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Bassem A. Bejjani

Bassem A. Bejjani

D-Index & Metrics

Genetics

D-Index
48
Citations
8573
World Ranking
4060
National Ranking
1751

Overview

Bassem A. Bejjani is affiliated with Metis Genetics in the United States and has contributed to research primarily in the fields of Biochemistry, Genetics, and Molecular Biology, as well as Medicine. Their work explores genetics with a focus on specialized topics including BRCA gene mutations in cancer, genomics and rare diseases, and research related to SARS-CoV-2 and COVID-19.

Bejjani's recent published work includes a paper titled COVID-19 and the adaptive evolution of genetic counseling, published in 2022 in the Journal of Genetic Counseling. This work intersects infectious diseases and genetic counseling in the context of the COVID-19 pandemic.

The scientist has collaborated with several coauthors over the course of their research. Frequent collaborators include:

  • Nathan C. Hassel
  • Adel D. Gilbert

The primary publication venue for Bejjani's research is the Journal of Genetic Counseling, indicating a focused contribution to this area of the genetics and counseling research community. The publication also reflects the application of genetics in clinical and counseling settings.

Main topics covered in Bejjani's research are:

  • BRCA gene mutations in cancer
  • Genomics and Rare Diseases
  • SARS-CoV-2 and COVID-19 Research

Within their broader fields of study, the subfields of Genetics and Infectious Diseases are evident in Bejjani's portfolio, showing an integration of molecular genetics with contemporary public health concerns.

Best Publications

  • 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

  • Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.

    Bassem A. Bejjani;Richard Alan Lewis;Karim F. Tomey;Kent L. Anderson

  • Detection of low-level mosaicism by array CGH in routine diagnostic specimens.

    Blake C. Ballif;Emily A. Rorem;Kyle Sundin;Matt Lincicum

  • Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

    Angela L Duker;Blake C Ballif;Erawati V Bawle;Richard E Person

  • Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.

    Blake C Ballif;Aaron Theisen;Justine Coppinger;Gordon C Gowans

  • Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus

    Bassem A. Bejjani;David W. Stockton;Richard Alan Lewis;Karim F. Tomey

  • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases

    Lisa G. Shaffer;Catherine D. Kashork;Reza Saleki;Emily Rorem

  • Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

    Bassem A. Bejjani;Reza Saleki;Blake C. Ballif;Emily A. Rorem

  • The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future†

    Lisa G. Shaffer;Bassem A. Bejjani;Beth Torchia;Susan Kirkpatrick

  • Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

    Blake C Ballif;Sara A Hornor;Elizabeth Jenkins;Suneeta Madan-Khetarpal

  • Application of array-based comparative genomic hybridization to clinical diagnostics.

    Bassem A. Bejjani;Lisa G. Shaffer

  • Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

    Wei Yu;Blake C. Ballif;Catherine D. Kashork;Heidi A. Heilstedt

  • Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

    Jill A. Rosenfeld;Justine Coppinger;Bassem A. Bejjani;Santhosh Girirajan

  • Expanding the phenotype of alveolar capillary dysplasia (ACD).

    Partha Sen;Nivedita Thakur;David W. Stockton;Claire Langston

  • The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

    Lisa G Shaffer;Aaron Theisen;Bassem A Bejjani;Bassem A Bejjani;Blake C Ballif

  • A cytogeneticist’s perspective on genomic microarrays

    Lisa G. Shaffer;Bassem A. Bejjani

  • Comparison of Microarray-Based Detection Rates for Cytogenetic Abnormalities in Prenatal and Neonatal Specimens

    Lisa G. Shaffer;Justine Coppinger;Sarah Alliman;Beth A. Torchia

  • A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

    Girish V. Putcha;Bassem A. Bejjani;Stacey Bleoo;Jessica K. Booker

  • Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.

    Justine Coppinger;Sarah Alliman;Allen N. Lamb;Beth S. Torchia

  • High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

    Blake C. Ballif;Jill A. Rosenfeld;Ryan Traylor;Aaron Theisen

Frequent Co-Authors

Lisa G. Shaffer
Lisa G. Shaffer Paw Print Genetics
Blake C. Ballif
Blake C. Ballif Paw Print Genetics
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
Trilochan Sahoo
Trilochan Sahoo Baylor College of Medicine
James R. Lupski
James R. Lupski Baylor College of Medicine
Pawel Stankiewicz
Pawel Stankiewicz Baylor College of Medicine
Richard A. Lewis
Richard A. Lewis Baylor College of Medicine
Ankita Patel
Ankita Patel Baylor College of Medicine
Nigel P. Carter
Nigel P. Carter Wellcome Sanger Institute
Elaine H. Zackai
Elaine H. Zackai Children's Hospital of Philadelphia

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