FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Bassem Bejjani

Research Profile

Procedures

Devices

Oligonucleotide Array Sequence Analysis

Disorders

Phenomena

Nucleic Acid Hybridization

Physiology

Genes & Molecular Sequences

Co-author Network

Publications

TOP 3
Dorota M Nowak; Jose A Pitarque; Bassem A Bejjani; Marta Gut; Justyna A Karolak; Joanna Kubiak; Andrea Molinari; Marzena Gajecka
Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.
Ian M Campbell; Sau Wai Cheung; Amy Crunk; Cynthia Curry; Usha Dayal; Leona Fishman; Patricia Hixson; James R Lupski; Malgorzata J M Nowaczyk; Nicole Parkinson; Tyler Reimschisel; James J Riviello; Jill A Rosenfeld; Lisa G Shaffer; Pawel Stankiewicz; Matthew Thomas; James W Wheless; William Wilson; Svetlana A Yatsenko; Susan Zeesman; Bassem A Bejjani; Fernando Scaglia
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Marta Czugala; Bassem A Bejjani; Justyna A Karolak; Andrea Molinari; Dorota M Nowak; Jose Pitarque; Piotr Polakowski; Malgorzata Rydzanicz; Jacek P Szaflik; Beatrice Y J T Yue; Marzena Gajecka
Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Bassem Bejjani (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Dorota M Nowak; Jose A Pitarque; Bassem A Bejjani; Marta Gut; Justyna A Karolak; Joanna Kubiak; Andrea Molinari; Marzena Gajecka
Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.
Investigative ophthalmology & visual science 2013;54(3):2207-15.
2012: Ian M Campbell; Sau Wai Cheung; Amy Crunk; Cynthia Curry; Usha Dayal; Leona Fishman; Patricia Hixson; James R Lupski; Malgorzata J M Nowaczyk; Nicole Parkinson; Tyler Reimschisel; James J Riviello; Jill A Rosenfeld; Lisa G Shaffer; Pawel Stankiewicz; Matthew Thomas; James W Wheless; William Wilson; Svetlana A Yatsenko; Susan Zeesman; Bassem A Bejjani; Fernando Scaglia
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(10):868-76.
2012: Marta Czugala; Bassem A Bejjani; Justyna A Karolak; Andrea Molinari; Dorota M Nowak; Jose Pitarque; Piotr Polakowski; Malgorzata Rydzanicz; Jacek P Szaflik; Beatrice Y J T Yue; Marzena Gajecka
Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.
European journal of human genetics : EJHG 2012;20(4):389-97.
2011: Trilochan Sahoo; Roger A Schultz; Aaron Theisen; Beth S Torchia; Bassem A Bejjani; Ian Casci; Allen N Lamb; Nicholas Neill; J. Britt Ravnan; Jill A Rosenfeld; Lisa G Shaffer
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(10):868-80.
2011: Sarah Berwouts; Jill Brandon; Todd M Christensen; David Barton; Bassem A Bejjani; Elisabeth Dequeker
Multiallelic synthetic quality control material: lessons learned from the cystic fibrosis external quality assessment scheme.
Genetic testing and molecular biomarkers 2011;15(9):579-86.
2011: Jill A Rosenfeld; Roger A Schultz; Raymond C Tervo; Blake C Ballif; Bassem A Bejjani; Carol L Clericuzio; Tom Cushing; Joanne Milisa Drautz; Marzena Gajecka; Justyna A Karolak; Allen N Lamb; Judith Martin; Dorota M Nowak; Jose A Pitarque; Salmo Raskin; Lisa G Shaffer
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
American journal of medical genetics. Part A 2011;155A(8):1906-16.
2011: Trilochan Sahoo; Pedro A Sanchez-Lara; Daniela N Schweitzer; Lisa G Shaffer; Aaron Theisen; Beth S Torchia; Bassem A Bejjani; Allen N Lamb; Michael Marble; Yves Lacassie
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
American journal of medical genetics. Part A 2011;155A(7):1646-53.
2011: Jill A Rosenfeld; Lindsey E Stephens; Justine Coppinger; Blake C Ballif; Joe J Hoo; Beatrice N French; Valerie C Banks; Wendy E Smith; David Manchester; Anne Chun-Hui Tsai; Katrina Merrion; Roberto Mendoza-Londono; Lucie Dupuis; Roger Schultz; Beth Torchia; Trilochan Sahoo; Bassem A Bejjani; David D Weaver; Lisa G Shaffer
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
