What is he best known for?
The fields of study he is best known for:
Friedhelm Hildebrandt mainly focuses on Genetics, Cilium, Nephronophthisis, Ciliopathies and Cell biology.
His Ciliopathy, Joubert syndrome, RPGRIP1L, Mutation and Candidate gene study are his primary interests in Genetics.
His work in Cilium covers topics such as Cystic kidney disease which are related to areas like NEK8.
His studies in Nephronophthisis integrate themes in fields like Positional cloning, Cystic kidney and Cancer research.
In his research, Autosomal Recessive Polycystic Kidney Disease and Disease is intimately related to Bioinformatics, which falls under the overarching field of Ciliopathies.
His Cell biology research is multidisciplinary, incorporating perspectives in Ciliary transition zone, Endocrinology, Internal medicine and Centrosome.
His most cited work include:
- Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. (519 citations)
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition (465 citations)
- A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition (465 citations)
What are the main themes of his work throughout his whole career to date?
His primary scientific interests are in Genetics, Nephronophthisis, Mutation, Internal medicine and Pathology.
His is involved in several facets of Genetics study, as is seen by his studies on Gene, Exome sequencing, Cilium, Ciliopathy and Disease gene identification.
His Nephronophthisis research includes elements of Cystic kidney, Cystic kidney disease and Joubert syndrome.
His research in Mutation intersects with topics in Molecular biology, Allele, Gene knockdown and Exon.
His Internal medicine study combines topics in areas such as Gastroenterology, Endocrinology and Pediatrics.
His Pathology study incorporates themes from Medullary cystic kidney disease, Kidney and Kidney disease.
He most often published in these fields:
- Genetics (66.59%)
- Nephronophthisis (32.31%)
- Mutation (29.91%)
What were the highlights of his more recent work (between 2016-2021)?
- Genetics (66.59%)
- Exome sequencing (19.21%)
- Nephrotic syndrome (20.52%)
In recent papers he was focusing on the following fields of study:
His primary areas of investigation include Genetics, Exome sequencing, Nephrotic syndrome, Mutation and Phenotype.
His research on Genetics frequently links to adjacent areas such as Urinary system.
The various areas that Friedhelm Hildebrandt examines in his Exome sequencing study include Missense mutation, Etiology, Kidney disease and Candidate gene.
His research on Nephrotic syndrome also deals with topics like
- Pediatrics most often made with reference to Steroid-resistant nephrotic syndrome,
- Focal segmental glomerulosclerosis which connect with Podocyte.
Friedhelm Hildebrandt works mostly in the field of Phenotype, limiting it down to topics relating to Cilium and, in certain cases, Late onset, Cholangiocyte, Hedgehog signaling pathway, Basal body and Ciliopathies, as a part of the same area of interest.
Friedhelm Hildebrandt combines subjects such as Cystic kidney disease, Joubert syndrome and Ciliogenesis with his study of Ciliopathy.
Between 2016 and 2021, his most popular works were:
- Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency (89 citations)
- Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. (82 citations)
- Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome (74 citations)
In his most recent research, the most cited papers focused on:
Friedhelm Hildebrandt mainly focuses on Genetics, Mutation, Exome sequencing, Urinary system and Internal medicine.
His research on Genetics often connects related topics like Pathogenesis.
His Mutation research integrates issues from Phenotype, Galloway Mowat syndrome, Microcephaly, Genotype and Renal tubular dysfunction.
His work carried out in the field of Exome sequencing brings together such families of science as Candidate gene, Phenocopy, Kidney disease and Etiology.
The Kidney disease study combines topics in areas such as Precision medicine and Nephronophthisis.
As a part of the same scientific study, Friedhelm Hildebrandt usually deals with the Internal medicine, concentrating on Endocrinology and frequently concerns with Immunodeficiency.
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