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Beverly Emanuel

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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Kurahashi Hiroki; Inagaki Hidehito; Kato Takema; Hosoba Eriko; Kogo Hiroshi; Ohye Tamae; Tsutsumi Makiko; Bolor Hasbaira; Tong Maoqing; Emanuel Beverly S
Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.
Inagaki Hidehito; Ohye Tamae; Kogo Hiroshi; Kato Takema; Bolor Hasbaira; Taniguchi Mariko; Shaikh Tamim H; Emanuel Beverly S; Kurahashi Hiroki
Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.
Goldmuntz Elizabeth; Driscoll Deborah A; Emanuel Beverly S; McDonald-McGinn Donna; Mei Minghua; Zackai Elaine; Mitchell Laura E
Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome.

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All Publications

2009: Kurahashi Hiroki; Inagaki Hidehito; Kato Takema; Hosoba Eriko; Kogo Hiroshi; Ohye Tamae; Tsutsumi Makiko; Bolor Hasbaira; Tong Maoqing; Emanuel Beverly S
Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.
Human molecular genetics 2009;18(18):3397-406.
2009: Inagaki Hidehito; Ohye Tamae; Kogo Hiroshi; Kato Takema; Bolor Hasbaira; Taniguchi Mariko; Shaikh Tamim H; Emanuel Beverly S; Kurahashi Hiroki
Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.
Genome research 2009;19(2):191-8.
2009: Goldmuntz Elizabeth; Driscoll Deborah A; Emanuel Beverly S; McDonald-McGinn Donna; Mei Minghua; Zackai Elaine; Mitchell Laura E
Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome.
Birth defects research. Part A, Clinical and molecular teratology 2009;85(2):125-9.
2009: Vorstman Jacob A S; Turetsky Bruce I; Sijmens-Morcus Monique E J; de Sain Monique G; Dorland Bert; Sprong Mirjam; Rappaport Eric F; Beemer Frits A; Emanuel Beverly S; Kahn René S; van Engeland Herman; Kemner Chantal
Proline affects brain function in 22q11DS children with the low activity COMT 158 allele.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2009;34(3):739-46.
2008: Kato Takema; Inagaki Hidehito; Kogo Hiroshi; Ohye Tamae; Yamada Kouji; Emanuel Beverly S; Kurahashi Hiroki
Two different forms of palindrome resolution in the human genome: deletion or translocation.
Human molecular genetics 2008;17(8):1184-91.
2008: Jalali G R; Vorstman J A S; Errami Ab; Vijzelaar R; Biegel J; Shaikh T; Emanuel B S
Detailed analysis of 22q11.2 with a high density MLPA probe set.
Human mutation 2008;29(3):433-40.
2008: Li Marilyn M; Nimmakayalu Manjunath A; Mercer Danielle; Andersson Hans C; Emanuel Beverly S
Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays.
American journal of medical genetics. Part A 2008;146(3):368-75.
2008: Hoogendoorn Mechteld L C; Vorstman Jacob A S; Jalali Gholam R; Selten Jean-Paul; Sinke Richard J; Emanuel Beverly S; Kahn René S
Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia.
Schizophrenia research 2008;98(1-3):84-8.
2008: Emanuel Beverly S
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.
Developmental disabilities research reviews 2008;14(1):11-8.
2007: Emanuel Beverly S; Saitta Sulagna C
From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.
Nature reviews. Genetics 2007;8(11):869-83.
2007: Kato Takema; Yamada Kouji; Inagaki Hidehito; Kogo Hiroshi; Ohye Tamae; Emanuel Beverly S; Kurahashi Hiroki
Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm.
Fertility and sterility 2007;88(5):1446-8.
2007: Bearden Carrie E; van Erp Theo G M; Dutton Rebecca A; Tran Helen; Zimmermann Lara; Sun Daqiang; Geaga Jennifer A; Simon Tony J; Glahn David C; Cannon Tyrone D; Emanuel Beverly S; Toga Arthur W; Thompson Paul M
Mapping cortical thickness in children with 22q11.2 deletions.
Cerebral cortex (New York, N.Y. : 1991) 2007;17(8):1889-98.
2007: Korbel Jan O; Urban Alexander Eckehart; Grubert Fabian; Du Jiang; Royce Thomas E; Starr Peter; Zhong Guoneng; Emanuel Beverly S; Weissman Sherman M; Snyder Michael; Gerstein Mark B
Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(24):10110-5.