European journal of human genetics : EJHG 2011;19(5):547-54.
2011: Lisa G Shaffer; Bassem A Bejjani
Development of new postnatal diagnostic methods for chromosome disorders.
Seminars in fetal & neonatal medicine 2011;16(2):114-8.
2011: Malgorzata Rydzanicz; Celi Sun; Daniel Winters; Bassem A Bejjani; Agata Frajdenberg; Malgorzata Mrugacz; Swapan K Nath; Monika Podfigurna-Musielak; Uppala Radhakrishna; Uppala Ratnamala; Marzena Gajecka
Identification of novel suggestive loci for high-grade myopia in Polish families.
Molecular vision 2011;17():2028-39.
2011: Justyna A Karolak; Karolina Kulinska; Dorota M Nowak; Jose A Pitarque; Andrea Molinari; Malgorzata Rydzanicz; Bassem A Bejjani; Marzena Gajecka
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
Molecular vision 2011;17():827-43.
2010: Jill A Rosenfeld; Blake C Ballif; Beth S Torchia; Trilochan Sahoo; J Britt Ravnan; Roger Schultz; Allen Lamb; Bassem A Bejjani; Lisa G Shaffer
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(11):694-702.
2010: Angela L Duker; Blake C Ballif; Erawati V Bawle; Richard E Person; Sangeetha Mahadevan; Sarah Alliman; Regina Thompson; Ryan Traylor; Bassem A Bejjani; Lisa Shaffer; Jill A Rosenfeld; Allen N Lamb; Trilochan Sahoo
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
European journal of human genetics : EJHG 2010;18(11):1196-201.
2010: Jill A Rosenfeld; Blake C Ballif; Donna M Martin; Arthur S Aylsworth; Bassem A Bejjani; Beth S Torchia; Lisa G Shaffer
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
Human genetics 2010;127(4):421-40.
2010: Blake C Ballif; Aaron Theisen; Jill A Rosenfeld; Ryan N Traylor; Julie M Gastier-Foster; Devon Lamb Thrush; Caroline Astbury; Dennis Bartholomew; Kim L McBride; Robert E Pyatt; Kate Shane; Wendy E Smith; Valerie Banks; William B Gallentine; Pamela Brock; M Katharine Rudd; Margaret P Adam; Julia A Keene; John A Phillips; Jean P Pfotenhauer; Gordon C Gowans; Pawel Stankiewicz; Bassem A Bejjani; Lisa Shaffer
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.
American journal of human genetics 2010;86(3):454-61.
2010: Nicholas J Neill; Beth S Torchia; Bassem A Bejjani; Lisa Shaffer; Blake C Ballif
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH.
Molecular cytogenetics 2010;3():11.
2010: Bassem A Bejjani; Lisa Shaffer; Blake C Ballif
The use of microarray technology for cytogenetics.
Methods in molecular biology (Clifton, N.J.) 2010;632():125-39.
2009: Ilan E Timor-Tritsch; Sarah Kapp; Robert Berg; Bassem A Bejjani; Sara Anne Adams; Ana Monteagudo; Michael Divon; John G Pappas
Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2009;28(12):1735-42.
2009: Justine Coppinger; Sarah Alliman; Allen N Lamb; Beth S Torchia; Bassem A Bejjani; Lisa Shaffer
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.
Prenatal diagnosis 2009;29(12):1156-66.
2009: Jill A Rosenfeld; Kathleen Leppig; Blake C Ballif; Heidi Thiese; Christine Erdie-Lalena; Erawati V Bawle; Sujatha Sastry; J Edward Spence; Anne Bandholz; Urvashi Surti; Jonathan (Jon) Zonana; Kory L Keller; Wendy Meschino; Bassem A Bejjani; Beth S Torchia; Lisa Shaffer
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(11):797-805.
2009: Steve Byerly; Kyle Sundin; Rajiv Raja; Jim Stanchfield; Bassem A Bejjani; Lisa Shaffer
Effects of ozone exposure during microarray posthybridization washes and scanning.
The Journal of molecular diagnostics : JMD 2009;11(6):590-7.
2009: John M Graham; Nancy Kramer; Bassem A Bejjani; Christian T Thiel; Claudio Carta; Giovanni Neri; Marco Tartaglia; Martin Zenker
Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.
American journal of medical genetics. Part A 2009;149A(10):2122-8.
2009: Lisa Shaffer; Bassem A Bejjani
Using microarray-based molecular cytogenetic methods to identify chromosome abnormalities.
Pediatric annals 2009;38(8):440-7.
