What is he best known for?
The fields of study he is best known for:
- Gene
- Internal medicine
- Mutation
William A. Gahl focuses on Internal medicine, Cystinosis, Nephropathic Cystinosis, Genetics and Cystinosin.
His research in Internal medicine intersects with topics in Endocrinology, Gastroenterology, Pathology, Homogentisic acid and Alkaptonuria.
The concepts of his Cystinosis study are interwoven with issues in Cysteamine, Kidney, Surgery and Pediatrics.
William A. Gahl works mostly in the field of Nephropathic Cystinosis, limiting it down to topics relating to Cysteamine Bitartrate and, in certain cases, Renal function and Placebo, as a part of the same area of interest.
His work is dedicated to discovering how Genetics, Hermansky–Pudlak syndrome are connected with Protein subunit, Cell biology and Compound heterozygosity and other disciplines.
The study incorporates disciplines such as Lysosomal storage disease and Lysosomal transport in addition to Cystinosin.
His most cited work include:
- Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the β3A Subunit of the AP-3 Adaptor (596 citations)
- Platelet polyphosphates are proinflammatory and procoagulant mediators in vivo (565 citations)
- Phenotype and Course of Hutchinson–Gilford Progeria Syndrome (469 citations)
What are the main themes of his work throughout his whole career to date?
Internal medicine, Genetics, Endocrinology, Pathology and Cystinosis are his primary areas of study.
William A. Gahl combines topics linked to Gastroenterology with his work on Internal medicine.
He mostly deals with Renal function in his studies of Endocrinology.
His Pathology research focuses on Hermansky–Pudlak syndrome in particular.
His studies deal with areas such as Cystinosin, Cysteamine, Surgery and Nephropathic Cystinosis as well as Cystinosis.
His Nephropathic Cystinosis research incorporates themes from Lysosomal storage disease, Fanconi syndrome, Pediatrics and Transplantation.
He most often published in these fields:
- Internal medicine (25.98%)
- Genetics (21.09%)
- Endocrinology (19.55%)
What were the highlights of his more recent work (between 2017-2021)?
- Genetics (21.09%)
- Phenotype (5.73%)
- Disease (7.40%)
In recent papers he was focusing on the following fields of study:
William A. Gahl mainly investigates Genetics, Phenotype, Disease, Missense mutation and Internal medicine.
His research integrates issues of Molecular biology, Proband and Pathology in his study of Phenotype.
His studies in Disease integrate themes in fields like Natural history, Pediatrics and Bioinformatics.
His Missense mutation study also includes fields such as
- Hypotonia that intertwine with fields like Ataxia and Neurodevelopmental disorder,
- Bleeding diathesis and related Lysosomal trafficking regulator and Subclinical infection,
- Oculocutaneous albinism that connect with fields like Hermanski-Pudlak Syndrome, Dermatology and Hermansky–Pudlak syndrome.
His Internal medicine study combines topics in areas such as Gastroenterology and Endocrinology.
While the research belongs to areas of Endocrinology, he spends his time largely on the problem of Pathogenesis, intersecting his research to questions surrounding Cell biology.
Between 2017 and 2021, his most popular works were:
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease (103 citations)
- IRF2BPL Is Associated with Neurological Phenotypes. (33 citations)
- Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. (33 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
His primary scientific interests are in Genetics, Missense mutation, Phenotype, Molecular biology and Gene.
His Genetics study frequently links to adjacent areas such as Clinical research.
The study incorporates disciplines such as Neural development, Frameshift mutation, Axon guidance and Hypotonia, Internal medicine in addition to Missense mutation.
His research on Internal medicine often connects related areas such as Gastroenterology.
His biological study spans a wide range of topics, including Cerebellum, Dysautonomia, Comparative genomic hybridization and Pathology.
As a part of the same scientific study, William A. Gahl usually deals with the Molecular biology, concentrating on Intracellular and frequently concerns with Oxidative stress, Organomegaly and Vacuole.
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