2007: Shaikh Tamim H; O'Connor Ronald J; Pierpont Mary Ella; McGrath James; Hacker April M; Nimmakayalu Manjunath; Geiger Elizabeth; Emanuel Beverly S; Saitta Sulagna C
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
Genome research 2007;17(4):482-91.
2007: Gotter Anthony L; Nimmakayalu Manjunath A; Jalali G Reza; Hacker April M; Vorstman Jacob; Conforto Duffy Danielle; Medne Livija; Emanuel Beverly S
A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies.
Genome research 2007;17(4):470-81.
2007: Kurahashi Hiroki; Inagaki Hidehito; Hosoba Eriko; Kato Takema; Ohye Tamae; Kogo Hiroshi; Emanuel Beverly S
Molecular cloning of a translocation breakpoint hotspot in 22q11.
Genome research 2007;17(4):461-9.
2007: Gotter Anthony L; Suppa Christine; Emanuel Beverly S
Mammalian TIMELESS and Tipin are evolutionarily conserved replication fork-associated factors.
Journal of molecular biology 2007;366(1):36-52.
2007: Kogo Hiroshi; Inagaki Hidehito; Ohye Tamae; Kato Takema; Emanuel Beverly S; Kurahashi Hiroki
Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats.
Nucleic acids research 2007;35(4):1198-208.
2006: Ashley Terry; Gaeth Ann P; Inagaki Hidehito; Seftel Allen; Cohen Maimon M; Anderson Lorinda K; Kurahashi Hiroki; Emanuel Beverly S
Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22).
American journal of human genetics 2006;79(3):524-38.
2006: Kurahashi Hiroki; Inagaki Hidehito; Ohye Tamae; Kogo Hiroshi; Kato Takema; Emanuel Beverly S
Palindrome-mediated chromosomal translocations in humans.
DNA repair 2006;5(9-10):1136-45.
2006: Vorstman J A S; Jalali G R; Rappaport E F; Hacker A M; Scott C; Emanuel B S
MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q.
Human mutation 2006;27(8):814-21.
2006: Ruotolo Rachel A; Veitia Nestor A; Corbin Aaron; McDonough Joseph; Solot Cynthia B; McDonald-McGinn Donna; Zackai Elaine H; Emanuel Beverly S; Cnaan Avital; LaRossa Don; Arens Raanan; Kirschner Richard E
Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006;43(4):446-56.
2006: Driscoll Deborah A; Boland Torrey; Emanuel Beverly S; Kirschner Richard E; LaRossa Don; Manson Jeanne; McDonald-McGinn Donna; Randall Peter; Solot Cynthia; Zackai Elaine; Mitchell Laura E
Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006;43(4):435-41.
2006: Kurahashi Hiroki; Inagaki Hidehito; Ohye Tamae; Kogo Hiroshi; Kato Takema; Emanuel Beverly S
Chromosomal translocations mediated by palindromic DNA.
Cell cycle (Georgetown, Tex.) 2006;5(12):1297-303.
2006: Urban Alexander Eckehart; Korbel Jan O; Selzer Rebecca; Richmond Todd; Hacker April; Popescu George V; Cubells Joseph F; Green Roland; Emanuel Beverly S; Gerstein Mark B; Weissman Sherman M; Snyder Michael
High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(12):4534-9.
2006: Kato Takema; Inagaki Hidehito; Yamada Kouji; Kogo Hiroshi; Ohye Tamae; Kowa Hiroe; Nagaoka Kayuri; Taniguchi Mariko; Emanuel Beverly S; Kurahashi Hiroki
Genetic variation affects de novo translocation frequency.
Science (New York, N.Y.) 2006;311(5763):971.
2005: Inagaki Hidehito; Ohye Tamae; Kogo Hiroshi; Yamada Kouji; Kowa Hiroe; Shaikh Tamim H; Emanuel Beverly S; Kurahashi Hiroki
Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.
Human mutation 2005;26(4):332-42.
2005: Fine Sarah E; Weissman Alison; Gerdes Marsha; Pinto-Martin Jennifer; Zackai Elaine H; McDonald-McGinn Donna M; Emanuel Beverly S
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome.
Journal of autism and developmental disorders 2005;35(4):461-70.
2005: McDonald-McGinn Donna M; Minugh-Purvis Nancy; Kirschner Richard E; Jawad Abbas; Tonnesen Melissa K; Catanzaro Jason R; Goldmuntz Elizabeth; Driscoll Deborah; Larossa Don; Emanuel Beverly S; Zackai Elaine H
The 22q11.2 deletion in African-American patients: an underdiagnosed population?
American journal of medical genetics. Part A 2005;134(3):242-6.
