Bejjani, Bassem: search on Z-Library

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1

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, Evan E. Eichler, Lisa G. Shaffer, Blake C. Ballif

Journal:

Journal of Neurodevelopmental Disorders

Year:

2010

Language:

english

File:

PDF, 460 KB

english, 2010

2

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

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

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 407 KB

english, 2006

3

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, Justine Coppinger, Blake C. Ballif

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2007

Language:

english

File:

PDF, 232 KB

english, 2007

4

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

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

Journal:

Molecular Cytogenetics

Year:

2009

Language:

english

File:

PDF, 713 KB

english, 2009

5

Cloning, Genomic Structure, and Expression of Mouse Ring Finger Protein GeneZnf179

Qi Zhao, Ken-Shiung Chen, Bassem A. Bejjani, James R. Lupski

Journal:

Year:

1998

Language:

english

File:

PDF, 312 KB

english, 1998

6

Expanding the phenotype of alveolar capillary dysplasia (ACD)

Partha Sen, Nivedita Thakur, David W. Stockton, Claire Langston, Bassem A. Bejjani

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 275 KB

english, 2004

7

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

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

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 251 KB

english, 2006

8

Molecular basis of Peters anomaly in Saudi Arabia

Edward, Deepak, Rajhi, Ali Al, Lewis, Richard Alan, Curry, Stacey, Wang, Zongren, Bejjani, Bassem

Journal:

Ophthalmic Genetics

Year:

2004

Language:

english

File:

PDF, 243 KB

english, 2004

9

Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients

Yuan-Qing Wu, Bassem A. Bejjani, Lap-Chee Tsui, Ariane Mandel, Lucy R. Osborne, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 95 KB

english, 2002

10

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Pawel Stankiewicz, Partha Sen, Samarth S. Bhatt, Mekayla Storer, Zhilian Xia, Bassem A. Bejjani, Zhishuo Ou, Joanna Wiszniewska, Daniel J. Driscoll, Melissa K. Maisenbacher, Juan Bolivar, Mislen Bauer

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

11

Williams syndrome in a preterm infant with phenotype of Alagille syndrome

Prakesh S. Shah, Prashanth Murthy, David Skidmore, Lisa G. Shaffer, Bassem A Bejjani, David Chitayat

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 117 KB

english, 2008

12

Genetic disorders that masquerade as multiple sclerosis

Marvin R. Natowicz, Bassem Bejjani

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 2.64 MB

english, 1994

13

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.59 MB

english, 2011

14

Effects of Ozone Exposure during Microarray Posthybridization Washes and Scanning

Byerly, Steve, Sundin, Kyle, Raja, Rajiv, Stanchfield, Jim, Bejjani, Bassem A., Shaffer, Lisa G.

Journal:

The Journal of Molecular Diagnostics

Year:

2009

Language:

english

File:

PDF, 2.53 MB

english, 2009

15

Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome

John M. Graham Jr, Nancy Kramer, Bassem A. Bejjani, Christian T. Thiel, Claudio Carta, Giovanni Neri, Marco Tartaglia, Martin Zenker

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 247 KB

english, 2009

16

Substitution at IL1RN and Deletion at SLC4A11 Segregating with Phenotype in Familial Keratoconus

Nowak, Dorota M., Karolak, Justyna A., Kubiak, Joanna, Gut, Marta, Pitarque, Jose A., Molinari, Andrea, Bejjani, Bassem A., Gajecka, Marzena

Journal:

Investigative Ophthalmology & Visual Science

Year:

2013

Language:

english

File:

PDF, 320 KB

english, 2013

17

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two Patients with Seckel syndrome

Abou-Zahr, Fadi, Bejjani, Bassem, Kruyt, Frank A.E., Kurg, Reet, Bacino, Carlos, Shapira, Stuart K., Youssoufian, Hagop

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 133 KB

english, 1999

18

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, Bassem A. Bejjani, Lisa G. Shaffer

Journal:

Prenatal Diagnosis

Year:

2009

Language:

english

File:

PDF, 267 KB

english, 2009

19

Of Mice and Men: Tyrosinase Modification of Congenital Glaucoma in Mice but Not in Humans

