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
Genetics and Molecular Biology D-index 52 Citations 9,090 225 World Ranking 3484 National Ranking 2

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

The scientist’s investigation covers issues in Genetics, Gene, Mutation, Consanguinity and Missense mutation. His Genetics study frequently involves adjacent topics like Hearing loss. His Mutation research incorporates elements of Stop codon, Wnt signaling pathway, Infertility, Ionotropic glutamate receptor and Allele.

The study incorporates disciplines such as Beta thalassemia, Intellectual disability, Molecular biology, Male infertility and Candidate gene in addition to Consanguinity. His Missense mutation study combines topics from a wide range of disciplines, such as Coronary artery disease, Hair cell, LRP6 and Frameshift mutation. His Disease gene identification study combines topics in areas such as Genetic heterogeneity and Microcephaly.

His most cited work include:

  • Deep sequencing reveals 50 novel genes for recessive cognitive disorders (639 citations)
  • LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors (485 citations)
  • Epigenetically Deregulated microRNA-375 Is Involved in a Positive Feedback Loop with Estrogen Receptor α in Breast Cancer Cells (221 citations)

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

Hossein Najmabadi mainly focuses on Genetics, Gene, Mutation, Hearing loss and Allele. His study in Exon, Genotype, Missense mutation, Locus and Phenotype is carried out as part of his studies in Genetics. His Gene study often links to related topics such as Molecular biology.

His work focuses on many connections between Mutation and other disciplines, such as Thalassemia, that overlap with his field of interest in Prenatal diagnosis. His Hearing loss study which covers Consanguinity that intersects with Genetic heterogeneity. His Exome sequencing research is multidisciplinary, incorporating elements of Sanger sequencing, Intellectual disability and Candidate gene.

He most often published in these fields:

  • Genetics (71.15%)
  • Gene (30.22%)
  • Mutation (16.21%)

What were the highlights of his more recent work (between 2016-2021)?

  • Genetics (71.15%)
  • Exome sequencing (10.44%)
  • Gene (30.22%)

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

His scientific interests lie mostly in Genetics, Exome sequencing, Gene, Intellectual disability and Phenotype. His Missense mutation, Mutation, Proband, Exon and Frameshift mutation study are his primary interests in Genetics. Hossein Najmabadi has included themes like Sanger sequencing, Consanguinity, Haploinsufficiency and Microcephaly in his Exome sequencing study.

His biological study spans a wide range of topics, including Thalassemia and Hearing loss. His study on Intellectual disability also encompasses disciplines like

  • Bioinformatics that connect with fields like Neurodevelopmental disorder,
  • Candidate gene together with Copy-number variation and Gene duplication. Gene family is closely connected to Disease in his research, which is encompassed under the umbrella topic of Phenotype.

Between 2016 and 2021, his most popular works were:

  • Genetics of intellectual disability in consanguineous families (57 citations)
  • Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping. (40 citations)
  • Iranome: A catalog of genomic variations in the Iranian population. (38 citations)

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

  • Gene
  • Mutation
  • Genetics

Hossein Najmabadi mainly investigates Genetics, Exome sequencing, Gene, Intellectual disability and Missense mutation. All of his Genetics and Microcephaly, Exon, Mutation, Proband and Phenotype investigations are sub-components of the entire Genetics study. His work carried out in the field of Exome sequencing brings together such families of science as Iranian population, Genome project, Human genome and Variome.

His Gene study frequently draws parallels with other fields, such as Hearing loss. His Intellectual disability research is multidisciplinary, incorporating perspectives in Candidate gene, Consanguinity, Parental consanguinity, De novo mutations and Epilepsy. The various areas that he examines in his Missense mutation study include Compound heterozygosity, Frameshift mutation, X chromosome, Lujan–Fryns syndrome and Genetic architecture.

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

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi;Hao Hu;Masoud Garshasbi;Tomasz Zemojtel.
Nature (2011)

745 Citations

LRP6 Mutation in a Family with Early Coronary Disease and Metabolic Risk Factors

Arya Mani;Jayaram Radhakrishnan;He Wang;Alaleh Mani.
Science (2007)

600 Citations

Thalassemia in Iran: epidemiology, prevention, and management.

Hassan Abolghasemi;Ali Amid;Sirous Zeinali;Mohammad H. Radfar.
Journal of Pediatric Hematology Oncology (2007)

303 Citations

Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy.

H Najmabadi;V Huang;P Yen;M N Subbarao.
The Journal of Clinical Endocrinology and Metabolism (1996)

289 Citations

Epigenetically Deregulated microRNA-375 Is Involved in a Positive Feedback Loop with Estrogen Receptor α in Breast Cancer Cells

Pedro de Souza Rocha Simonini;Pedro de Souza Rocha Simonini;Achim Breiling;Nibedita Gupta;Mahdi Malekpour.
Cancer Research (2010)

281 Citations

The beta-thalassemia mutation spectrum in the Iranian population.

Hossein Najmabadi;Roxana Karimi-Nejad;Solmaz Sahebjam;Farzin Pourfarzad.
Hemoglobin (2001)

245 Citations

Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein

Matthew R. Avenarius;Michael S. Hildebrand;Yuzhou Zhang;Nicole C. Meyer.
American Journal of Human Genetics (2009)

210 Citations

Mutations in NSUN2 cause autosomal-recessive intellectual disability

Lia Abbasi-Moheb;Sara Mertel;Melanie Gonsior;Leyla Nouri-Vahid.
American Journal of Human Genetics (2012)

199 Citations

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.

Mohammad Mahdi Motazacker;Benjamin Rainer Rost;Tim Hucho;Masoud Garshasbi.
American Journal of Human Genetics (2007)

194 Citations

A Forward Genetics Screen in Mice Identifies Recessive Deafness Traits and Reveals That Pejvakin Is Essential for Outer Hair Cell Function

Martin Schwander;Anna Sczaniecka;Nicolas Grillet;Janice S. Bailey.
The Journal of Neuroscience (2007)

168 Citations

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