2005: Bearden Carrie E; Jawad Abbas F; Lynch David R; Monterossso John R; Sokol Set; McDonald-McGinn Donna M; Saitta Sulagna C; Harris Stacy E; Moss Edward; Wang Paul P; Zackai Elaine; Emanuel Beverly S; Simon Tony J
Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome.
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence 2005;11(1):109-17.
2005: Simon Tony J; Bish Joel P; Bearden Carrie E; Ding Lijun; Ferrante Samantha; Nguyen Vy; Gee James C; McDonald-McGinn Donna M; Zackai Elaine H; Emanuel Beverly S
A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children.
Development and psychopathology 2005;17(3):753-84.
2004: Bearden Carrie E; Jawad Abbas F; Lynch David R; Sokol Set; Kanes Steven J; McDonald-McGinn Donna M; Saitta Sulagna C; Harris Stacy E; Moss Edward; Wang Paul P; Zackai Elaine; Emanuel Beverly S; Simon Tony J
Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome.
The American journal of psychiatry 2004;161(9):1700-2.
2004: Kurahashi Hiroki; Inagaki Hidehito; Yamada Kouji; Ohye Tamae; Taniguchi Mariko; Emanuel Beverly S; Toda Tatsushi
Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations.
The Journal of biological chemistry 2004;279(34):35377-83.
2004: Bearden Carrie E; van Erp Theo G M; Monterosso John R; Simon Tony J; Glahn David C; Saleh Peter A; Hill Nicole M; McDonald-McGinn Donna M; Zackai Elaine; Emanuel Beverly S; Cannon Tyrone D
Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms.
Neurocase : case studies in neuropsychology, neuropsychiatry, and behavioural neurology 2004;10(3):198-206.
2004: Saitta Sulagna C; Harris Stacy E; Gaeth Ann P; Driscoll Deborah A; McDonald-McGinn Donna M; Maisenbacher Melissa K; Yersak Jill M; Chakraborty Prabir K; Hacker April M; Zackai Elaine H; Ashley Terry; Emanuel Beverly S
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.
Human molecular genetics 2004;13(4):417-28.
2004: Saitta Sulagna C; Harris Stacy E; McDonald-McGinn Donna M; Emanuel Beverly S; Tonnesen Melissa K; Zackai Elaine H; Seitz Suzanne C; Driscoll Deborah A
Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
American journal of medical genetics. Part A 2004;124A(3):313-7.
2004: Gotter Anthony L; Shaikh Tamim H; Budarf Marcia L; Rhodes C Harker; Emanuel Beverly S
A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.
Human molecular genetics 2004;13(1):103-15.
2003: McElhinney Doff B; Driscoll Deborah A; Levin Elissa R; Jawad Abbas F; Emanuel Beverly S; Goldmuntz Elizabeth
Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies.
Pediatrics 2003;112(6 Pt 1):e472.
2003: Nimmakayalu Manjunath A; Gotter Anthony L; Shaikh Tamim H; Emanuel Beverly S
A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22).
Human molecular genetics 2003;12(21):2817-25.
2003: McElhinney D B; Driscoll D A; Emanuel B S; Goldmuntz E
Chromosome 22q11 deletion in patients with truncus arteriosus.
Pediatric cardiology 2003;24(6):569-73.
2003: DeBerardinis Ralph J; Conforto Danielle; Russell Karen; Kaplan Jennifer; Kollros Peter R; Zackai Elaine H; Emanuel Beverly S
Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.
American journal of medical genetics. Part A 2003;121A(1):31-6.
2003: Kurahashi Hiroki; Shaikh Tamim; Takata Masayuki; Toda Tatsushi; Emanuel Beverly S
The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.
American journal of human genetics 2003;72(3):733-8.
2002: Villanueva Melissa P; Aiyer Aparna R; Muller Shaine; Pletcher Mathew T; Liu Xiao; Emanuel Beverly; Srivastava Deepak; Reeves Roger H
Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene.
Genomics 2002;80(6):593-600.
2001: Kurahashi H; Emanuel B S
Long AT-rich palindromes and the constitutional t(11;22) breakpoint.
Human molecular genetics 2001;10(23):2605-17.
2001: Emanuel B S; Shaikh T H
Segmental duplications: an 'expanding' role in genomic instability and disease.
Nature reviews. Genetics 2001;2(10):791-800.
2001: Gripp K W; Kasparcova V; McDonald-McGinn D M; Bhatt S; Bartlett S P; Storm A L; Drumheller T C; Emanuel B S; Zackai E H; Stolle C A
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(2):102-8.
