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Gahl, William Allen
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: DUR-GAK, 2022, p.3818-3818
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Gahl, William Allen
Journal title:American Men & Women of Science : A Biographical Directory of Today’s Leaders in Physical, Biological and Related Sciences: DUR-GAK, 2021, p.3801-3801
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ArticlesPeer ReviewedFull Text
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome
Author / Creator:Li, Chong ; Brazill, Jennifer M. ; Liu, Sha ; Bello, Christofer ; Zhu, Yi ; Morimoto, Marie ; Cascio, Lauren ; Pauly, Rini ; Diaz-Perez, Zoraida ; Malicdan, May Christine V. ; Wang, Hongbo ; Boccuto, Luigi ; Schwartz, Charles E. ; Gahl, William A. ; Boerkoel, Cornelius F. ; Zhai, R. Grace
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-11, Vol.8 (1), p.1257-15, Article 1257
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Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
Author / Creator:Lam, Christina ; Ferreira, Carlos ; Krasnewich, Donna ; Toro, Camilo ; Latham, Lea ; Zein, Wadih M. ; Lehky, Tanya ; Brewer, Carmen ; Baker, Eva H. ; Thurm, Audrey ; Farmer, Cristan A. ; Rosenzweig, Sergio D. ; Lyons, Jonathan J. ; Schreiber, John M. ; Gropman, Andrea ; Lingala, Shilpa ; Ghany, Marc G. ; Solomon, Beth ; Macnamara, Ellen ; Davids, Mariska ; Stratakis, Constantine A. ; Kimonis, Virginia ; Gahl, William A. ; Wolfe, Lynne
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2017-02, Vol.19 (2), p.160-168
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Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane
Author / Creator:Qin, Lizheng ; Liu, Xibao ; Sun, Qifei ; Fan, Zhipeng ; Xia, Dengsheng ; Ding, Gang ; Ong, Hwei Ling ; Adams, David ; Gahl, William A ; Zheng, Changyu ; Qi, Senrong ; Jin, Luyuan ; Zhang, Chunmei ; Gu, Liankun ; He, Junqi ; Deng, Dajun ; Ambudkar, Indu S ; Wang, Songlin
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2012-08, Vol.109 (33), p.13434-13439
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ArticlesPeer ReviewedFull Text
Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments
Author / Creator:Klein, Christoph ; Gahl, William A
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2018-01, Vol.10 (1), p.1-3
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Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group
Author / Creator:Gahl, William A. ; Wong-Rieger, Durhane ; Hivert, Virginie ; Yang, Rachel ; Zanello, Galliano ; Groft, Stephen
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-308, Article 308
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Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Author / Creator:Sharma, Prashant ; Reichert, Marie ; Lu, Yan ; Markello, Thomas C. ; Adams, David R. ; Steinbach, Peter J. ; Fuqua, Brie K. ; Parisi, Xenia ; Kaler, Stephen G. ; Vulpe, Christopher D. ; Anderson, Gregory J. ; Gahl, William A. ; Malicdan, May Christine V.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2019-05, Vol.15 (5), p.e1008143
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Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts
Author / Creator:Lewis, Connor J. ; Johnston, Jean M. ; Zaragoza Domingo, Silvia ; Vezina, Gilbert ; D’Souza, Precilla ; Gahl, William A. ; Adams, David A. ; Tifft, Cynthia J. ; Acosta, Maria T.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-03, Vol.20 (1), p.125-13, Article 125
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ArticlesPeer ReviewedFull Text
DDX58 and Classic Singleton-Merten Syndrome
Author / Creator:Ferreira, Carlos R. ; Crow, Yanick J. ; Gahl, William A. ; Gardner, Pamela J. ; Goldbach-Mansky, Raphaela ; Hur, Sun ; de Jesús, Adriana Almeida ; Nehrebecky, Michele ; Park, Ji Woo ; Briggs, Tracy A.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2019-01, Vol.39 (1), p.75-80
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ArticlesPeer ReviewedFull Text
ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13
Author / Creator:Zhang, Yihan ; Huang, Haigen ; Zhao, Gexin ; Yokoyama, Tadafumi ; Vega, Hugo ; Huang, Yan ; Sood, Raman ; Bishop, Kevin ; Maduro, Valerie ; Accardi, John ; Toro, Camilo ; Boerkoel, Cornelius F. ; Lyons, Karen ; Gahl, William A. ; Duan, Xiaohong ; Malicdan, May Christine V. ; Lin, Shuo
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2017-02, Vol.13 (2), p.e1006481-e1006481
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ArticlesPeer ReviewedFull Text
FOXR1 regulates stress response pathways and is necessary for proper brain development
Author / Creator:Mota, Andressa ; Waxman, Hannah K. ; Hong, Rui ; Lagani, Gavin D. ; Niu, Sheng-Yong ; Bertherat, Féodora L. ; Wolfe, Lynne ; Malicdan, Christine May ; Markello, Thomas C. ; Adams, David R. ; Gahl, William A. ; Cheng, Christine S. ; Beffert, Uwe ; Ho, Angela
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2021-11, Vol.17 (11), p.e1009854-e1009854
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ArticlesPeer ReviewedFull Text
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
Author / Creator:Pierson, Tyler Mark ; Adams, David ; Bonn, Florian ; Martinelli, Paola ; Cherukuri, Praveen F. ; Teer, Jamie K. ; Hansen, Nancy F. ; Cruz, Pedro ; Mullikin for the NISC Comparative Sequencing Program, James C. ; Blakesley, Robert W. ; Golas, Gretchen ; Kwan, Justin ; Sandler, Anthony ; Fuentes Fajardo, Karin ; Markello, Thomas ; Tifft, Cynthia ; Blackstone, Craig ; Rugarli, Elena I. ; Langer, Thomas ; Gahl, William A. ; Toro, Camilo
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2011-10, Vol.7 (10), p.e1002325-e1002325
