2022 - Research.com Best Female Scientist Award
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.
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.
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.
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.
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22q11.2 deletion syndrome
Donna M. McDonald-McGinn;Kathleen E. Sullivan;Bruno Marino;Nicole Philip.
Nature Reviews Disease Primers (2015)
The DNA sequence of human chromosome 22
I. Dunham;N. Shimizu;B. A. Roe;S. Chissoe.
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)
Localization of gene for human p53 tumour antigen to band 17p13
M. Isobe;B. S. Emanuel;D. Givol;M. Oren.
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)
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)
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)
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)
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)
The Philadelphia story: the 22q11.2 deletion: report on 250 patients
McDonald-McGinn Dm;Kirschner R;Goldmuntz E;Sullivan K.
Genetic Counseling (1999)
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