% vs. 22.2%; p<0.001: ADHD:16.5% vs 21.0%; p=0.4)., Conclusion: Females with TS are less likely to be formally diagnosed and have a later age of symptom onset, later age at diagnosis, longer time-to-diagnosis, higher prevalence of OCD, and lower prevalence of ADHD (vs. males). Females with PMVT have an earlier age of symptom onset, higher prevalence of OCD, but similar ADHD prevalence rates (vs. males). Females with TS and PMVT may be clinically different than males with TS. Future research is needed to understand differences longitudinally in TS and PMVT.

Published
2024
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