2001: Shaikh T H; Kurahashi H; Emanuel B S
Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(1):6-13.
2001: McDonald-McGinn D M; Tonnesen M K; Laufer-Cahana A; Finucane B; Driscoll D A; Emanuel B S; Zackai E H
Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(1):23-9.
2001: Emanuel B S; McDonald-McGinn D; Saitta S C; Zackai E H
The 22q11.2 deletion syndrome.
Advances in pediatrics 2001;48():39-73.
2000: Kurahashi H; Shaikh T H; Emanuel B S
Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint.
Human molecular genetics 2000;9(18):2727-32.
2000: Kurahashi H; Shaikh T H; Zackai E H; Celle L; Driscoll D A; Budarf M L; Emanuel B S
Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).
American journal of human genetics 2000;67(3):763-8.
2000: Eicher P S; McDonald-Mcginn D M; Fox C A; Driscoll D A; Emanuel B S; Zackai E H
Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow.
The Journal of pediatrics 2000;137(2):158-64.
2000: Kurahashi H; Shaikh T H; Hu P; Roe B A; Emanuel B S; Budarf M L
Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).
Human molecular genetics 2000;9(11):1665-70.
2000: Shaikh T H; Kurahashi H; Saitta S C; O'Hare A M; Hu P; Roe B A; Driscoll D A; McDonald-McGinn D M; Zackai E H; Budarf M L; Emanuel B S
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
Human molecular genetics 2000;9(4):489-501.
2000: Lund J; Chen F; Hua A; Roe B; Budarf M; Emanuel B S; Reeves R H
Comparative sequence analysis of 634 kb of the mouse chromosome 16 region of conserved synteny with the human velocardiofacial syndrome region on chromosome 22q11.2.
Genomics 2000;63(3):374-83.
1999: Shaikh T H; Budarf M L; Celle L; Zackai E H; Emanuel B S
Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.
American journal of human genetics 1999;65(6):1595-607.
1999: Sullivan K E; McDonald-McGinn D; Driscoll D A; Emanuel B S; Zackai E H; Jawad A F
Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Clinical and diagnostic laboratory immunology 1999;6(6):906-11.
1999: Saitta S C; McGrath J M; Mensch H; Shaikh T H; Zackai E H; Emanuel B S
A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.
American journal of human genetics 1999;65(2):562-6.
1999: Gerdes M; Solot C; Wang P P; Moss E; LaRossa D; Randall P; Goldmuntz E; Clark B J; Driscoll D A; Jawad A; Emanuel B S; McDonald-McGinn D M; Batshaw M L; Zackai E H
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.
American journal of medical genetics 1999;85(2):127-33.
1999: Lund J; Roe B; Chen F; Budarf M; Galili N; Riblet R; Miller R D; Emanuel B S; Reeves R H
Sequence-ready physical map of the mouse chromosome 16 region with conserved synteny to the human velocardiofacial syndrome region on 22q11.2.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(5):438-43.
1999: Shaikh T H; Gottlieb S; Sellinger B; Chen F; Roe B A; Oakey R J; Emanuel B S; Budarf M L
Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development.
Mammalian genome : official journal of the International Mammalian Genome Society 1999;10(3):322-6.
1999: Moss E M; Batshaw M L; Solot C B; Gerdes M; McDonald-McGinn D M; Driscoll D A; Emanuel B S; Zackai E H; Wang P P
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.
The Journal of pediatrics 1999;134(2):193-8.
1999: McDonald-McGinn D M; Kirschner R; Goldmuntz E; Sullivan K; Eicher P; Gerdes M; Moss E; Solot C; Wang P; Jacobs I; Handler S; Knightly C; Heher K; Wilson M; Ming J E; Grace K; Driscoll D; Pasquariello P; Randall P; Larossa D; Emanuel B S; Zackai E H
The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
Genetic counseling (Geneva, Switzerland) 1999;10(1):11-24.
1998: Wang P P; Solot C; Moss E M; Gerdes M; McDonald-McGinn D M; Driscoll D A; Emanuel B S; Zackai E H
Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome).
Journal of developmental and behavioral pediatrics : JDBP 1998;19(5):342-5.
1998: Goldmuntz E; Clark B J; Mitchell L E; Jawad A F; Cuneo B F; Reed L; McDonald-McGinn D; Chien P; Feuer J; Zackai E H; Emanuel B S; Driscoll D A
Frequency of 22q11 deletions in patients with conotruncal defects.
Journal of the American College of Cardiology 1998;32(2):492-8.
