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Bassem Bejjani

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Oligonucleotide Array Sequence Analysis

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Nucleic Acid Hybridization

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Genes & Molecular Sequences

Physiology

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Publications

TOP 3
Byerly Steve; Sundin Kyle; Raja Rajiv; Stanchfield Jim; Bejjani Bassem A; Shaffer Lisa G
Effects of ozone exposure during microarray posthybridization washes and scanning.
Graham John M; Kramer Nancy; Bejjani Bassem A; Thiel Christian T; Carta Claudio; Neri Giovanni; Tartaglia Marco; Zenker Martin
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.
Shaffer Lisa G; Bejjani Bassem A
Using microarray-based molecular cytogenetic methods to identify chromosome abnormalities.

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All Publications

2009: Byerly Steve; Sundin Kyle; Raja Rajiv; Stanchfield Jim; Bejjani Bassem A; Shaffer Lisa G
Effects of ozone exposure during microarray posthybridization washes and scanning.
The Journal of molecular diagnostics : JMD 2009;11(6):590-7.
2009: Graham John M; Kramer Nancy; Bejjani Bassem A; Thiel Christian T; Carta Claudio; Neri Giovanni; Tartaglia Marco; Zenker Martin
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.
American journal of medical genetics. Part A 2009;149A(10):2122-8.
2009: Shaffer Lisa G; Bejjani Bassem A
Using microarray-based molecular cytogenetic methods to identify chromosome abnormalities.
Pediatric annals 2009;38(8):440-7.
2009: Adams Sara Anne; Coppinger Justine; Saitta Sulagna C; Stroud Tracy; Kandamurugu Manikum; Fan Zheng; Ballif Blake C; Shaffer Lisa G; Bejjani Bassem A
Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(5):314-22.
2009: Theisen Aaron; Rosenfeld Jill A; Farrell Sandra A; Harris Catharine J; Wetzel Heather H; Torchia Beth A; Bejjani Bassem A; Ballif Blake C; Shaffer Lisa G
aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
American journal of medical genetics. Part A 2009;149A(5):914-8.
2009: Coppinger Justine; McDonald-McGinn Donna; Zackai Elaine; Shane Kate; Atkin Joan F; Asamoah Alexander; Leland Robert; Weaver David D; Lansky-Shafer Susan; Schmidt Karen; Feldman Heidi; Cohen William; Phalin Judy; Powell Berkley; Ballif Blake C; Theisen Aaron; Geiger Elizabeth; Haldeman-Englert Chad; Shaikh Tamim H; Saitta Sulagna; Bejjani Bassem A; Shaffer Lisa G
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Human molecular genetics 2009;18(8):1377-83.
2009: Gajecka Marzena; Radhakrishna Uppala; Winters Daniel; Nath Swapan K; Rydzanicz Malgorzata; Ratnamala Uppala; Ewing Kimberly; Molinari Andrea; Pitarque Jose A; Lee Kwanghyuk; Leal Suzanne M; Bejjani Bassem A
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
Investigative ophthalmology & visual science 2009;50(4):1531-9.
2009: Haj Roland; Jackson Kelly; Torchia Beth A; Shaffer Lisa G; Bejjani Bassem A; Gowans Gordon C; Ruff Michael W
Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report.
Molecular Cytogenetics 2009;2():2.
2008: Shah Prakesh S; Murthy Prashanth; Skidmore David; Shaffer Lisa G; Bejjani Bassem A; Chitayat David
Williams syndrome in a preterm infant with phenotype of Alagille syndrome.
American journal of medical genetics. Part A 2008;146A(18):2407-11.
2008: Shaffer Lisa G; Coppinger Justine; Alliman Sarah; Torchia Beth A; Theisen Aaron; Ballif Blake C; Bejjani Bassem A
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.
Prenatal diagnosis 2008;28(9):789-95.
2008: Meghpara Beeran; Li Xin; Nakamura Hiroshi; Khan Ahsan; Bejjani Bassem A; Lin Shan; Edward Deepak P