2009: Sara Anne Adams; Justine Coppinger; Sulagna C Saitta; Tracy Stroud; Manikum Kandamurugu; Zheng Fan; Blake C Ballif; Lisa Shaffer; Bassem A Bejjani
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: Aaron Theisen; Jill A Rosenfeld; Sandra A Farrell; Catharine J Harris; Heather H Wetzel; Beth A Torchia; Bassem A Bejjani; Blake C Ballif; Lisa Shaffer
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: Justine Coppinger; Donna McDonald-McGinn; Elaine Zackai; Kate Shane; Joan F Atkin; Alexander Asamoah; Robert Leland; David D Weaver; Susan C Lansky-Shafer; Karen Schmidt; Heidi Feldman; William Cohen; Judy Phalin; Berkley Powell; Blake C Ballif; Aaron Theisen; Elizabeth Geiger; Chad Haldeman-Englert; Tamim H Shaikh; Sulagna Saitta; Bassem A Bejjani; Lisa Shaffer
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: Marzena Gajecka; Uppala Radhakrishna; Daniel Winters; Swapan K Nath; Malgorzata Rydzanicz; Uppala Ratnamala; Kimberly Ewing; Andrea Molinari; Jose A Pitarque; Kwanghyuk Lee; Suzanne M Leal; Bassem A Bejjani
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
Investigative ophthalmology & visual science 2009;50(4):1531-9.
2009: Roland Haj; Kelly Jackson; Beth A Torchia; Lisa Shaffer; Bassem A Bejjani; Gordon C Gowans; Michael W Ruff
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: Prakesh S Shah; Prashanth Murthy; David Skidmore; Lisa Shaffer; Bassem A Bejjani; David Chitayat
Williams syndrome in a preterm infant with phenotype of Alagille syndrome.
American journal of medical genetics. Part A 2008;146A(18):2407-11.
2008: Lisa Shaffer; Justine Coppinger; Sarah Alliman; Beth A Torchia; Aaron Theisen; Blake C Ballif; Bassem A Bejjani
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.
Prenatal diagnosis 2008;28(9):789-95.
2008: Lisa G Shaffer; Aaron Theisen; Blake C Ballif; Bassem A Bejjani; Emily A Rorem; Beth A Torchia
In the middle of it all: a centered approach to chromosome analysis.
Expert opinion on medical diagnostics 2008;2(2):221-9.
2008: Beeran Meghpara; Xin Li; Hiroshi Nakamura; Ahsan Khan; Bassem A Bejjani; Shan Lin; Deepak P Edward
Human anterior chamber angle development without cell death or macrophage involvement.
Molecular vision 2008;14():2492-8.
2008: Bassem A Bejjani; Lisa Shaffer
Clinical utility of contemporary molecular cytogenetics.
Annual review of genomics and human genetics 2008;9():71-86.
2008: Blake C Ballif; Aaron Theisen; Justine Coppinger; Gordon C Gowans; Joseph H Hersh; Suneeta Madan-Khetarpal; Karen R Schmidt; Raymond Tervo; Luis F Escobar; Christopher A Friedrich; Marie McDonald; Lindsey Campbell; Jeffrey E Ming; Elaine H Zackai; Bassem A Bejjani; Lisa Shaffer
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
Molecular cytogenetics 2008;1():8.
2007: Lisa Shaffer; Bassem A Bejjani; Beth Torchia; Susan Kirkpatrick; Justine Coppinger; Blake C Ballif
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: Lisa Shaffer; Aaron Theisen; Bassem A Bejjani; Blake C Ballif; Arthur S Aylsworth; Cynthia Lim; Marie McDonald; Jay W Ellison; Dana Kostiner; Sulagna C Saitta; Tamim H Shaikh
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: Blake C Ballif; Sara A Hornor; Elizabeth Jenkins; Suneeta Madan-Khetarpal; Urvashi Surti; Kelly E Jackson; Alexander Asamoah; Pamela L Brock; Gordon C Gowans; Robert L Conway; John M Graham; Livija Medne; Elaine H Zackai; Tamim H Shaikh; Joel Geoghegan; Rebecca R Selzer; Peggy S Eis; Bassem A Bejjani; Lisa Shaffer
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Nature genetics 2007;39(9):1071-3.
2007: Blake C Ballif; Scott G Sulpizio; Richard M Lloyd; Sara L Minier; Aaron Theisen; Bassem A Bejjani; Lisa Shaffer
The clinical utility of enhanced subtelomeric coverage in array CGH.
American journal of medical genetics. Part A 2007;143A(16):1850-7.