Bidinost, Carla, Hernandez, Natalie, Edward, Deepak P., Al-Rajhi, Ali, Lewis, Richard Alan, Lupski, James R., Stockton, David W., Bejjani, Bassem A.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

20

Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH

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

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 2.91 MB

english, 2007

21

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation

André Mégarbané, Bassem A. Bejjani, Lisa G. Shaffer, Sélim Jambart, Noelle Souraty, Catherine D. Kashork, Martine Le Merrer

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 212 KB

english, 2002

22

Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1

Bejjani, Bassem A., Oberg, Kerby C., Wilkins, Isabelle, Moise, Alicia, Langston, Claire, Superti-Furga, Andrea, Lupski, James R.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 186 KB

english, 1998

23

Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations

Sue Ann Berend, Bassem A. Bejjani, Christopher McCaskill, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 52 KB

english, 2002

24

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

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

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 158 KB

english, 2008

25

Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics

Bassem A. Bejjani, Lisa G. Shaffer

Journal:

The Journal of Molecular Diagnostics

Year:

2006

Language:

english

File:

PDF, 986 KB

english, 2006

26

Design, Development, Validation, and Use of Synthetic Nucleic Acid Controls for Diagnostic Purposes and Application to Cystic Fibrosis Testing

Christensen, Todd M., Jama, Mohamed, Ponek, Victor, Lyon, Elaine, Wilson, Jean Amos, Hoffmann, Marcy L., Bejjani, Bassem A.

Journal:

The Journal of Molecular Diagnostics

Year:

2007

Language:

english

File:

PDF, 992 KB

english, 2007

27

In the middle of it all: a centered approach to chromosome analysis

Shaffer, Lisa G, Ballif, Blake C, Theisen, Aaron, Rorem, Emily, Bejjani, Bassem A, Torchia, Beth A

Journal:

Expert Opinion on Medical Diagnostics

Year:

2008

Language:

english

File:

PDF, 1.05 MB

english, 2008

28

Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGH

Adams, Sara Anne, Coppinger, Justine, Saitta, Sulagna C, Stroud, Tracy, Kandamurugu, Manikum, Fan, Zheng, Ballif, Blake C, Shaffer, Lisa G, Bejjani, Bassem A

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 690 KB

english, 2009

29

Greig Cephalopolysyndactyly Syndrome

Timor-Tritsch, Ilan E., Kapp, Sarah, Berg, Robert, Bejjani, Bassem A., Adams, Sara Anne, Monteagudo, Ana, Divon, Michael, Pappas, John G.

Journal:

Journal of Ultrasound in Medicine

Year:

2009

Language:

english

File:

PDF, 460 KB

english, 2009

30

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family

Karolak, Justyna A., Rydzanicz, Malgorzata, Ginter-Matuszewska, Barbara, Pitarque, Jose A., Molinari, Andrea, Bejjani, Bassem A., Gajecka, Marzena

Journal:

Investigative Opthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 319 KB

english, 2015

31

A Comprehensive Update on Congenital Glaucoma

Edward, Deepak, Vajaranant, Thasarat, Al-Shahwan, Sami, Bejjani, Bassem

Journal:

Current Pediatric Reviews

Year:

2008

Language:

english

File:

PDF, 259 KB

english, 2008

32

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, Kyle Sundin, Aaron Theisen, Catherine D. Kashork, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 361 KB

english, 2005

33

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

Sahoo, Trilochan, Theisen, Aaron, Rosenfeld, Jill A., Lamb, Allen N., Ravnan, J. Britt, Schultz, Roger A., Torchia, Beth S., Neill, Nicholas, Casci, Ian, Bejjani, Bassem A., Shaffer, Lisa G.

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 356 KB

english, 2011

34

A Gene for Primary Congenital Glaucoma Is Not Linked to the Locus on Chromosome lq for Autosomal Dominant Juvenile-Onset Open Angle Glaucoma

Anderson, Kent L., Lewis, Richard Alan, Bejjani, Bassem A., BAIRD, LISA, Otterud, Brith, Tomey, RKarim F., ASTLE, WILLIAM F., Dueker, David K., LEPPERT, MARK, Lupski, James R.

