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 55 Citations 11,056 108 World Ranking 3045 National Ranking 1459

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

Ankita Patel focuses on Genetics, Comparative genomic hybridization, Gene duplication, Chromosome and Copy-number variation. Ankita Patel conducts interdisciplinary study in the fields of Genetics and Non-allelic homologous recombination through his research. His Comparative genomic hybridization study integrates concerns from other disciplines, such as Fluorescence in situ hybridization, Clinical significance and Cytogenetics.

His Gene duplication study incorporates themes from MECP2 duplication syndrome, Microcephaly and Macrocephaly. His Chromosome research is multidisciplinary, relying on both Haploinsufficiency, DNA repair and DNA replication. In his study, Prenatal diagnosis, Pathology, Chorionic villi, Amniotic fluid and Virtual karyotype is inextricably linked to Genetic counseling, which falls within the broad field of Copy-number variation.

His most cited work include:

  • Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing (861 citations)
  • Chromosomal microarray versus karyotyping for prenatal diagnosis (650 citations)
  • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities (467 citations)

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

His main research concerns Genetics, Comparative genomic hybridization, Copy-number variation, Gene duplication and Chromosome. In his articles, he combines various disciplines, including Genetics and Non-allelic homologous recombination. His Comparative genomic hybridization research incorporates themes from Aneuploidy, Human genome, Karyotype, Chromosomal translocation and Molecular biology.

His study on Copy-number variation also encompasses disciplines like

  • Prenatal diagnosis and Genetic testing most often made with reference to Genetic counseling,
  • Bioinformatics together with Medical genetics. As a part of the same scientific study, Ankita Patel usually deals with the Gene duplication, concentrating on Microarray and frequently concerns with Microarray analysis techniques and DNA microarray. The various areas that Ankita Patel examines in his Chromosome study include DiGeorge syndrome and X chromosome.

He most often published in these fields:

  • Genetics (65.06%)
  • Comparative genomic hybridization (33.73%)
  • Copy-number variation (24.10%)

What were the highlights of his more recent work (between 2015-2021)?

  • Genetics (65.06%)
  • Copy-number variation (24.10%)
  • Comparative genomic hybridization (33.73%)

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

His primary areas of investigation include Genetics, Copy-number variation, Comparative genomic hybridization, Microarray and Computational biology. His work in Protein subunit, Proteasome, Neurodevelopmental disorder, PSMD12 and Intellectual disability are all subfields of Genetics research. His study explores the link between Copy-number variation and topics such as Genomics that cross with problems in MEDLINE.

His Comparative genomic hybridization research integrates issues from Structural variation, Cohen syndrome, VPS13B and Copy number analysis. His Microarray research includes themes of PORCN, Phenotype, Prenatal diagnosis, DNA microarray and Obstructive sleep apnea. His Computational biology research includes themes of SNP, Single-nucleotide polymorphism and Exon.

Between 2015 and 2021, his most popular works were:

  • Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). (127 citations)
  • An Organismal CNV Mutator Phenotype Restricted to Early Human Development (46 citations)
  • Mechanisms for Complex Chromosomal Insertions. (30 citations)

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

  • Gene
  • Mutation
  • Genetics

Ankita Patel mainly investigates Genetics, Copy-number variation, Pathology, Breakpoint and Microarray. His Genetics study is mostly concerned with DNA sequencing, Comparative genomic hybridization, Fluorescence in situ hybridization, Locus and Chromosomal inversion. Ankita Patel combines subjects such as Medical genetics, MEDLINE and Genomics with his study of Copy-number variation.

His Pathology study combines topics in areas such as Phenotype, Chromosomal Deletion, Medical history and PORCN. His Breakpoint study integrates concerns from other disciplines, such as Gene duplication, Germline, Chromosome instability and Point mutation. His Microarray research includes elements of Molecular cytogenetics, Intellectual disability, DNA microarray, Autism and Disease.

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

Chromosomal microarray versus karyotyping for prenatal diagnosis

Ronald J. Wapner;Christa Lese Martin;Brynn Levy;Blake C. Ballif.
The New England Journal of Medicine (2012)

1030 Citations

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang;Donna M. Muzny;Fan Xia;Zhiyv Niu.
JAMA (2014)

1000 Citations

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Nicola Brunetti-Pierri;Jonathan S. Berg;Fernando Scaglia;John Belmont.
Nature Genetics (2008)

554 Citations

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Marwan Shinawi;Pengfei Liu;Sung Hae L Kang;Joseph Shen.
Journal of Medical Genetics (2010)

492 Citations

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Pengfei Liu;Ayelet Erez;Sandesh C.Sreenath Nagamani;Shweta U. Dhar.
Cell (2011)

383 Citations

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

Paweł Stankiewicz;Partha Sen;Samarth S. Bhatt;Mekayla Storer.
American Journal of Human Genetics (2009)

330 Citations

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

Xiaoling Wang;V Reid Sutton;J Omar Peraza-Llanes;Zhiyin Yu.
Nature Genetics (2007)

284 Citations

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

Kihoon Han;Kihoon Han;J. Lloyd Holder;J. Lloyd Holder;Christian P. Schaaf;Christian P. Schaaf;Hui Lu;Hui Lu.
Nature (2013)

281 Citations

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

Sau W Cheung;Chad A Shaw;Wei Yu;Jiangzham Li.
Genetics in Medicine (2005)

280 Citations

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Daniela del Gaudio;Ping Fang;Fernando Scaglia;Patricia A Ward.
Genetics in Medicine (2006)

269 Citations

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