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Chitinase 3–like–1 and its receptors in Hermansky-Pudlak syndrome–associated lung disease
Author / Creator:Zhou, Yang ; He, Chuan Hua ; Herzog, Erica L. ; Peng, Xueyan ; Lee, Chang-Min ; Nguyen, Tung H. ; Gulati, Mridu ; Gochuico, Bernadette R. ; Gahl, William A. ; Slade, Martin L. ; Lee, Chun Geun ; Elias, Jack A.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2015-08, Vol.125 (8), p.3178-3192
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Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation
Author / Creator:El-Chemaly, Souheil ; O’Brien, Kevin J. ; Nathan, Steven D. ; Weinhouse, Gerald L. ; Goldberg, Hilary J. ; Connors, Jean M. ; Cui, Ye ; Astor, Todd L. ; Camp, Philip C. ; Rosas, Ivan O. ; Lemma, Merte ; Speransky, Vladislav ; Merideth, Melissa A. ; Gahl, William A. ; Gochuico, Bernadette R.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-03, Vol.13 (3), p.e0194193-e0194193
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Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome
Author / Creator:Abudi-Sinreich, Shachar ; Bodine, Steven P. ; Yokoyama, Tadafumi ; Tolman, Nathanial J. ; Tyrlik, Michal ; Testa, Lauren C. ; Han, Chen G. ; Dorward, Heidi M. ; Wincovitch, Stephen M. ; Anikster, Yair ; Gahl, William A. ; Cinar, Resat ; Gochuico, Bernadette R. ; Malicdan, May Christine V.
Publisher:England: BioMed Central
Journal title:Respiratory research, 2022-05, Vol.23 (1), p.112-10, Article 112
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Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an Adaptor Protein-3 Complex Disease
Author / Creator:Gochuico, Bernadette R. ; Huizing, Marjan ; Golas, Gretchen A. ; Scher, Charles D. ; Tsokos, Maria ; Denver, Stacey D. ; Frei-Jones, Melissa J. ; Gahl, William A.
Publisher:England: BioMed Central
Journal title:Molecular medicine (Cambridge, Mass.), 2012-01, Vol.18 (1), p.56-64
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Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome
Author / Creator:Trimble, Aaron ; Gochuico, Bernadette R. ; Markello, Thomas C. ; Fischer, Roxanne ; Gahl, William A. ; Lee, Jae K. ; Kim, Youngchul ; Burdick, Marie D. ; Strieter, Robert M. ; Mehrad, Borna
Publisher:United States: American Thoracic Society
Journal title:American journal of respiratory and critical care medicine, 2014-12, Vol.190 (12), p.1395-1401
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Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants
Author / Creator:Berger, Seth I. ; Ciccone, Carla ; Simon, Karen L. ; Malicdan, May Christine ; Vilboux, Thierry ; Billington, Charles ; Fischer, Roxanne ; Introne, Wendy J. ; Gropman, Andrea ; Blancato, Jan K. ; Mullikin, James C. ; Gahl, William A. ; Huizing, Marjan ; Smith, Ann C. M.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2017-04, Vol.136 (4), p.409-420
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Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine
Author / Creator:Galeano, Belinda ; Klootwijk, Riko ; Manoli, Irini ; Sun, MaoSen ; Ciccone, Carla ; Darvish, Daniel ; Starost, Matthew F. ; Zerfas, Patricia M. ; Hoffmann, Victoria J. ; Hoogstraten-Miller, Shelley ; Krasnewich, Donna M. ; Gahl, William A. ; Huizing, Marjan
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2007-06, Vol.117 (6), p.1585-1594
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Showing 1 to 20 of 199 results

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Gahl, William Allen

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Gahl, William Allen

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Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

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Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

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Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane

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Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments

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Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group

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Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

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Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts

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DDX58 and Classic Singleton-Merten Syndrome

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ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

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FOXR1 regulates stress response pathways and is necessary for proper brain development

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Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

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Chitinase 3–like–1 and its receptors in Hermansky-Pudlak syndrome–associated lung disease

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Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation

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Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome

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Interstitial Lung Disease and Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Type 2, an Adaptor Protein-3 Complex Disease

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Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome

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Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variants

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Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

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