1998: Smith C A; Driscoll D A; Emanuel B S; McDonald-McGinn D M; Zackai E H; Sullivan K E
Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Clinical and diagnostic laboratory immunology 1998;5(3):415-7.
1998: Weinzimer S A; McDonald-McGinn D M; Driscoll D A; Emanuel B S; Zackai E H; Moshang T
Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype.
Pediatrics 1998;101(5):929-32.
1998: Sullivan K E; Jawad A F; Randall P; Driscoll D A; Emanuel B S; McDonald-McGinn D M; Zackai E H
Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes.
Clinical immunology and immunopathology 1998;86(2):141-6.
1998: Gottlieb S; Driscoll D A; Punnett H H; Sellinger B; Emanuel B S; Budarf M L
Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype.
American journal of human genetics 1998;62(2):495-8.
1998: McTaggart K E; Budarf M L; Driscoll D A; Emanuel B S; Ferreira P; McDermid H E
Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints.
Cytogenetics and cell genetics 1998;81(3-4):222-8.
1997: Ming J E; McDonald-McGinn D M; Megerian T E; Driscoll D A; Elias E R; Russell B M; Irons M; Emanuel B S; Markowitz R I; Zackai E H
Skeletal anomalies and deformities in patients with deletions of 22q11.
American journal of medical genetics 1997;72(2):210-5.
1997: Bingham P M; Zimmerman R A; McDonald-McGinn D; Driscoll D; Emanuel B S; Zackai E
Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11.
American journal of medical genetics 1997;74(5):538-43.
1997: Chieffo C; Garvey N; Gong W; Roe B; Zhang G; Silver L; Emanuel B S; Budarf M L
Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.
Genomics 1997;43(3):267-77.
1997: Gottlieb S; Emanuel B S; Driscoll D A; Sellinger B; Wang Z; Roe B; Budarf M L
The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development.
American journal of human genetics 1997;60(5):1194-201.
1997: McDonald-McGinn D M; Driscoll D A; Emanuel B S; Goldmuntz E; Clark B J; Solot C; Cohen M; Schultz P; LaRossa D; Randall P; Zackai E H
Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence.
Pediatrics 1997;99(5):E9.
1997: Goldmuntz E; Emanuel B S
Genetic disorders of cardiac morphogenesis. The DiGeorge and velocardiofacial syndromes.
Circulation research 1997;80(4):437-43.
1997: Galili N; Baldwin H S; Lund J; Reeves R; Gong W; Wang Z; Roe B A; Emanuel B S; Nayak S; Mickanin C; Budarf M I; Buck C A
A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.
Genome research 1997;7(4):399.
1997: Holmes S E; Riazi M A; Gong W; McDermid H E; Sellinger B T; Hua A; Chen F; Wang Z; Zhang G; Roe B; Gonzalez I; McDonald-McGinn D M; Zackai E; Emanuel B S; Budarf M L
Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.
Human molecular genetics 1997;6(3):357-67.
1997: Gripp K W; McDonald-McGinn D M; Driscoll D A; Reed L A; Emanuel B S; Zackai E H
Nasal dimple as part of the 22q11.2 deletion syndrome.
American journal of medical genetics 1997;69(3):290-2.
1997: Sullivan K E; McDonald-McGinn D M; Driscoll D A; Zmijewski C M; Ellabban A S; Reed L; Emanuel B S; Zackai E H; Athreya B H; Keenan G
Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).
Arthritis and rheumatism 1997;40(3):430-6.
1997: Gong W; Emanuel B S; Galili N; Kim D H; Roe B; Driscoll D A; Budarf M L
Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.
Human molecular genetics 1997;6(2):267-76.
1997: Galili N; Baldwin H S; Lund J; Reeves R; Gong W; Wang Z; Roe B A; Emanuel B S; Nayak S; Mickanin C; Budarf M L; Buck C A
A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.
Genome research 1997;7(1):17-26.
1997: Driscoll D A; Emanuel B S; Mitchell L E; Budarf M L
PCR assay for screening patients at risk for 22q11.2 deletion.
Genetic testing 1997;1(2):109-13.
1997: McDonald-McGinn D M; LaRossa D; Goldmuntz E; Sullivan K; Eicher P; Gerdes M; Moss E; Wang P; Solot C; Schultz P; Lynch D; Bingham P; Keenan G; Weinzimer S; Ming J E; Driscoll D; Clark B J; Markowitz R; Cohen A; Moshang T; Pasquariello P; Randall P; Emanuel B S; Zackai E H
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
Genetic testing 1997;1(2):99-108.