2007: Girish V Putcha; Bassem A Bejjani; Stacey Bleoo; Jessica K Booker; John C Carey; Nancy Carson; Soma Das; Melissa A Dempsey; Julie M Gastier-Foster; John H Greinwald; Marcy L Hoffmann; Linda Jo Bone Jeng; Margaret A Kenna; Ishrag Khababa; Margaret Lilley; Rong Mao; Kasinathan Muralidharan; Iris M Otani; Heidi L Rehm; Fred Schaefer; William K Seltzer; Elaine B Spector; Michelle A Springer; Karen Weck-Taylor; Richard J Wenstrup; Stacey Withrow; Bai-Lin Wu; Maimoona A Zariwala; Iris Schrijver
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: Todd M Christensen; Mohamed Jama; Victor Ponek; Elaine Lyon; Jean Amos Wilson; Marcy L Hoffmann; Bassem A Bejjani
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: Blake C Ballif; Sara A Hornor; Scott G Sulpizio; Richard M Lloyd; Sara L Minier; Emily A Rorem; Aaron Theisen; Bassem A Bejjani; Lisa Shaffer
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: Agata Frajdenberg; Krystyna Pecold; Monika Podfigurna-Musielak; Malgorzata Rydzanicz; Malgorzata Mrugacz; Suzanne M Leal; Bassem A Bejjani; Marzena Gajecka
[An analysis of the fundus changes in families with high myopia].
Klinika oczna 2007;109(4-6):173-5.
2006: Blake C Ballif; Emily A Rorem; Kyle Sundin; Matt Lincicum; Shannon Gaskin; Justine Coppinger; Catherine D Kashork; Lisa Shaffer; Bassem A Bejjani
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: Bassem A Bejjani; Lisa Shaffer
Application of array-based comparative genomic hybridization to clinical diagnostics.
The Journal of molecular diagnostics : JMD 2006;8(5):528-33.
2006: Hagit Baris; Bassem A Bejjani; Wen-Hann Tan; David L Coulter; Judith A Martin; Andrea L Storm; Barbara K Burton; Sulagna C Saitta; Marzena Gajecka; Blake C Ballif; Mira Irons; Lisa Shaffer; Virginia E Kimonis
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: Lisa Shaffer; Catherine D Kashork; Reza Saleki; Emily A Rorem; Kyle Sundin; Blake C Ballif; Bassem A Bejjani
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.
The Journal of pediatrics 2006;149(1):98-102.
2006: Carla Bidinost; Natalie Hernandez; Deepak P Edward; Ali A Al-Rajhi; Richard Alan Lewis; James R Lupski; David Wayne Stockton; Bassem A Bejjani
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: Carla Bidinost; Masayuki Matsumoto; Daniel Chung; Nabiha Salem; Kang Zhang; David Wayne Stockton; Antoine Khoury; André Megarbane; Bassem A Bejjani; Elias Traboulsi
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: Blake C Ballif; Catherine D Kashork; Reza Saleki; Emily A Rorem; Kyle Sundin; Bassem A Bejjani; Lisa Shaffer
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: Lisa Shaffer; Bassem A Bejjani
Medical applications of array CGH and the transformation of clinical cytogenetics.
Cytogenetic and genome research 2006;115(3-4):303-9.
2006: Malgorzata Jarmuz; Blake C Ballif; Catherine D Kashork; Aaron Theisen; Bassem A Bejjani; Lisa Shaffer
Comparative genomic hybridization by microarray for the detection of cytogenetic imbalance.
Methods in molecular medicine 2006;128():23-31.
2006: Catherine D Kashork; Aaron Theisen; Bassem A Bejjani; Lisa Shaffer
Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization.
Cytogenetic and genome research 2006;114(3-4):379-83.
2006: Seema R Lalani; Trilochan Sahoo; Merideth E Sanders; Sarika U Peters; Bassem A Bejjani
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.
2006: Manali Doshi; Craig B Marcus; Bassem A Bejjani; Deepak P Edward
Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes.
Experimental eye research 2006;82(1):24-32.
2005: Bassem A Bejjani; Aaron Theisen; Blake C Ballif; Lisa Shaffer
Array-based comparative genomic hybridization in clinical diagnosis.
Expert review of molecular diagnostics 2005;5(3):421-9.
2005: Bassem A Bejjani; Reza Saleki; Blake C Ballif; Emily A Rorem; Kyle Sundin; Aaron Theisen; Catherine D Kashork; Lisa Shaffer
