Общедоступные статьи - Alan H. Beggs, PhDПодробнее...
2 статьи недоступны нигде
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PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy
S Panneerselvam, J Wang, W Zhu, H Dai, JG Pappas, R Rabin, KJ Low, ...
Clinical genetics 100 (2), 227-233, 2021
Финансирование: US National Institutes of Health
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MP60-02 ATP2C1 IS A CANDIDATE FOR INTERSTITIAL CYSTITIS/BLADDER PAIN SYNDROME
C Brownstein, E Estrella, S Rockowitz, M Thorne, P Smith, J Petit, ...
Journal of Urology 209 (Supplement 4), e842, 2023
Финансирование: US National Institutes of Health
235 статей доступны в некоторых источниках
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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ...
Science translational medicine 9 (386), eaal5209, 2017
Финансирование: US National Institutes of Health, National Health and Medical Research …
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Patient-customized oligonucleotide therapy for a rare genetic disease
J Kim, C Hu, C Moufawad El Achkar, LE Black, J Douville, A Larson, ...
New England Journal of Medicine 381 (17), 1644-1652, 2019
Финансирование: US National Institutes of Health
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Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients
HT Gazda, MR Sheen, A Vlachos, V Choesmel, MF O'Donohue, ...
The American Journal of Human Genetics 83 (6), 769-780, 2008
Финансирование: US National Institutes of Health
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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
VG Sankaran, R Ghazvinian, R Do, P Thiru, JA Vergilio, AH Beggs, ...
The Journal of clinical investigation 122 (7), 2439-2443, 2012
Финансирование: US National Institutes of Health
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Approach to the diagnosis of congenital myopathies
KN North, CH Wang, N Clarke, H Jungbluth, M Vainzof, JJ Dowling, ...
Neuromuscular disorders 24 (2), 97-116, 2014
Финансирование: US National Institutes of Health, UK Medical Research Council
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Altered translation of GATA1 in Diamond-Blackfan anemia
LS Ludwig, HT Gazda, JC Eng, SW Eichhorn, P Thiru, R Ghazvinian, ...
Nature medicine 20 (7), 748-753, 2014
Финансирование: US National Institutes of Health
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Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
JE Farrar, M Nater, E Caywood, MA McDevitt, J Kowalski, CM Takemoto, ...
Blood, The Journal of the American Society of Hematology 112 (5), 1582-1592, 2008
Финансирование: US National Institutes of Health
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Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species
M Tabebordbar, KA Lagerborg, A Stanton, EM King, S Ye, L Tellez, ...
Cell 184 (19), 4919-4938. e22, 2021
Финансирование: US National Institutes of Health, Howard Hughes Medical Institute
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Mutations and polymorphisms of the skeletal muscle α‐actin gene (ACTA1)
NG Laing, DE Dye, C Wallgren‐Pettersson, G Richard, N Monnier, S Lillis, ...
Human mutation 30 (9), 1267-1277, 2009
Финансирование: US National Institutes of Health
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The ribosomal basis of Diamond‐Blackfan Anemia: mutation and database update
I Boria, E Garelli, HT Gazda, A Aspesi, P Quarello, E Pavesi, D Ferrante, ...
Human mutation 31 (12), 1269-1279, 2010
Финансирование: US National Institutes of Health, Fondazione Telethon, Italy
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The genetic landscape of Diamond-Blackfan anemia
JC Ulirsch, JM Verboon, S Kazerounian, MH Guo, D Yuan, LS Ludwig, ...
The American Journal of Human Genetics 103 (6), 930-947, 2018
Финансирование: US National Institutes of Health
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Newborn sequencing in genomic medicine and public health
JS Berg, PB Agrawal, DB Bailey, AH Beggs, SE Brenner, AM Brower, ...
Pediatrics 139 (2), 2017
Финансирование: US National Institutes of Health
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Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq Project
O Ceyhan-Birsoy, JB Murry, K Machini, MS Lebo, WY Timothy, S Fayer, ...
The American Journal of Human Genetics 104 (1), 76-93, 2019
Финансирование: US National Institutes of Health
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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
O Ceyhan-Birsoy, PB Agrawal, C Hidalgo, K Schmitz-Abe, ET DeChene, ...
Neurology 81 (14), 1205-1214, 2013
Финансирование: US National Institutes of Health
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Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
G Ravenscroft, S Miyatake, VL Lehtokari, EJ Todd, P Vornanen, KS Yau, ...
The American Journal of Human Genetics 93 (1), 6-18, 2013
Финансирование: US National Institutes of Health, National Health and Medical Research …
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Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
MC Manzini, DE Tambunan, RS Hill, WY Tim, TM Maynard, EL Heinzen, ...
The American Journal of Human Genetics 91 (3), 541-547, 2012
Финансирование: US National Institutes of Health, Howard Hughes Medical Institute …
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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
L Al-Qusairi, N Weiss, A Toussaint, C Berbey, N Messaddeq, C Kretz, ...
Proceedings of the National Academy of Sciences 106 (44), 18763-18768, 2009
Финансирование: US National Institutes of Health, National Institute of Health and Medical …
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Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy
MK Childers, R Joubert, K Poulard, C Moal, RW Grange, JA Doering, ...
Science translational medicine 6 (220), 220ra10-220ra10, 2014
Финансирование: US National Institutes of Health, National Institute of Health and Medical …
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