1997: Rhodes C H; Call K M; Budarf M L; Barnoski B L; Bell C J; Emanuel B S; Bigner S H; Park J P; Mohandas T K
Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2).
Cytogenetics and cell genetics 1997;78(3-4):247-52.
1997: Budarf M L; Emanuel B S
Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders?
Human molecular genetics 1997;6(10):1657-65.
1996: McDermid H E; McTaggart K E; Riazi M A; Hudson T J; Budarf M L; Emanuel B S; Bell C J
Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region.
Genome research 1996;6(12):1149-59.
1996: Budarf M L; Eckman B; Michaud D; McDonald T; Gavigan S; Buetow K H; Tatsumura Y; Liu Z; Hilliard C; Driscoll D; Goldmuntz E; Meese E; Zwarthoff E C; Williams S; McDermid H; Dumanski J P; Biegel J; Bell C J; Emanuel B S
Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel.
Genomics 1996;35(2):275-88.
1996: Gong W; Emanuel B S; Collins J; Kim D H; Wang Z; Chen F; Zhang G; Roe B; Budarf M L
A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.
Human molecular genetics 1996;5(6):789-800.
1995: Budarf M L; Collins J; Gong W; Roe B; Wang Z; Bailey L C; Sellinger B; Michaud D; Driscoll D A; Emanuel B S
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene.
Nature genetics 1995;10(3):269-78.
1995: Lynch D R; McDonald-McGinn D M; Zackai E H; Emanuel B S; Driscoll D A; Whitaker L A; Fischbeck K H
Cerebellar atrophy in a patient with velocardiofacial syndrome.
Journal of medical genetics 1995;32(7):561-3.
1995: Robin N H; Sellinger B; McDonald-McGinn D; Zackai E H; Emanuel B S; Driscoll D A
Classical Noonan syndrome is not associated with deletions of 22q11.
American journal of medical genetics 1995;56(1):94-6.
1994: Hudson T J; Colbert A M; Reeve M P; Bae J S; Lee M K; Nussbaum R L; Budarf M L; Emanuel B S; Foote S
Isolation and regional mapping of 110 chromosome 22 STSs.
Genomics 1994;24(3):588-92.
1994: Reeser S L; Donnenfeld A E; Miller R C; Sellinger B S; Emanuel B S; Driscoll D A
Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization.
Prenatal diagnosis 1994;14(11):1029-34.
1994: Giovannini M; Biegel J A; Serra M; Wang J Y; Wei Y H; Nycum L; Emanuel B S; Evans G A
EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and primitive neuroectodermal tumors with variant translocations.
The Journal of clinical investigation 1994;94(2):489-96.
1994: Mears A J; Duncan A M; Budarf M L; Emanuel B S; Sellinger B; Siegel-Bartelt J; Greenberg C R; McDermid H E
Molecular characterization of the marker chromosome associated with cat eye syndrome.
American journal of human genetics 1994;55(1):134-42.
1994: Biegel J A; Parmiter A H; Sutton L N; Rorke L B; Emanuel B S
Abnormalities of chromosome 22 in pediatric meningiomas.
Genes, chromosomes & cancer 1994;9(2):81-7.
1994: McDermid H E; Emanuel B S
Mapping of the human lambda immunoglobulin variable gene subgroup 1.
Immunogenetics 1994;40(3):177-83.
1993: Wilson T A; Blethen S L; Vallone A; Alenick D S; Nolan P; Katz A; Amorillo T P; Goldmuntz E; Emanuel B S; Driscoll D A
DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.
American journal of medical genetics 1993;47(7):1078-82.
1993: Galili N; Davis R J; Fredericks W J; Mukhopadhyay S; Rauscher F J; Emanuel B S; Rovera G; Barr F G
Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.
Nature genetics 1993;5(3):230-5.
1993: McDermid H E; Budarf M L; Emanuel B S
Long-range restriction map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint.
Genomics 1993;18(2):308-18.
1993: Driscoll D A; Salvin J; Sellinger B; Budarf M L; McDonald-McGinn D M; Zackai E H; Emanuel B S
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
Journal of medical genetics 1993;30(10):813-7.
1993: Goldmuntz E; Driscoll D; Budarf M L; Zackai E H; McDonald-McGinn D M; Biegel J A; Emanuel B S
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
Journal of medical genetics 1993;30(10):807-12.
1993: Bucan M; Gatalica B; Nolan P; Chung A; Leroux A; Grossman M H; Nadeau J H; Emanuel B S; Budarf M
Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse.
Human molecular genetics 1993;2(8):1245-52.
1993: Barr F G; Galili N; Holick J; Biegel J A; Rovera G; Emanuel B S
Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.
