Zobrazeno 1 - 10
of 97
pro vyhledávání: '"Carol Nelson‐Williams"'
Autor:
Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charuta G. Furey, Le Thi Hao, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, Carol Nelson-Williams, Di Chen, Boyang Li, Timothy Nottoli, Suxia Bai, Myron Rolle, Xue Zeng, Weilai Dong, Po-Ying Fu, Yung-Chun Wang, Shrikant Mane, Paulina Piwowarczyk, Katie Pricola Fehnel, Alfred Pokmeng See, Bermans J. Iskandar, Beverly Aagaard-Kienitz, Quentin J. Moyer, Evan Dennis, Emre Kiziltug, Adam J. Kundishora, Tyrone DeSpenza, Ana B. W. Greenberg, Seblewengel M. Kidanemariam, Andrew T. Hale, James M. Johnston, Eric M. Jackson, Phillip B. Storm, Shih-Shan Lang, William E. Butler, Bob S. Carter, Paul Chapman, Christopher J. Stapleton, Aman B. Patel, Georges Rodesch, Stanislas Smajda, Alejandro Berenstein, Tanyeri Barak, E. Zeynep Erson-Omay, Hongyu Zhao, Andres Moreno-De-Luca, Mark R. Proctor, Edward R. Smith, Darren B. Orbach, Seth L. Alper, Stefania Nicoli, Titus J. Boggon, Richard P. Lifton, Murat Gunel, Philip D. King, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-23 (2023)
Abstract To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human ce
Externí odkaz:
https://doaj.org/article/3ca7b90963454521ac767ab9c7496a24
Autor:
Zeeshan Gauhar, Leon Tejwani, Uzma Abdullah, Sadia Saeed, Shagufta Shafique, Mazhar Badshah, Jungmin Choi, Weilai Dong, Carol Nelson-Williams, Richard P. Lifton, Janghoo Lim, Ghazala K. Raja
Publikováno v:
Cells, Vol 11, Iss 19, p 3090 (2022)
Autosomal-recessive cerebellar ataxias (ARCAs) are heterogeneous rare disorders mainly affecting the cerebellum and manifest as movement disorders in children and young adults. To date, ARCA causing mutations have been identified in nearly 100 genes;
Externí odkaz:
https://doaj.org/article/8b4eb39ce0dc404498614cfcd9839e1d
Autor:
Weilai Dong, Sheng Chih Jin, August Allocco, Xue Zeng, Amar H. Sheth, Shreyas Panchagnula, Annie Castonguay, Louis-Étienne Lorenzo, Barira Islam, Geneviève Brindle, Karine Bachand, Jamie Hu, Agata Sularz, Jonathan Gaillard, Jungmin Choi, Ashley Dunbar, Carol Nelson-Williams, Emre Kiziltug, Charuta Gavankar Furey, Sierra Conine, Phan Q. Duy, Adam J. Kundishora, Erin Loring, Boyang Li, Qiongshi Lu, Geyu Zhou, Wei Liu, Xinyue Li, Michael C. Sierant, Shrikant Mane, Christopher Castaldi, Francesc López-Giráldez, James R. Knight, Raymond F. Sekula, Jr., J. Marc Simard, Emad N. Eskandar, Christopher Gottschalk, Jennifer Moliterno, Murat Günel, Jason L. Gerrard, Sulayman Dib-Hajj, Stephen G. Waxman, Fred G. Barker, II, Seth L. Alper, Mohamed Chahine, Shozeb Haider, Yves De Koninck, Richard P. Lifton, Kristopher T. Kahle
Publikováno v:
iScience, Vol 23, Iss 10, Pp 101552- (2020)
Summary: Trigeminal neuralgia (TN) is a common, debilitating neuropathic face pain syndrome often resistant to therapy. The familial clustering of TN cases suggests that genetic factors play a role in disease pathogenesis. However, no unbiased, large
Externí odkaz:
https://doaj.org/article/7d4dc8f9ca434d10935677d5c5a4aeb5
Autor:
Sheng Chih Jin, Charuta G. Furey, Xue Zeng, August Allocco, Carol Nelson‐Williams, Weilai Dong, Jason K. Karimy, Kevin Wang, Shaojie Ma, Eric Delpire, Kristopher T. Kahle
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)
Abstract Background Congenital hydrocephalus (CH) is a highly morbid disease that features enlarged brain ventricles and impaired cerebrospinal fluid homeostasis. Although early linkage or targeted sequencing studies in large multigenerational famili
