William A. Gahl

39.8k total citations · 2 hit papers
487 papers, 18.3k citations indexed

About

William A. Gahl is a scholar working on Molecular Biology, Cell Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, William A. Gahl has authored 487 papers receiving a total of 18.3k indexed citations (citations by other indexed papers that have themselves been cited), including 181 papers in Molecular Biology, 107 papers in Cell Biology and 104 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in William A. Gahl's work include Biomedical Research and Pathophysiology (94 papers), Neonatal Health and Biochemistry (82 papers) and melanin and skin pigmentation (77 papers). William A. Gahl is often cited by papers focused on Biomedical Research and Pathophysiology (94 papers), Neonatal Health and Biochemistry (82 papers) and melanin and skin pigmentation (77 papers). William A. Gahl collaborates with scholars based in United States, Cameroon and United Kingdom. William A. Gahl's co-authors include Marjan Huizing, Isa Bernardini, Yair Anikster, Vorasuk Shotelersuk, Thomas C. Markello, Robert Kleta, Meral Gunay‐Aygun, Wendy J. Introne, Juan S. Bonifacino and Galina Nesterova and has published in prestigious journals such as Science, New England Journal of Medicine and Cell.

In The Last Decade

William A. Gahl

477 papers receiving 17.9k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Platelet Polyphosphates Are Proinflammatory and Procoagulant Mediators In Vivo

2009 620 citations William A. Gahl et al. profile →
Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 Adaptor

1999 531 citations William A. Gahl et al. profile →

Peers

Countries citing papers authored by William A. Gahl

Since Specialization

Citations

This map shows the geographic impact of William A. Gahl's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by William A. Gahl with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites William A. Gahl more than expected).

Fields of papers citing papers by William A. Gahl

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by William A. Gahl. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by William A. Gahl. The network helps show where William A. Gahl may publish in the future.