Human anterior chamber angle development without cell death or macrophage involvement.
Molecular vision 2008;14():2492-8.
2008: Bejjani Bassem A; Shaffer Lisa G
Clinical utility of contemporary molecular cytogenetics.
Annual review of genomics and human genetics 2008;9():71-86.
2008: Ballif Blake C; Theisen Aaron; Coppinger Justine; Gowans Gordon C; Hersh Joseph H; Madan-Khetarpal Suneeta; Schmidt Karen R; Tervo Raymond; Escobar Luis F; Friedrich Christopher A; McDonald Marie; Campbell Lindsey; Ming Jeffrey E; Zackai Elaine H; Bejjani Bassem A; Shaffer Lisa G
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
Molecular Cytogenetics 2008;1(1):8.
2007: Shaffer Lisa G; Bejjani Bassem A; Torchia Beth; Kirkpatrick Susan; Coppinger Justine; Ballif Blake C
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future.
American journal of medical genetics. Part C, Seminars in medical genetics 2007;145C(4):335-45.
2007: Shaffer Lisa G; Theisen Aaron; Bejjani Bassem A; Ballif Blake C; Aylsworth Arthur S; Lim Cynthia; McDonald Marie; Ellison Jay W; Kostiner Dana; Saitta Sulagna; Shaikh Tamim
The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(9):607-16.
2007: Ballif Blake C; Hornor Sara A; Jenkins Elizabeth; Madan-Khetarpal Suneeta; Surti Urvashi; Jackson Kelly E; Asamoah Alexander; Brock Pamela L; Gowans Gordon C; Conway Robert L; Graham John M; Medne Livija; Zackai Elaine H; Shaikh Tamim H; Geoghegan Joel; Selzer Rebecca R; Eis Peggy S; Bejjani Bassem A; Shaffer Lisa G
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Nature genetics 2007;39(9):1071-3.
2007: Ballif Blake C; Sulpizio Scott G; Lloyd Richard M; Minier Sara L; Theisen Aaron; Bejjani Bassem A; Shaffer Lisa G
The clinical utility of enhanced subtelomeric coverage in array CGH.
American journal of medical genetics. Part A 2007;143A(16):1850-7.
2007: Putcha Girish V; Bejjani Bassem A; Bleoo Stacey; Booker Jessica K; Carey John C; Carson Nancy; Das Soma; Dempsey Melissa A; Gastier-Foster Julie M; Greinwald John H; Hoffmann Marcy L; Jeng Linda Jo Bone; Kenna Margaret A; Khababa Ishrag; Lilley Margaret; Mao Rong; Muralidharan Kasinathan; Otani Iris M; Rehm Heidi L; Schaefer Fred; Seltzer William K; Spector Elaine B; Springer Michelle A; Weck Karen E; Wenstrup Richard J; Withrow Stacey; Wu Bai-Lin; Zariwala Maimoona A; Schrijver Iris
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(7):413-26.
2007: Christensen Todd M; Jama Mohamed; Ponek Victor; Lyon Elaine; Wilson Jean Amos; Hoffmann Marcy L; Bejjani Bassem A
Design, development, validation, and use of synthetic nucleic acid controls for diagnostic purposes and application to cystic fibrosis testing.
The Journal of molecular diagnostics : JMD 2007;9(3):315-9.
2007: Ballif Blake C; Hornor Sara A; Sulpizio Scott G; Lloyd Richard M; Minier Sara L; Rorem Emily A; Theisen Aaron; Bejjani Bassem A; Shaffer Lisa G
Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(3):150-62.
2007: Frajdenberg Agata; Pecold Krystyna; Podfigurna-Musielak Monika; Rydzanicz Malgorzata; Mrugacz Malgorzata; Leal Suzanne M; Bejjani Bassem A; Gajecka Marzena
[An analysis of the fundus changes in families with high myopia]
Klinika oczna 2007;109(4-6):173-5.
2006: Ballif Blake C; Rorem Emily A; Sundin Kyle; Lincicum Matt; Gaskin Shannon; Coppinger Justine; Kashork Catherine D; Shaffer Lisa G; Bejjani Bassem A
Detection of low-level mosaicism by array CGH in routine diagnostic specimens.
American journal of medical genetics. Part A 2006;140(24):2757-67.
2006: Bejjani Bassem A; Shaffer Lisa G
Application of array-based comparative genomic hybridization to clinical diagnostics.
The Journal of molecular diagnostics : JMD 2006;8(5):528-33.