Journal:

Journal of Glaucoma

Year:

1996

File:

PDF, 506 KB

1996

35

Array-based comparative genomic hybridization in clinical diagnosis

Bejjani, Bassem A, Theisen, Aaron P, Ballif, Blake C, Shaffer, Lisa G

Journal:

Expert Review of Molecular Diagnostics

Year:

2005

Language:

english

File:

PDF, 205 KB

english, 2005

36

Identification of Y chromatin directly in gonadal tissue by fluorescence in situ hybridization (FISH): Significance for Ullrich-Turner syndrome screening in the cytogenetics laboratory

Atkins, Kay E., Gregg, Anthony, Spikes, Aimee S., Bacino, Carlos A., Bejjani, Bassem A., Kirkland, John, Shaffer, Lisa G.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 1.10 MB

english, 2000

37

aCGH detects partial tetrasomy of 12p in blood from Pallister–Killian syndrome cases without invasive skin biopsy

Aaron Theisen, Jill A. Rosenfeld, Sandra A. Farrell, Catharine J. Harris, Heather H. Wetzel, Beth A. Torchia, Bassem A. Bejjani, Blake C. Ballif, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 146 KB

english, 2009

38

Expression Patterns of Cytochrome P4501B1 (Cyp1b1) in FVB/N Mouse Eyes

Bassem A. Bejjani, Li Xu, Dawna Armstrong, James R. Lupski, Lixing W. Reneker

Journal:

Experimental Eye Research

Year:

2002

Language:

english

File:

PDF, 282 KB

english, 2002

39

Clinical Utility of Contemporary Molecular Cytogenetics

Bejjani, Bassem A., Shaffer, Lisa G.

Journal:

Annual Review of Genomics and Human Genetics

Year:

2008

Language:

english

File:

PDF, 250 KB

english, 2008

40

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

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

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 1.64 MB

english, 2007

41

Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes

Manali Doshi, Craig Marcus, Bassem A. Bejjani, Deepak P. Edward

Journal:

Experimental Eye Research

Year:

2006

Language:

english

File:

PDF, 514 KB

english, 2006

42

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders

Rosenfeld, Jill A, Ballif, Blake C, Torchia, Beth S, Sahoo, Trilochan, Ravnan, J Britt, Schultz, Roger, Lamb, Allen, Bejjani, Bassem A, Shaffer, Lisa G

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 262 KB

english, 2010

43

Multiallelic Synthetic Quality Control Material: Lessons Learned from the Cystic Fibrosis External Quality Assessment Scheme

Berwouts, Sarah, Christensen, Todd M., Brandon, Jill, Bejjani, Bassem A., Barton, David E., Dequeker, Elisabeth

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2011

Language:

english

File:

PDF, 373 KB

english, 2011

44

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

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

Journal:

Obstetric and Gynecologic Survey

Year:

2008

Language:

english

File:

PDF, 564 KB

english, 2008

45

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

Blake C. Ballif, Emily A. Rorem, Kyle Sundin, Matt Lincicum, Shannon Gaskin, Justine Coppinger, Catherine D. Kashork, Lisa G. Shaffer, Bassem A. Bejjani

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 448 KB

english, 2006

46

Pure trisomy 10p involving an isochromosome 10p

Sue Ann Berend, Lisa G Shaffer, Bassem A Bejjani

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 204 KB

english, 1999

47

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

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

Journal:

Year:

2010

Language:

english

File:

PDF, 817 KB

english, 2010

48

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

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,

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 686 KB

english, 2007

49

Targeted Array CGH

Bejjani, Bassem A., Shaffer, Lisa G.

Journal:

The Journal of Molecular Diagnostics

Year:

2006

Language:

english

File:

PDF, 48 KB

english, 2006

50

The clinical utility of enhanced subtelomeric coverage in array CGH

Blake C. Ballif, Scott G. Sulpizio, Richard M. Lloyd, Sara L. Minier, Aaron Theisen, Bassem A. Bejjani, Lisa G. Shaffer

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 271 KB

english, 2007

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