Works by Bejjani, Bassem A

Results: 23

COVID‐19 and the adaptive evolution of genetic counseling.

Published in:

Journal of Genetic Counseling, 2022, v. 31, n. 4, p. 832, doi. 10.1002/jgc4.1571

By:

Hassel, Nathan C.;
Gilbert, Adel D.;
Bejjani, Bassem A.

Publication type:

Article

Evaluation of an automated process for disclosure of negative noninvasive prenatal test results.

Published in:

Journal of Genetic Counseling, 2019, v. 28, n. 4, p. 847, doi. 10.1002/jgc4.1127

By:

Kalejta, Cassidi D.;
Higgins, Sonja;
Kershberg, Hilary;
Greenberg, Jeff;
Alvarado, Monica;
Cooke, Kerry;
Bhatt, Sucheta;
Bulpitt, Denise;
Armour, Jamie;
Bejjani, Bassem;
Ryan, Shawnia;
Elms, Amanda

Publication type:

Article

Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Published in:

Human Genetics, 2010, v. 127, n. 4, p. 421, doi. 10.1007/s00439-009-0778-7

By:

Rosenfeld, Jill A.;
Ballif, Blake C.;
Martin, Donna M.;
Aylsworth, Arthur S.;
Bejjani, Bassem A.;
Torchia, Beth S.;
Shaffer, Lisa G.

Publication type:

Article

The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD).

Published in:

Clinical Genetics, 1991, v. 39, n. 4, p. 245, doi. 10.1111/j.1399-0004.1991.tb03022.x

By:

Bejjani, Bassem;
Finn, Paula;
Milunsky, Aubrey;
Amos, Jean

Publication type:

Article

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

Published in:

Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107

By:

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 Jr., John M.;
Medne, Livija;
Zackai, Elaine H.;
Shaikh, Tamim H.;
Geoghegan, Joel;
Selzer, Rebecca R.;
Eis, Peggy S.;
Bejjani, Bassem A.;
Shaffer, Lisa G.

Publication type:

Article

A Comprehensive Update on Congenital Glaucoma.

Published in:

Current Pediatric Reviews, 2008, v. 4, n. 1, p. 19, doi. 10.2174/157339608783565806

By:

Vajaranant, Thasarat S.;
Al-Shahwan, Sami;
Bejjani, Bassem A.;
Edward, Deepak P.

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 2009, v. 29, n. 12, p. 1156, doi. 10.1002/pd.2371

By:

Coppinger, Justine;
Alliman, Sarah;
Lamb, Allen N.;
Torchia, Beth S.;
Bejjani, Bassem A.;
Shaffer, Lisa G.

Publication type:

Article

Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens.

Published in:

Prenatal Diagnosis, 2008, v. 28, n. 9, p. 789, doi. 10.1002/pd.2053

By:

Shaffer, Lisa G.;
Coppinger, Justine;
Alliman, Sarah;
Torchia, Beth A.;
Theisen, Aaron;
Ballif, Blake C.;
Bejjani, Bassem A.

Publication type:

Article

Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridization.

Published in:

Prenatal Diagnosis, 2006, v. 26, n. 4, p. 333, doi. 10.1002/pd.1411

By:

Ballif, Blake C.;
Kashork, Catherine D.;
Saleki, Reza;
Rorem, Emily;
Sundin, Kyle;
Bejjani, Bassem A.;
Shaffer, Lisa G.

Publication type:

Article

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 4, p. 389, doi. 10.1038/ejhg.2011.203

By:

Czugala, Marta;
Karolak, Justyna A;
Nowak, Dorota M;
Polakowski, Piotr;
Pitarque, Jose;
Molinari, Andrea;
Rydzanicz, Malgorzata;
Bejjani, Bassem A;
Yue, Beatrice Y J T;
Szaflik, Jacek P;
Gajecka, Marzena

Publication type:

Article

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 5, p. 547, doi. 10.1038/ejhg.2010.237

By:

Rosenfeld, Jill A.;
Stephens, Lindsey E.;
Coppinger, Justine;
Ballif, Blake C;
Hoo, Joe J.;
French, Beatrice N.;
Banks, Valerie C.;
Smith, Wendy E.;
Manchester, David;
Tsai, Anne Chun-Hui;
Merrion, Katrina;
Mendoza-Londono, Roberto;
Dupuis, Lucie;
Schultz, Roger;
Torchia, Beth;
Sahoo, Trilochan;
Bejjani, Bassem;
Weaver, David D.;
Shaffer, Lisa G.