Co-authorship network of co-authors of William A. Gahl

This figure shows the co-authorship network connecting the top 25 collaborators of William A. Gahl. A scholar is included among the top collaborators of William A. Gahl based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with William A. Gahl. William A. Gahl is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study 2024 ·Molecular Genetics and Metabolism ·Koenraad Veys, Mohamed A. Elmonem, Lambert van den Heuvel, William A. Gahl, Elena Levtchenko	2
2	Insights into the renal pathophysiology in Hermansky‐Pudlak syndrome‐1 from urinary extracellular vesicle proteomics and a new mouse model 2024 ·FEBS Letters ·Dawn Maynard, Bernadette R. Gochuico, (unknown), Christopher K. E. Bleck, Patricia M. Zerfas, Wendy J. Introne, William A. Gahl, May Christine V. Malicdan	0
3	Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features 2024 ·Human Genetics ·Prashant Sharma, (unknown), (unknown), Thomas C. Markello, Dorothy K. Grange, Wendy J. Introne, William A. Gahl, May Christine V. Malicdan	0
4	Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC) 2024 ·Vascular Medicine ·Elisa A. Ferrante, Cornelia Cudrici, (unknown), Yi‐Ping Fu, Rebecca D. Huffstutler, (unknown), Marcus Y. Chen, Cynthia St. Hilaire, Kevin M. Smith, Hadi Bagheri, James D. Katz, Carlos R. Ferreira, William A. Gahl, Manfred Boehm, Alessandra Brofferio	4
5	LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size 2023 ·Cellular and Molecular Life Sciences ·(unknown), (unknown), Raffaella De Pace, Javier Manzella‐Lapeira, Antony Cougnoux, Keyvan Keyvanfar, Wendy J. Introne, Joseph Brzostowski, Michael E. Ward, William A. Gahl, Prashant Sharma, May Christine V. Malicdan	10
6	Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature 2023 ·Journal of Medical Genetics ·Marie Morimoto, Elena‐Raluca Nicoli, (unknown), Joseph C. Roney, (unknown), Prashant Sharma, David R. Adams, John I. Gallin, Steven M. Holland, Sergio D. Rosenzweig, José Barbot, Carla Ciccone, Marjan Huizing, Camilo Toro, William A. Gahl, Wendy J. Introne, May Christine V. Malicdan	8
7	Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program 2022 ·Journal of Inherited Metabolic Disease ·Carolina Montaño, (unknown), Shira G. Ziegler, Manfred Boehm, Elena‐Raluca Nicoli, Joseph A. Mindell, Ariane Soldatos, Irini Manoli, Lynne A. Wolfe, Ellen F. Macnamara, May Christine V. Malicdan, David R. Adams, Cynthia J. Tifft, Camilo Toro, William A. Gahl	4
8	A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease 2020 ·American Journal of Medical Genetics Part A ·Elizabeth A. Burke, (unknown), Lynne A. Wolfe, Brian P. Brooks, John J. DiGiovanna, Donald W. Hadley, Tanya Lehky, Andrea Gropman, Cynthia J. Tifft, William A. Gahl, Camilo Toro, David R. Adams	7
9	Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype 2019 ·PLoS Genetics ·Prashant Sharma, (unknown), Yan Lu, Thomas C. Markello, David R. Adams, Peter Steinbach, Brie K. Fuqua, (unknown), Stephen G. Kaler, Chris D. Vulpe, Gregory J. Anderson, William A. Gahl, May Christine V. Malicdan	18
10	Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features 2018 ·Journal of Medical Genetics ·Angelo M. Taveira‐DaSilva, Thomas C. Markello, David E. Kleiner, Amanda M. Jones, Catherine Groden, Ellen F. Macnamara, Tadafumi Yokoyama, William A. Gahl, Bernadette R. Gochuico, Joel Moss	39
11	Skeletal Consequences of Nephropathic Cystinosis 2018 ·Journal of Bone and Mineral Research ·Pablo Florenzano, Carlos R. Ferreira, Galina Nesterova, Mary Scott Roberts, Sri Harsha Tella, Luis F de Castro, (unknown), (unknown), Renata C. Pereira, Dorothy Bulas, Rachel I. Gafni, Isidro B. Salusky, William A. Gahl, Michael T. Collins	21
12	Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype 2018 ·American Journal of Medical Genetics Part A ·Valerie Gartner, Thomas C. Markello, Ellen F. Macnamara, Andrea De Biase, Audrey Thurm, Lisa Joseph, Alan H. Beggs, Jeremy D. Schmahmann, Gerard T. Berry, Irina Anselm, (unknown), Cynthia J. Tifft, William A. Gahl, Paul R. Lee	15
13	Quantification of lectin fluorescence in GNE myopathy muscle biopsies 2018 ·Muscle & Nerve ·Petcharat Leoyklang, (unknown), S. Noguchi, William A. Gahl, Nuria Carrillo, Ichizo Nishino, Marjan Huizing, May Christine V. Malicdan	12
14	Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center 2018 ·Ophthalmology ·Brian P. Brooks, Wadih M. Zein, A. Thompson, (unknown), Dan Doherty, Melissa A. Parisi, Ian A. Glass, May Christine V. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay‐Aygun	41
15	ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13 2017 ·PLoS Genetics ·Yihan Zhang, Haigen Huang, Gexin Zhao, Tadafumi Yokoyama, Hugo Vega, Yan Huang, Raman Sood, (unknown), Valerie V. Maduro, (unknown), Camilo Toro, Cornelius F. Boerkoel, Karen M. Lyons, William A. Gahl, Xiaohong Duan, May Christine V. Malicdan, Shuo Lin	45
16	Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients 2017 ·American Journal of Medical Genetics Part A ·(unknown), Carmen C. Brewer, Olga Stakhovskaya, (unknown), (unknown), Joy Bryant, Kelly King, Jürgen Κ. Naggert, William A. Gahl, Jan D. Marshall, Meral Gunay‐Aygun	14
17	Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification 2016 ·American Journal of Medical Genetics Part A ·Carlos R. Ferreira, Shira G. Ziegler, (unknown), Catherine Groden, Kevin S. Hsu, William A. Gahl	21
18	Immne response to bacterial antigens indicates recurrent acute anterior uveitis 2002 ·British Journal of Ophthalmology ·William A. Gahl, Jess G. Thoene, (unknown), Jerry A. Schneider, David B. Granet, Ekaterini Tsilou, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown)	2
19	Platelet von Willebrand factor in Hermansky-Pudlak syndrome 1998 ·American Journal of Hematology ·Laurie P. McKeown, (unknown), (unknown), William A. Gahl, Harvey R. Gralnick, (unknown), Stephen J. Rosenfeld, McDonald K. Horne, Margaret E. Rick	8
20	Carbohydrate-deficient Glycoprotein Syndrome 1997 ·Advances in Pediatrics ·Donna M. Krasnewich, William A. Gahl	70

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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