Nature genetics 1993;3(2):113-7.
1993: Biegel J A; White P S; Marshall H N; Fujimori M; Zackai E H; Scher C D; Brodeur G M; Emanuel B S
Constitutional 1p36 deletion in a child with neuroblastoma.
American journal of human genetics 1993;52(1):176-82.
1993: Kaplan F S; Murray J; Sylvester J E; Gonzalez I L; O'Connor J P; Doering J L; Muenke M; Emanuel B S; Zasloff M A
The topographic organization of repetitive DNA in the human nucleolus.
Genomics 1993;15(1):123-32.
1993: Emanuel B S; Driscoll D; Goldmuntz E; Baldwin S; Biegel J; Zackai E H; McDonald-McGinn D; Sellinger B; Gorman N; Williams S
Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes.
Progress in clinical and biological research 1993;384():207-24.
1992: Ramos F J; McDonald-McGinn D M; Emanuel B S; Zackai E H
Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.
American journal of medical genetics 1992;44(6):790-4.
1992: Giovannini M; Selleri L; Biegel J A; Scotlandi K; Emanuel B S; Evans G A
Interphase cytogenetics for the detection of the t(11;22)(q24;q12) in small round cell tumors.
The Journal of clinical investigation 1992;90(5):1911-8.
1992: Biegel J A; Burk C D; Parmiter A H; Emanuel B S
Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor.
Genes, chromosomes & cancer 1992;5(2):104-8.
1992: Barr F G; Holick J; Nycum L; Biegel J A; Emanuel B S
Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2.
Genomics 1992;13(4):1150-6.
1992: Chang Y J; McCabe R T; Rennert H; Budarf M L; Sayegh R; Emanuel B S; Skolnick P; Strauss J F
The human "peripheral-type" benzodiazepine receptor: regional mapping of the gene and characterization of the receptor expressed from cDNA.
DNA and cell biology 1992;11(6):471-80.
1992: Biegel J A; Burk C D; Barr F G; Emanuel B S
Evidence for a 17p tumor related locus distinct from p53 in pediatric primitive neuroectodermal tumors.
Cancer research 1992;52(12):3391-5.
1992: Biegel J A; Perilongo G; Rorke L B; Parmiter A H; Emanuel B S
Malignant fibrous histiocytoma of the brain in a six-year-old girl.
Genes, chromosomes & cancer 1992;4(4):309-13.
1992: Driscoll D A; Budarf M L; Emanuel B S
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.
American journal of human genetics 1992;50(5):924-33.
1992: Stambolian D; Sellinger B; Derrington D; Sargent R; Emanuel B S
Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma.
American journal of medical genetics 1992;42(6):771-6.
1992: Ramos F J; Emanuel B S; Spinner N B
Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome.
American journal of medical genetics 1992;42(6):835-8.
1992: Rose N C; Menacker S J; Schnur R E; Jackson L; McDonald-McGinn D M; Stump T; Emanuel B S; Zackai E H
Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?
American journal of medical genetics 1992;42(5):700-5.
1991: Barr F G; Sellinger B; Emanuel B S
Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13.
Genomics 1991;11(4):941-7.
1991: Biegel J A; Meek R S; Parmiter A H; Conard K; Emanuel B S
Chromosomal translocation t(1;13)(p36;q14) in a case of rhabdomyosarcoma.
Genes, chromosomes & cancer 1991;3(6):483-4.
1991: Budarf M L; McDermid H E; Sellinger B; Emanuel B S
Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22.
Genomics 1991;10(4):996-1002.
1991: Rose N C; Schneider A; McDonald-McGinn D M; Caserta C; Emanuel B S; Zackai E H
Interstitial deletion of 4(q21q25) in a liveborn male.
American journal of medical genetics 1991;40(1):77-9.
1991: Gutmann D H; Brooks M L; Emanuel B S; McDonald-McGinn D M; Zackai E H
Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.
American journal of medical genetics 1991;39(2):167-9.
1991: Barr F G; Biegel J A; Sellinger B; Womer R B; Emanuel B S
Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma.
Genes, chromosomes & cancer 1991;3(2):153-61.
1991: Tabas J A; Zasloff M; Wasmuth J J; Emanuel B S; Altherr M R; McPherson J D; Wozney J M; Kaplan F S
Bone morphogenetic protein: chromosomal localization of human genes for BMP1, BMP2A, and BMP3.
Genomics 1991;9(2):283-9.
1990: Biegel J A; Rorke L B; Packer R J; Emanuel B S
Monosomy 22 in rhabdoid or atypical tumors of the brain.