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102

By:

Duker, Angela L.;
Ballif, Blake C.;
Bawle, Erawati V.;
Person, Richard E.;
Mahadevan, Sangeetha;
Alliman, Sarah;
Thompson, Regina;
Traylor, Ryan;
Bejjani, Bassem A.;
Shaffer, Lisa G.;
Rosenfeld, Jill A.;
Lamb, Allen N.;
Sahoo, Trilochan

Publication type:

Article

Using Microarray-based Molecular Cytogenetic Methods to Identify Chromosome Abnormalities.

Published in:

Pediatric Annals, 2009, v. 38, n. 8, p. 440, doi. 10.3928/00904481-20090723-08

By:

Shaffer, Lisa G.;
Bejjani, Bassem A.

Publication type:

Article

Pure trisomy 10p involving an isochromosome 10p.

Published in:

Clinical Genetics, 1999, v. 55, n. 5, p. 367, doi. 10.1034/j.1399-0004.1999.550512.x

By:

Berend, Sue Ann;
Shaffer, Lisa G;
Bejjani, Bassem A

Publication type:

Article

Molecular basis of Peters anomaly in Saudi Arabia.

Published in:

Ophthalmic Genetics, 2004, v. 25, n. 4, p. 257, doi. 10.1080/13816810490902648

By:

Edward, Deepak P.;
Rajhi, Ali Al;
Lewis, Richard Alan;
Curry, Stacey A.;
Wang, Zongren;
Bejjani, Bassem A.

Publication type:

Article

Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.

Published in:

Ophthalmic Genetics, 2004, v. 25, n. 1, p. 3, doi. 10.1076/opge.25.1.3.28999

By:

Curry, Stacey M.;
Daou, Aline G.;
Hermanns, Pia;
Molinari, Andrea;
Lewis, Richard Alan;
Bejjani, Bassem A.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2003, v. 12, n. 17, p. 2145

By:

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.

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2000, v. 9, n. 3, p. 367, doi. 10.1093/hmg/9.3.367

By:

Bejjani, Bassem A.

Publication type:

Article

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1906, doi. 10.1002/ajmg.a.34100

By:

Rosenfeld, Jill A.;
Drautz, Joanne Milisa;
Clericuzio, Carol L.;
Cushing, Tom;
Raskin, Salmo;
Martin, Judith;
Tervo, Raymond C.;
Pitarque, Jose A.;
Nowak, Dorota M.;
Karolak, Justyna A.;
Lamb, Allen N.;
Schultz, Roger A.;
Ballif, Blake C.;
Bejjani, Bassem A.;
Gajecka, Marzena;
Shaffer, Lisa G.

Publication type:

Article

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1646, doi. 10.1002/ajmg.a.34063

By:

Sahoo, Trilochan;
Theisen, Aaron;
Sanchez-Lara, Pedro A.;
Marble, Michael;
Schweitzer, Daniela N.;
Torchia, Beth S.;
Lamb, Allen N.;
Bejjani, Bassem A.;
Shaffer, Lisa G.;
Lacassie, Yves

Publication type:

Article

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

Published in:

Journal of Neurodevelopmental Disorders, 2010, v. 2, n. 1, p. 26, doi. 10.1007/s11689-009-9037-4

By:

Rosenfeld, Jill;
Coppinger, Justine;
Bejjani, Bassem;
Girirajan, Santhosh;
Eichler, Evan;
Shaffer, Lisa;
Ballif, Blake

Publication type:

Article

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CHG.

Published in:

Molecular Cytogenetics (17558166), 2010, v. 3, p. 11, doi. 10.1186/1755-8166-3-11

By:

Neill, Nicholas J.;
Torchia, Beth S.;
Bejjani, Bassem A.;
Shaffer, Lisa G.;
Ballif, Blake C.

Publication type:

Article

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.

Published in:

2009

By:

Haj, Roland;
Jackson, Kelly;
Torchia, Beth A.;
Shaffer, Lisa G.;
Bejjani, Bassem A.;
Gowans, Gordon C.;
Ruff, Michael W.

Publication type:

Case Study