What is he best known for?
The fields of study he is best known for:
Marjan Huizing mostly deals with Genetics, Hermansky–Pudlak syndrome, Oculocutaneous albinism, Cell biology and Mutation.
His Genetics research includes elements of Molecular biology and Computational biology.
His work on Hermanski-Pudlak Syndrome as part of general Hermansky–Pudlak syndrome study is frequently linked to FEV1/FVC ratio, bridging the gap between disciplines.
His study in Oculocutaneous albinism is interdisciplinary in nature, drawing from both Nonsense mutation and Intracellular vesicle.
His Cell biology study combines topics from a wide range of disciplines, such as Melanosome, Lysosome, Membrane protein and Chédiak–Higashi syndrome.
His Mutation research integrates issues from Endocrinology, Immunology and Exon.
His most cited work include:
- An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist (678 citations)
- Natural History of Alkaptonuria (382 citations)
- Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. (288 citations)
What are the main themes of his work throughout his whole career to date?
His primary scientific interests are in Genetics, Hermansky–Pudlak syndrome, Oculocutaneous albinism, Pathology and Mutation.
His Hermansky–Pudlak syndrome research is multidisciplinary, relying on both Intracellular vesicle, Organelle biogenesis and Cell biology.
The study incorporates disciplines such as Nonsense mutation and Hypopigmentation in addition to Oculocutaneous albinism.
The concepts of his Pathology study are interwoven with issues in Bleeding diathesis and Internal medicine.
His study looks at the relationship between Mutation and fields such as Endocrinology, as well as how they intersect with chemical problems.
In his research on the topic of Gene, Sialic acid is strongly related with Molecular biology.
He most often published in these fields:
- Genetics (29.95%)
- Hermansky–Pudlak syndrome (28.43%)
- Oculocutaneous albinism (22.34%)
What were the highlights of his more recent work (between 2015-2021)?
- Genetics (29.95%)
- Missense mutation (10.15%)
- Myopathy (8.12%)
In recent papers he was focusing on the following fields of study:
Marjan Huizing focuses on Genetics, Missense mutation, Myopathy, GNE MYOPATHY and Bioinformatics.
His study in the fields of Exome sequencing, Mutation, Allele and Gene under the domain of Genetics overlaps with other disciplines such as Intronic Mutation.
His Missense mutation research includes themes of Hermansky–Pudlak syndrome, Ciliogenesis, Exome, Exon and Etiology.
His Hermansky–Pudlak syndrome study integrates concerns from other disciplines, such as Nonsense mutation and Ocular albinism.
In Exome, he works on issues like Hypopigmentation, which are connected to Oculocutaneous albinism.
His Myopathy study combines topics in areas such as Sialic acid, N-Acetylneuraminic acid, Muscle weakness and Atrophy.
Between 2015 and 2021, his most popular works were:
- Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects (20 citations)
- Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS (18 citations)
- Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. (18 citations)
In his most recent research, the most cited papers focused on:
Marjan Huizing mainly focuses on Missense mutation, Genetics, Pathology, Hermansky–Pudlak syndrome and Exome sequencing.
The Missense mutation study combines topics in areas such as Hereditary inclusion body myopathy, Joubert syndrome, Pathophysiology, Etiology and Weakness.
His Mutation, Exome, Exon and Compound heterozygosity study in the realm of Genetics interacts with subjects such as Intronic Mutation.
His work carried out in the field of Pathology brings together such families of science as Nonsense mutation and Oculocutaneous albinism.
Marjan Huizing integrates Hermansky–Pudlak syndrome with Immunodeficiency in his research.
Marjan Huizing works mostly in the field of Exome sequencing, limiting it down to concerns involving Neurodevelopmental disorder and, occasionally, Phenotype.
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