Journal of neurosurgery 1990;73(5):710-4.
1990: Budarf M; Huebner K; Emanuel B; Croce C M; Copeland N G; Jenkins N A; D'Andrea A D
Assignment of the erythropoietin receptor (EPOR) gene to mouse chromosome 9 and human chromosome 19.
Genomics 1990;8(3):575-8.
1990: Donnenfeld A E; Graham J M; Packer R J; Aquino R; Berg S Z; Emanuel B S
Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization.
American journal of medical genetics 1990;37(2):182-6.
1990: Neidich J A; Nussbaum R L; Packer R J; Emanuel B S; Puck J M
Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome.
The Journal of pediatrics 1990;116(6):911-7.
1990: Fibison W J; Budarf M; McDermid H; Greenberg F; Emanuel B S
Molecular studies of DiGeorge syndrome.
American journal of human genetics 1990;46(5):888-95.
1989: Biegel J A; Rorke L B; Packer R J; Sutton L N; Schut L; Bonner K; Emanuel B S
Isochromosome 17q in primitive neuroectodermal tumors of the central nervous system.
Genes, chromosomes & cancer 1989;1(2):139-47.
1989: Budarf M; Sellinger B; Griffin C; Emanuel B S
Comparative mapping of the constitutional and tumor-associated 11;22 translocations.
American journal of human genetics 1989;45(1):128-39.
1989: Donnenfeld A E; Packer R J; Zackai E H; Chee C M; Sellinger B; Emanuel B S
Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.
American journal of medical genetics 1989;32(4):461-7.
1989: Biegel J A; Womer R B; Emanuel B S
Complex karyotypes in a series of pediatric osteosarcomas.
Cancer genetics and cytogenetics 1989;38(1):89-100.
1989: Budarf M; Emanuel B S; Mohandas T; Goeddel D V; Lowe D G
Human differentiation-stimulating factor (leukemia inhibitory factor, human interleukin DA) gene maps distal to the Ewing sarcoma breakpoint on 22q.
Cytogenetics and cell genetics 1989;52(1-2):19-22.
1988: Biegel J A; Belasco J B; Emanuel B S
A unique chromosome translocation, t(7;15), in a pediatric patient with pre-B-cell lymphoma presenting as a primary tumor of bone.
Cancer genetics and cytogenetics 1988;36(2):211-5.
1988: Stambolian D; Quinn G; Emanuel B S; Zackai E
Congenital glaucoma associated with a chromosomal abnormality.
American journal of ophthalmology 1988;106(5):625-7.
1988: Emanuel B S
Molecular cytogenetics: toward dissection of the contiguous gene syndromes.
American journal of human genetics 1988;43(5):575-8.
1988: Budarf M; Canaani E; Emanuel B S
Linear order of the four BCR-related loci in 22q11.
Genomics 1988;3(2):168-71.
1988: Münke M; Emanuel B S; Zackai E H
Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature.
American journal of medical genetics 1988;30(4):929-38.
1988: Sosnoski D M; Emanuel B S; Hawkins A L; van Tuinen P; Ledbetter D H; Nussbaum R L; Kaos F T; Schwartz E; Phillips D; Bennett J S
Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa.
The Journal of clinical investigation 1988;81(6):1993-8.
1988: Smith M; Weiss M J; Griffin C A; Murray J C; Buetow K H; Emanuel B S; Henthorn P S; Harris H
Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34.
Genomics 1988;2(2):139-43.
1988: Griffin C A; Hawkins A L; Packer R J; Rorke L B; Emanuel B S
Chromosome abnormalities in pediatric brain tumors.
Cancer research 1988;48(1):175-80.
1987: Griffin C A; Smith M; Henthorn P S; Harris H; Weiss M J; Raducha M; Emanuel B S
Human placental and intestinal alkaline phosphatase genes map to 2q34-q37.
American journal of human genetics 1987;41(6):1025-34.
1987: Spinner N B; Emanuel B S; Vonderheid E C; Nowell P C
Chronic myelomonocytic leukemia in a patient with a familial t(6;16)(q13;q22) translocation.
Cancer genetics and cytogenetics 1987;29(1):159-64.
1987: Donnenfeld A E; Zackai E H; McDonald D M; Aquino R; Emanuel B S
De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
Journal of medical genetics 1987;24(7):436-9.
1984: Nowell P C; Emanuel B S; Finan J B; Erikson J; Croce C M
Chromosome rearrangements in oncogenesis.
Microbiological sciences 1984;1(9):223-8.

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