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 D-index 48 Citations 6,625 116 World Ranking 3306 National Ranking 7

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

His primary areas of study are Genetics, Exome sequencing, Candidate gene, Phenotype and Frameshift mutation. His research in Mutation, Consanguinity, Microcephaly, Genetic heterogeneity and Exome are components of Genetics. As a part of the same scientific study, Ranad Shaheen usually deals with the Mutation, concentrating on Sequence analysis and frequently concerns with Bacillus cereus, Cereulide and Cereus.

His Candidate gene research is multidisciplinary, incorporating elements of Genome and Locus. His Phenotype research includes elements of GTPase, Disease and Dock6. His Frameshift mutation research focuses on Missense mutation and how it connects with FRAS1 and Nemaline myopathy.

His most cited work include:

  • Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. (247 citations)
  • Identification and Partial Characterization of the Nonribosomal Peptide Synthetase Gene Responsible for Cereulide Production in Emetic Bacillus cereus (201 citations)
  • Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly (158 citations)

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

His main research concerns Genetics, Exome sequencing, Phenotype, Genetic heterogeneity and Exome. Mutation, Microcephaly, Missense mutation, Ciliopathy and Gene are subfields of Genetics in which his conducts study. His Exome sequencing study integrates concerns from other disciplines, such as Retinal Dystrophies, Arthrogryposis, Locus heterogeneity, Disease and Mendelian inheritance.

His research in Phenotype focuses on subjects like Genotype, which are connected to Peroxisomal disorder. Ranad Shaheen usually deals with Genetic heterogeneity and limits it to topics linked to Human genetics and Dwarfism. His biological study spans a wide range of topics, including Consanguinity, Genomics, Allele and Candidate gene.

He most often published in these fields:

  • Genetics (78.90%)
  • Exome sequencing (28.44%)
  • Phenotype (24.77%)

What were the highlights of his more recent work (between 2017-2021)?

  • Genetics (78.90%)
  • Exome sequencing (28.44%)
  • Phenotype (24.77%)

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

Ranad Shaheen focuses on Genetics, Exome sequencing, Phenotype, Cilium and Ciliopathies. Allele, Exome, Locus heterogeneity, Mendelian inheritance and Microcephaly are the core of his Genetics study. His work carried out in the field of Exome sequencing brings together such families of science as Dwarfism, Genotype, Short stature, Postnatal microcephaly and Human genetics.

His Phenotype research is multidisciplinary, incorporating perspectives in Immunocytochemistry, Sonic hedgehog, Cyclopia, Embryo and Candidate gene. His study looks at the relationship between Cilium and topics such as Ciliopathy, which overlap with Joubert syndrome. The concepts of his Ciliopathies study are interwoven with issues in Genetic heterogeneity and Intraflagellar transport.

Between 2017 and 2021, his most popular works were:

  • Molecular autopsy in maternal–fetal medicine (42 citations)
  • Autozygome and high throughput confirmation of disease genes candidacy. (40 citations)
  • Genomic and phenotypic delineation of congenital microcephaly. (31 citations)

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

  • Gene
  • Mutation
  • Genetics

His primary scientific interests are in Genetics, Exome sequencing, Mendelian inheritance, Locus heterogeneity and Exome. His Prenatal diagnosis research extends to Genetics, which is thematically connected. His studies deal with areas such as Dwarfism, Primordial dwarfism, Short stature, Postnatal microcephaly and Human genetics as well as Locus heterogeneity.

Ranad Shaheen has researched Exome in several fields, including Genomics, Medical genetics, Allele and Candidate gene. His studies in Missense mutation integrate themes in fields like Intellectual disability and Frameshift mutation. His Joubert syndrome study incorporates themes from Ciliopathies, INPP5E, Mutant protein and Ciliopathy.

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

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Anas M. Alazami;Nisha Patel;Hanan E. Shamseldin;Shamsa Anazi.
Cell Reports (2015)

370 Citations

Identification and Partial Characterization of the Nonribosomal Peptide Synthetase Gene Responsible for Cereulide Production in Emetic Bacillus cereus

Monika Ehling-Schulz;Natasa Vukov;Anja Schulz;Ranad Shaheen.
Applied and Environmental Microbiology (2005)

300 Citations

Emended descriptions of Clostridium acetobutylicum and Clostridium beijerinckii, and descriptions of Clostridium saccharoperbutylacetonicum sp. nov. and Clostridium saccharobutylicum sp. nov.

Stefanie Keis;Ranad Shaheen;David T. Jones.
International Journal of Systematic and Evolutionary Microbiology (2001)

242 Citations

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin;Claire Redin;Harrison Brand;Harrison Brand;Ryan L Collins;Ryan L Collins;Tammy Kammin.
Nature Genetics (2017)

219 Citations

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Fowzan S. Alkuraya;Xuyu Cai;Xuyu Cai;Carina Emery;Ganeshwaran H. Mochida;Ganeshwaran H. Mochida.
American Journal of Human Genetics (2011)

219 Citations

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

S Anazi;S Maddirevula;E Faqeih;H Alsedairy.
Molecular Psychiatry (2017)

177 Citations

Novel CENPJ mutation causes Seckel syndrome

Mohammed S Al-Dosari;Ranad Shaheen;Dilek Colak;Fowzan S Alkuraya.
Journal of Medical Genetics (2010)

175 Citations

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

Ranad Shaheen;Eissa Faqeih;Asma Sunker;Heba Morsy.
American Journal of Human Genetics (2011)

157 Citations

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Vandana A. Gupta;Gianina Ravenscroft;Ranad Shaheen;Emily J. Todd.
American Journal of Human Genetics (2013)

153 Citations

Genomic analysis of primordial dwarfism reveals novel disease genes

Ranad Shaheen;Eissa Faqeih;Shinu Ansari;Ghada Abdel-Salam.
Genome Research (2014)

148 Citations

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