2006: Baris Hagit; Bejjani Bassem A; Tan Wen-Hann; Coulter David L; Martin Judith A; Storm Andrea L; Burton Barbara K; Saitta Sulagna C; Gajecka Marzena; Ballif Blake C; Irons Mira B; Shaffer Lisa G; Kimonis Virginia E
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
American journal of medical genetics. Part A 2006;140A(17):1876-9.
2006: Shaffer Lisa G; Kashork Catherine D; Saleki Reza; Rorem Emily; Sundin Kyle; Ballif Blake C; Bejjani Bassem A
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.
The Journal of pediatrics 2006;149(1):98-102.
2006: Bidinost Carla; Hernandez Natalie; Edward Deepak P; Al-Rajhi Ali; Lewis Richard Alan; Lupski James R; Stockton David W; Bejjani Bassem A
Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
Investigative ophthalmology & visual science 2006;47(4):1486-90.
2006: Bidinost Carla; Matsumoto Masayuki; Chung Daniel; Salem Nabiha; Zhang Kang; Stockton David W; Khoury Antoine; Megarbane Andre; Bejjani Bassem A; Traboulsi Elias I
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
Investigative ophthalmology & visual science 2006;47(4):1274-80.
2006: Ballif Blake C; Kashork Catherine D; Saleki Reza; Rorem Emily; Sundin Kyle; Bejjani Bassem A; Shaffer Lisa G
Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization.
Prenatal diagnosis 2006;26(4):333-9.
2006: Doshi Manali; Marcus Craig; Bejjani Bassem A; Edward Deepak P
Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes.
Experimental eye research 2006;82(1):24-32.
2006: Shaffer L G; Bejjani B A
Medical applications of array CGH and the transformation of clinical cytogenetics.
Cytogenetic and genome research 2006;115(3-4):303-9.
2006: Jarmuz Malgorzata; Ballif Blake C; Kashork Catherine D; Theisen Aaron P; Bejjani Bassem A; Shaffer Lisa G
Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance.
Methods in molecular medicine 2006;128():23-31.
2006: Kashork C D; Theisen A; Bejjani B A; Shaffer L G
Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization.
Cytogenetic and genome research 2006;114(3-4):379-83.
2006: Lalani Seema R; Sahoo Trilochan; Sanders Merideth E; Peters Sarika U; Bejjani Bassem A
Coarctation of the aorta and mild to moderate developmental delay in a child with a de novo deletion of chromosome 15(q21.1q22.2).
BMC medical genetics 2006;7():8.
2005: Bejjani Bassem A; Theisen Aaron P; Ballif Blake C; Shaffer Lisa G
Array-based comparative genomic hybridization in clinical diagnosis.
Expert review of molecular diagnostics 2005;5(3):421-9.
2005: Bejjani Bassem A; Saleki Reza; Ballif Blake C; Rorem Emily A; Sundin Kyle; Theisen Aaron; Kashork Catherine D; Shaffer Lisa G
Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?
American journal of medical genetics. Part A 2005;134(3):259-67.
2004: Edward Deepak; Al Rajhi Ali; Lewis Richard Alan; Curry Stacey; Wang Zongren; Bejjani Bassem
Molecular basis of Peters anomaly in Saudi Arabia.
Ophthalmic genetics 2004;25(4):257-70.
2004: Sen Partha; Thakur Nivedita; Stockton David W; Langston Claire; Bejjani Bassem A
Expanding the phenotype of alveolar capillary dysplasia (ACD).
The Journal of pediatrics 2004;145(5):646-51.
2004: Shaffer Lisa G; Bejjani Bassem A
A cytogeneticist's perspective on genomic microarrays.
Human reproduction update 2004;10(3):221-6.
2004: Curry Stacey M; Daou Aline G; Hermanns Pia; Molinari Andrea; Lewis Richard Alan; Bejjani Bassem A
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.
Ophthalmic genetics 2004;25(1):3-9.
2003: Yu Wei; Ballif Blake C; Kashork Catherine D; Heilstedt Heidi A; Howard Leslie A; Cai Wei-Wen; White Lisa D; Liu Wenbin; Beaudet Arthur L; Bejjani Bassem A; Shaw Chad A; Shaffer Lisa G
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.
Human molecular genetics 2003;12(17):2145-52.
