What is he best known for?
The fields of study he is best known for:
His primary areas of investigation include Genetics, Joubert syndrome, TMEM67, Hypotonia and Gene.
His Genetics and Chromosome, Amyotrophy, Mutation, Carcinogenesis and Juvenile amyotrophic lateral sclerosis investigations all form part of his Genetics research activities.
Anatomy is closely connected to Ataxia in his research, which is encompassed under the umbrella topic of Joubert syndrome.
His research integrates issues of Coloboma and RPGRIP1L in his study of TMEM67.
His Hypotonia research is multidisciplinary, incorporating perspectives in Polydactyly and Nephronophthisis.
His research in the fields of X chromosome overlaps with other disciplines such as IPEX syndrome, Hereditary neuralgic amyotrophy and Septin.
His most cited work include:
- The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. (2636 citations)
- DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4) (639 citations)
- The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome (202 citations)
What are the main themes of his work throughout his whole career to date?
Genetics, Hereditary neuralgic amyotrophy, Gene, Gene duplication and Pathology are his primary areas of study.
All of his Genetics and Locus, Gene mapping, Haplotype, Genetic linkage and Mutation investigations are sub-components of the entire Genetics study.
Many of his studies on Gene apply to Molecular biology as well.
His Gene duplication research is multidisciplinary, incorporating elements of Chromosome, Breakpoint, Point mutation and Hereditary motor and sensory neuropathy.
His study in Atrophy is interdisciplinary in nature, drawing from both Juvenile amyotrophic lateral sclerosis and Muscle weakness, Anatomy, Motor nerve.
He conducts interdisciplinary study in the fields of X chromosome and IPEX syndrome through his research.
He most often published in these fields:
- Genetics (58.14%)
- Hereditary neuralgic amyotrophy (27.91%)
- Gene (25.58%)
What were the highlights of his more recent work (between 2007-2015)?
- Genetics (58.14%)
- Hereditary neuralgic amyotrophy (27.91%)
- Haplotype (16.28%)
In recent papers he was focusing on the following fields of study:
The scientist’s investigation covers issues in Genetics, Hereditary neuralgic amyotrophy, Haplotype, Gene and Gene duplication.
His Genetics study frequently draws connections between related disciplines such as Bioinformatics.
In his study, Founder effect, Pedigree chart, Microsatellite and Genotyping is strongly linked to Mutation, which falls under the umbrella field of Haplotype.
Phillip F. Chance incorporates Gene and Lysosome in his research.
Phillip F. Chance has included themes like Breakpoint and Exon in his Gene duplication study.
His research on Ciliopathy also deals with topics like
- Cystic kidney disease together with RPGRIP1L,
- Carrier testing together with Genetic heterogeneity.
Between 2007 and 2015, his most popular works were:
- CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290 (176 citations)
- Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity (120 citations)
- Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) (91 citations)
In his most recent research, the most cited papers focused on:
His scientific interests lie mostly in Genetics, TMEM67, Joubert syndrome, Hereditary neuralgic amyotrophy and Ciliopathy.
His work on Genetics deals in particular with Missense mutation, Mutation, Pedigree chart, Microsatellite and Genotyping.
His biological study spans a wide range of topics, including Coloboma, Polydactyly, RPGRIP1L, Hypotonia and Genetic heterogeneity.
His work carried out in the field of RPGRIP1L brings together such families of science as Meckel-Gruber Syndrome, Ataxia, Internal medicine and Pediatrics.
His research in Joubert syndrome intersects with topics in Endocrinology, CC2D2A and Bioinformatics.
His Ciliopathy study combines topics from a wide range of disciplines, such as Carrier testing, Cilium, Ciliopathies and Cystic kidney disease.
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