Externí odkaz:
https://doaj.org/article/3db5cb3713634bbdb2d86ee4a140f6b9
Autor:
August A. Allocco, Sheng Chih Jin, Phan Q. Duy, Charuta G. Furey, Xue Zeng, Weilai Dong, Carol Nelson-Williams, Jason K. Karimy, Tyrone DeSpenza, Le T. Hao, Benjamin Reeves, Shozeb Haider, Murat Gunel, Richard P. Lifton, Kristopher T. Kahle
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 13 (2019)
BackgroundATP1A3 encodes the α3 subunit of the Na+/K+ ATPase, a fundamental ion-transporting enzyme. Primarily expressed in neurons, ATP1A3 is mutated in several autosomal dominant neurological diseases. To our knowledge, damaging recessive genotype
Externí odkaz:
https://doaj.org/article/8d2a0e7fad0f477a99d2250a2c9cda84
Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation
Autor:
Daniel M. Balkin, MD, PhD, Carol Nelson-Williams, BS, MS, Brandon J. Sumpio, BA, Daryl A. Scott, MD, PhD, Pierre Le Pabic, PhD, Thomas F. Schilling, PhD, Richard P. Lifton, MD, PhD, Deepak Narayan, MD
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 6, Iss 4S, Pp 142-143 (2018)
Externí odkaz:
https://doaj.org/article/8c39f2718d30424c834d4d5e59b69810
Autor:
Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton
Publikováno v:
eLife, Vol 5 (2016)
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes. To identify mutations contributing to common non-syndromic midline (sagittal and metopi
Externí odkaz:
https://doaj.org/article/1c3b4f1a817344c685c57052b2f73101
Autor:
Andrew T. Timberlake, PhD, Charuta G. Furey, BS, Jungmin Choi, PhD, Carol Nelson-Williams, BS, Derek M. Steinbacher, DMD MD, Dawid Larysz, MD, John A. Persing, MD, Richard P. Lifton, MD PhD
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 6, Iss 4S, Pp 66-66 (2018)
Externí odkaz:
https://doaj.org/article/922c96ec49c342f78929915bfec7c420
Autor:
Ute I Scholl, Gabriel Stölting, Carol Nelson-Williams, Alfred A Vichot, Murim Choi, Erin Loring, Manju L Prasad, Gerald Goh, Tobias Carling, C Christofer Juhlin, Ivo Quack, Lars C Rump, Anne Thiel, Marc Lande, Britney G Frazier, Majid Rasoulpour, David L Bowlin, Christine B Sethna, Howard Trachtman, Christoph Fahlke, Richard P Lifton
Publikováno v:
eLife, Vol 4 (2015)
Many Mendelian traits are likely unrecognized owing to absence of traditional segregation patterns in families due to causation by de novo mutations, incomplete penetrance, and/or variable expressivity. Genome-level sequencing can overcome these comp
Externí odkaz:
https://doaj.org/article/bf9b4f6d2a6542baaed75e72280bdc30
Autor:
Adam J. Kundishora, Garrett Allington, Stephen McGee, Kedous Y. Mekbib, Vladimir Gainullin, Andrew T. Timberlake, Carol Nelson-Williams, Emre Kiziltug, Hannah Smith, Jack Ocken, John Shohfi, August Allocco, Phan Q. Duy, Aladine A. Elsamadicy, Weilai Dong, Shujuan Zhao, Yung-Chun Wang, Hanya M. Qureshi, Michael L. DiLuna, Shrikant Mane, Irina R. Tikhonova, Po-Ying Fu, Christopher Castaldi, Francesc López-Giráldez, James R. Knight, Charuta G. Furey, Bob S. Carter, Shozeb Haider, Andres Moreno-De-Luca, Seth L. Alper, Murat Gunel, Francisca Millan, Richard P. Lifton, Rebecca I. Torene, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
Nature Medicine. 29:667-678
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ddcb39fe7c83d567c19dfb555a653bf
https://doi.org/10.1038/s41591-023-02238-2
https://doi.org/10.1038/s41591-023-02238-2