2003: Mammen Jennifer S; Pittman Gary S; Li Ying; Abou-Zahr Fadi; Bejjani Bassem A; Bell Douglas A; Strickland Paul T; Sutter Thomas R
Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol.
Carcinogenesis 2003;24(7):1247-55.
2003: Song Junghan; Wadhwa Lalita; Bejjani Bassem A; O'Brien William E
Determination of 3-keto-4-ene steroids and their hydroxylated metabolites catalyzed by recombinant human cytochrome P450 1B1 enzyme using gas chromatography-mass spectrometry with trimethylsilyl derivatization.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2003;791(1-2):127-35.
2003: McCormack W Michael; Shen Joseph J; Curry Stacey M; Berend Sue Ann; Kashork Catherine; Pinar Halit; Potocki Lorraine; Bejjani Bassem A
Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.
American journal of medical genetics. Part A 2003;118A(2):384-9.
2003: Li J; Jiang T; Bejjani B; Rajcan-Separovic E; Cai W W
High-resolution human genome scanning using whole-genome BAC arrays.
Cold Spring Harbor symposia on quantitative biology 2003;68():323-9.
2002: McCormack W Michael; Shen Joseph J; Curry Stacey M; Berend Sue Ann; Kashork Catherine; Pinar Halit; Potocki Lorraine; Bejjani Bassem A
Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.
American journal of medical genetics 2002;112(4):384-9.
2002: Bejjani Bassem A; Xu Li; Armstrong Dawna; Lupski James R; Reneker Lixing W
Expression patterns of cytochrome P4501B1 (Cyp1b1) in FVB/N mouse eyes.
Experimental eye research 2002;75(3):249-57.
2002: Berend Sue Ann; Bejjani Bassem A; McCaskill Christopher; Shaffer Lisa G
Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.
American journal of medical genetics 2002;111(4):362-5.
2002: Wu Yuan-Qing; Bejjani Bassem A; Tsui Lap-Chee; Mandel Ariane; Osborne Lucy R; Shaffer Lisa G
Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients.
American journal of medical genetics 2002;109(2):121-4.
2002: Mégarbané André; Bejjani Bassem A; Shaffer Lisa G; Jambart Sélim; Souraty Noelle; Kashork Catherine D; Le Merrer Martine
Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.
American journal of medical genetics 2002;108(1):69-74.
2000: Atkins K E; Gregg A; Spikes A S; Bacino C A; Bejjani B A; Kirkland J; Shaffer L G
Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory.
American journal of medical genetics 2000;91(5):377-82.
2000: Bejjani B A; Stockton D W; Lewis R A; Tomey K F; Dueker D K; Jabak M; Astle W F; Lupski J R
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Human molecular genetics 2000;9(3):367-74.
1999: Berend S A; Shaffer L G; Bejjani B A
Pure trisomy 10p involving an isochromosome 10p.
Clinical genetics 1999;55(5):367-71.
1999: Abou-Zahr F; Bejjani B; Kruyt F A; Kurg R; Bacino C; Shapira S K; Youssoufian H
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome.
American journal of medical genetics 1999;83(5):388-91.
1998: Bejjani B A; Oberg K C; Wilkins I; Moise A; Langston C; Superti-Furga A; Lupski J R
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1.
American journal of medical genetics 1998;79(5):392-5.
1998: Bejjani B A; Lewis R A; Tomey K F; Anderson K L; Dueker D K; Jabak M; Astle W F; Otterud B; Leppert M; Lupski J R
Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia.
American journal of human genetics 1998;62(2):325-33.
1996: Anderson K L; Lewis R A; Bejjani B A; Baird L; Otterud B; Tomey K F; Astle W F; Dueker D K; Leppert M; Lupski J R
A gene for primary congenital glaucoma is not linked to the locus on chromosome 1q for autosomal dominant juvenile-onset open angle glaucoma.
Journal of glaucoma 1996;5(6):416-21.

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Bassem Bejjani

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