D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Biology and Biochemistry D-index 64 Citations 13,717 157 World Ranking 4209 National Ranking 98

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Mutation
  • Internal medicine

Her primary areas of study are Genetics, Endocrinology, Internal medicine, Gene and Mutation. Her research investigates the connection between Endocrinology and topics such as Hypomagnesemia that intersect with issues in Tetany. Her Internal medicine research includes themes of Positional cloning and Aquaporin 2.

Nine V A M Knoers combines subjects such as Pregnancy, Hypospadias and Gynecology with her study of Gene. Her work deals with themes such as Genetic heterogeneity and Locus heterogeneity, which intersect with Mutation. Her Nephrogenic diabetes insipidus research incorporates themes from Arginine vasopressin receptor 2 and Point mutation.

Her most cited work include:

  • Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. (736 citations)
  • Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR (451 citations)
  • Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities (417 citations)

What are the main themes of her work throughout her whole career to date?

Her primary areas of investigation include Internal medicine, Genetics, Endocrinology, Nephrogenic diabetes insipidus and Gene. Her work carried out in the field of Internal medicine brings together such families of science as Hypocalciuria and Hypomagnesemia. All of her Genetics and Mutation, Phenotype, Exon, Missense mutation and Genetic heterogeneity investigations are sub-components of the entire Genetics study.

Endocrinology and Vasopressin receptor are frequently intertwined in her study. Her Nephrogenic diabetes insipidus study combines topics from a wide range of disciplines, such as Arginine vasopressin receptor 2 and Aquaporin 2. Her Kidney disease study combines topics in areas such as Pediatrics and Intensive care medicine.

She most often published in these fields:

  • Internal medicine (31.56%)
  • Genetics (31.84%)
  • Endocrinology (24.86%)

What were the highlights of her more recent work (between 2014-2021)?

  • Genetics (31.84%)
  • Pediatrics (11.73%)
  • Kidney disease (10.06%)

In recent papers she was focusing on the following fields of study:

Nine V A M Knoers focuses on Genetics, Pediatrics, Kidney disease, Genetic testing and Internal medicine. Phenotype, Gene, Molecular genetics, Candidate gene and Sanger sequencing are subfields of Genetics in which her conducts study. Nine V A M Knoers has included themes like Age of onset, Dravet syndrome, Epilepsy and Retrospective cohort study in her Pediatrics study.

Nine V A M Knoers interconnects Pregnancy, Kidney and Intensive care medicine in the investigation of issues within Kidney disease. Her biological study spans a wide range of topics, including Disease and End stage renal disease. Her Internal medicine research is multidisciplinary, incorporating perspectives in Endocrinology, Nephronophthisis and Hypomagnesemia.

Between 2014 and 2021, her most popular works were:

  • Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. (219 citations)
  • Genetic, environmental, and epigenetic factors involved in CAKUT (118 citations)
  • Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability (103 citations)

In her most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Internal medicine

Genetics, Pediatrics, Internal medicine, Genetic testing and Disease are her primary areas of study. The Pediatrics study combines topics in areas such as Age of onset, Dravet syndrome, Epilepsy and Encephalopathy. Her studies in Internal medicine integrate themes in fields like Diabetes mellitus, Endocrinology, Mutation and Hypomagnesemia.

Her Endocrinology study incorporates themes from Pregnancy, Case-control study and Etiology. Her Genetic testing research is multidisciplinary, relying on both Juvenile nephronophthisis, Nephronophthisis, Cystic kidney, End stage renal disease and Transplantation. Her work in Disease addresses subjects such as Intensive care medicine, which are connected to disciplines such as Ciliopathies, Non invasive and Adult patients.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.

P. M. T. Deen;M. A. J. Verdijk;N. V. A. M. Knoers;B. Wieringa.
Science (1994)

997 Citations

Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR

Frans P. M. Cremers;Dorien J. R. van de Pol;Marc van Driel;Anneke I. den Hollander.
Human Molecular Genetics (1998)

558 Citations

Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

Lisenka E.L.M. Vissers;Bert B.A. de Vries;Kazutoyo Osoegawa;Irene M. Janssen.
American Journal of Human Genetics (2003)

513 Citations

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

Ralf Birkenhäger;Edgar Otto;Maria J. Schürmann;Martin Vollmer.
Nature Genetics (2001)

487 Citations

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

David A. Koolen;Lisenka E.L.M. Vissers;Rolph Pfundt;Nicole De Leeuw.
Nature Genetics (2006)

440 Citations

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood.
Nature (2011)

402 Citations

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Heleen H Arts;Dan Doherty;Sylvia E C van Beersum;Melissa A Parisi.
Nature Genetics (2007)

370 Citations

Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia

Wouter M. Tiel Groenestege;Stéphanie Thébault;Jenny van der Wijst;Dennis van den Berg.
Journal of Clinical Investigation (2007)

344 Citations

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

J.I. Friedman;T. Vrijenhoek;S. Markx;I.M. Janssen.
Molecular Psychiatry (2008)

323 Citations

Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.

I C Meij;J B Koenderink;H van Bokhoven;K F Assink.
Nature Genetics (2000)

318 Citations

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