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: Deepak P Edward; Ali A Al-Rajhi; Richard Alan Lewis; Stacey Curry; Zongren Wang; Bassem A Bejjani
Molecular basis of Peters anomaly in Saudi Arabia.
Ophthalmic genetics 2004;25(4):257-70.
2004: Partha Sen; Nivedita Thakur; David Wayne Stockton; Claire Langston; Bassem A Bejjani
Expanding the phenotype of alveolar capillary dysplasia (ACD).
The Journal of pediatrics 2004;145(5):646-51.
2004: Lisa Shaffer; Bassem A Bejjani
A cytogeneticist's perspective on genomic microarrays.
Human reproduction update 2004;10(3):221-6.
2004: Stacey M Curry; Aline G Daou; Pia Hermanns; Andrea Molinari; Richard Alan Lewis; Bassem A Bejjani
Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.
Ophthalmic genetics 2004;25(1):3-9.
2003: Wei Yu; Blake C Ballif; Catherine D Kashork; Heidi A Heilstedt; Leslie A Howard; Wei-Wen Cai; Lisa D White; Wenbin Liu; Arthur L Beaudet; Bassem A Bejjani; Chad A Shaw; Lisa Shaffer
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: Junghan Song; Lalita Wadhwa; Bassem A Bejjani; William E O'Brien
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: Jennifer S Mammen; Gary S Pittman; Ying Li; Fadi Abou-Zahr; Bassem A Bejjani; Douglas A Bell; Paul T Strickland; Thomas R Sutter
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: W Michael McCormack; Joseph J Shen; Stacey M Curry; Sue Ann Berend; Catherine D Kashork; Halit Pinar; Lorraine Potocki; Bassem A Bejjani
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: Jiangzhen Li; Tao Jiang; Bassem A Bejjani; E Rajcan-Separovic; Wei-Wen Cai
High-resolution human genome scanning using whole-genome BAC arrays.
Cold Spring Harbor symposia on quantitative biology 2003;68():323-9.
2002: W Michael McCormack; Joseph J Shen; Stacey M Curry; Sue Ann Berend; Catherine D Kashork; Halit Pinar; Lorraine Potocki; Bassem A Bejjani
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: Bassem A Bejjani; Li Xu; Dawna Armstrong; James R Lupski; Lixing W Reneker
Expression patterns of cytochrome P4501B1 (Cyp1b1) in FVB/N mouse eyes.
Experimental eye research 2002;75(3):249-57.
2002: Sue Ann Berend; Bassem A Bejjani; Christopher McCaskill; Lisa Shaffer
Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.
American journal of medical genetics 2002;111(4):362-5.
2002: Yuan-Qing Wu; Bassem A Bejjani; Lap-Chee Tsui; Ariane Mandel; Lucy Osborne; Lisa Shaffer
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: André Mégarbané; Bassem A Bejjani; Lisa Shaffer; Sélim Jambart; Noëlle Souraty; Catherine D Kashork; Martine Le Merrer
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: K E Atkins; Anthony Gregg; AS Spikes; Carlos A Bacino; Bassem A Bejjani; J Kirkland; Lisa Shaffer
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: Bassem A Bejjani; David Wayne Stockton; R A Lewis; K F Tomey; D K Dueker; MH Jabak; W F Astle; James R Lupski
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: Sue Ann Berend; Lisa Shaffer; Bassem A Bejjani
Pure trisomy 10p involving an isochromosome 10p.
Clinical genetics 1999;55(5):367-71.
1999: F Abou-Zahr; Bassem A Bejjani; Frank A E Kruyt; R Kurg; Carlos A Bacino; Stuart K Shapira; Hagop Youssoufian
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: Bassem A Bejjani; Kerby Oberg; Isabelle A. Wilkins; AA Moise; Claire Langston; andrea superti-furga; James R Lupski
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1.
American journal of medical genetics 1998;79(5):392-5.
1998: Bassem A Bejjani; R A Lewis; K F Tomey; K L Anderson; D K Dueker; MH Jabak; W F Astle; Britt Otterud; Mark Leppert; James R Lupski
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: K L Anderson; R A Lewis; Bassem A Bejjani; L Baird; Britt Otterud; K F Tomey; W F Astle; D K Dueker; M Leppert; James R Lupski
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.