D-Index & Metrics Best Publications
Research.com 2022 Best Female Scientist Award Badge

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
Best female scientists D-index 104 Citations 37,890 433 World Ranking 754 National Ranking 467
Medicine D-index 97 Citations 31,928 415 World Ranking 5645 National Ranking 3122
Genetics D-index 97 Citations 31,558 394 World Ranking 531 National Ranking 276

Research.com Recognitions

Awards & Achievements

2022 - Research.com Best Female Scientist Award

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Genetics
  • Mutation

Beverly S. Emanuel spends much of her time researching Genetics, DiGeorge syndrome, Chromosomal translocation, Molecular biology and Chromosome 22. Her studies in Karyotype, Chromosome, Fluorescence in situ hybridization, Locus and Low copy repeats are all subfields of Genetics research. Beverly S. Emanuel has included themes like Chromosomal region, Immunopathology, Microdeletion syndrome, TBX1 and Pediatrics in her DiGeorge syndrome study.

Her Chromosomal translocation study combines topics from a wide range of disciplines, such as Gene rearrangement, Intron and Exon. Her work deals with themes such as DNA, Gene, Chromosome 17, Gene mapping and Chromosome 7, which intersect with Molecular biology. Her studies in Chromosome 22 integrate themes in fields like Copy-number variation, Chromosome 21, Monosomy, Allele and Comparative genomic hybridization.

Her most cited work include:

  • 22q11.2 deletion syndrome (1531 citations)
  • The DNA sequence of human chromosome 22 (980 citations)
  • Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma. (754 citations)

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

Beverly S. Emanuel focuses on Genetics, DiGeorge syndrome, Molecular biology, Chromosomal translocation and Gene. Her Genetics study is mostly concerned with Chromosome 22, Breakpoint, Chromosome, Gene mapping and Locus. The various areas that Beverly S. Emanuel examines in her Breakpoint study include Chromosome breakage and Palindrome.

In her study, which falls under the umbrella issue of DiGeorge syndrome, Deletion syndrome is strongly linked to Pediatrics. The Molecular biology study combines topics in areas such as In situ hybridization, Southern blot, DNA, Complementary DNA and Immunoglobulin light chain. While the research belongs to areas of Chromosomal translocation, she spends her time largely on the problem of Karyotype, intersecting her research to questions surrounding Cytogenetics and Pathology.

She most often published in these fields:

  • Genetics (77.33%)
  • DiGeorge syndrome (32.95%)
  • Molecular biology (28.57%)

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

  • Genetics (77.33%)
  • Deletion syndrome (14.67%)
  • Psychosis (11.62%)

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

Her primary scientific interests are in Genetics, Deletion syndrome, Psychosis, Schizophrenia and Clinical psychology. Her study involves Gene, Copy-number variation, Chromosome, Allele and DiGeorge syndrome, a branch of Genetics. As a part of the same scientific family, Beverly S. Emanuel mostly works in the field of Allele, focusing on Low copy repeats and, on occasion, Chromosome 22, Gene duplication, Genome and Genome instability.

She has included themes like Internal medicine, Heart disease and TBX1 in her DiGeorge syndrome study. Her research investigates the connection between Deletion syndrome and topics such as Pediatrics that intersect with problems in Neuropsychology. Her Schizophrenia study combines topics in areas such as Downregulation and upregulation, Psychopathology and Cohort.

Between 2016 and 2021, her most popular works were:

  • Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size. (73 citations)
  • Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size. (73 citations)
  • Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome (52 citations)

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

  • Gene
  • Mutation
  • DNA

Her main research concerns Psychosis, DiGeorge syndrome, Schizophrenia, Genetics and Cognition. Her biological study deals with issues like Neuroimaging, which deal with fields such as Cingulate cortex, Cortical surface and Pathology. Her DiGeorge syndrome research incorporates elements of Uncinate fasciculus, Inferior longitudinal fasciculus and Chromosome.

Her is doing research in Copy-number variation, Gene and Allele, both of which are found in Genetics. Her work investigates the relationship between Allele and topics such as Low copy repeats that intersect with problems in Genome instability, Chromosome 22 and Non-allelic homologous recombination. The Cognition study combines topics in areas such as Structured interview and Anxiety.

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

22q11.2 deletion syndrome

Donna M. McDonald-McGinn;Kathleen E. Sullivan;Bruno Marino;Nicole Philip.
Nature Reviews Disease Primers (2015)

1672 Citations

The DNA sequence of human chromosome 22

I. Dunham;N. Shimizu;B. A. Roe;S. Chissoe.
Nature (1999)

1467 Citations

Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.

N Galili;R J Davis;W J Fredericks;S Mukhopadhyay.
Nature Genetics (1993)

1026 Citations

Localization of gene for human p53 tumour antigen to band 17p13

M. Isobe;B. S. Emanuel;D. Givol;M. Oren.
Nature (1986)

710 Citations

Frequency of 22q11 deletions in patients with conotruncal defects

Elizabeth Goldmuntz;Bernard J Clark;Bernard J Clark;Laura E Mitchell;Laura E Mitchell;Abbas F Jawad;Abbas F Jawad.
Journal of the American College of Cardiology (1998)

618 Citations

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

Tamim H. Shaikh;Hiroki Kurahashi;Sulagna C. Saitta;Anna Mizrahy O’Hare.
Human Molecular Genetics (2000)

616 Citations

Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.

Frederic G. Barr;Naomi Galili;John Holick;John Holick;Jaclyn A. Biegel;Jaclyn A. Biegel.
Nature Genetics (1993)

602 Citations

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

D A Driscoll;J Salvin;B Sellinger;M L Budarf.
Journal of Medical Genetics (1993)

559 Citations

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

D A Driscoll;M L Budarf;B S Emanuel.
American Journal of Human Genetics (1992)

499 Citations

The Philadelphia story: the 22q11.2 deletion: report on 250 patients

McDonald-McGinn Dm;Kirschner R;Goldmuntz E;Sullivan K.
Genetic Counseling (1999)

486 Citations

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