B. Emanuel

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The DNA sequence of human chromosome 22

Melanie E. Goward, Antony V. Cox, R. Durbin, 1999, Nature.

Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome.

E. Zackai, C. Bearden, A. Jawad, 2004, The American journal of psychiatry.

Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1----q11.2.

B. Emanuel, M. Budarf, M. Grossman, 1992, Genomics.

22q11.2 deletion syndrome.

Peter J. Scambler, Lauren A. Bohm, Anne S. Bassett, 2015, Nature reviews. Disease primers.

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

Stephen T Warren, Somayyeh Fahiminiya, E. Zackai, 2012, Journal of Medical Genetics.

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

E. Zackai, B. Morrow, K. Devriendt, 2017, American journal of human genetics.

VEGF: A modifier of the del22q11 (DiGeorge) syndrome?

Ingeborg Stalmans, Marc Gewillig, Beverly Emanuel, 2003, Nature Medicine.

Segmental duplications: an 'expanding' role in genomic instability and disease

Tamim H. Shaikh, T. Shaikh, B. Emanuel, 2001, Nature Reviews Genetics.

Localization of gene for human p53 tumour antigen to band 17p13

M. Isobe, C. Croce, D. Givol, 1986, Nature.

Chronic myelomonocytic leukemia in a patient with a familial t(6;16)(q13;q22) translocation.

P. Nowell, N. Spinner, B. Emanuel, 1987, Cancer genetics and cytogenetics.

The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome.

Sunny X. Tang, E. Zackai, R. Gur, 2017, Journal of psychiatric research.

in the human genome Systematic prediction and validation of breakpoints associated with copy-number variants

Alexander Eckehart Urban, Thomas E. Royce, Mark B Gerstein, 2007 .

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays.

Alexander Eckehart Urban, Mark B Gerstein, Todd Richmond, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Disrupted anatomic networks in the 22q11.2 deletion syndrome

E. Zackai, R. Gur, R. Gur, 2016, NeuroImage: Clinical.

Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization

B. Emanuel, D. Driscoll, Robert C. Miller, 1994, Prenatal diagnosis.

Deletion Syndrome

Celso, Naomi J. Goodrich-Hunsaker, Arango, 2019 .

Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study

Paul M. Thompson, Christopher R. K. Ching, Neda Jahanshad, 2019, Molecular Psychiatry.

Human urokinase gene is located on the long arm of chromosome 10.

P. Verde, B. Emanuel, F. Blasi, 1985, Proceedings of the National Academy of Sciences of the United States of America.

Association of Mitochondrial Biogenesis With Variable Penetrance of Schizophrenia.

E. Zackai, R. Gur, T. Moore, 2021, JAMA psychiatry.

Deregulation of c-myc by translocation of the alpha-locus of the T-cell receptor in T-cell leukemias.

P. Nowell, C. Croce, B. Emanuel, 1986, Science.

Translocation of an immunoglobulin kappa locus to a region 3' of an unrearranged c-myc oncogene enhances c-myc transcription.

P. Nowell, C. Croce, B. Emanuel, 1983, Proceedings of the National Academy of Sciences of the United States of America.

Association of amplified oncogene c-myc with an abnormally banded chromosome 8 in a human leukaemia cell line

P. Nowell, B. Emanuel, H. Romanczuk, 1983, Nature.

Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint.

T. Shaikh, B. Emanuel, H. Kurahashi, 2000, Human Molecular Genetics.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Robert W. Mills, A J Agopian, Jonathan H. Chung, 2017, Circulation. Cardiovascular genetics.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

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.

B. Roe, F. Chen, A. Hua, 2000, Genomics.

Sequence-ready physical map of the mouse Chromosome 16 region with conserved synteny to the human Velocardiofacial syndrome region on 22q11.2

B. Roe, F. Chen, J. Lund, 1999, Mammalian Genome.

Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

E. Zackai, N. Spinner, K. Woodward, 2000, American journal of human genetics.

Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13.

W. Cavenee, B. Emanuel, C. Griffin, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).

B. Emanuel, M. Budarf, J. Christodoulou, 1999, American journal of medical genetics.

Cerebellar atrophy in a patient with velocardiofacial syndrome.

E. Zackai, K. Fischbeck, B. Emanuel, 1995, Journal of medical genetics.

The topographic organization of repetitive DNA in the human nucleolus.

J. Murray, B. Emanuel, M. Muenke, 1993, Genomics.

Circulating myeloid and lymphoid precursor dendritic cells are clonally involved in myelodysplastic syndromes

A. Hagemeijer, B. Emanuel, P. Vandenberghe, 2004, Leukemia.

A Dynamic Database of Microarray-Characterized Cell Lines with Various Cytogenetic and Genomic Backgrounds

N. Gerry, S. Kulkarni, C. Martin, 2013, G3: Genes, Genomes, Genetics.

22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

B. Emanuel, E. Goldmuntz, L. E. Mitchell, 2013, Pediatric Cardiology.

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.

D. Ledbetter, B. Emanuel, W. Dobyns, 1991, American journal of human genetics.

Evidence for a 17p tumor related locus distinct from p53 in pediatric primitive neuroectodermal tumors.

J. Biegel, B. Emanuel, F. Barr, 1992, Cancer research.

Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.

E. Zackai, D. Gutmann, B. Emanuel, 1991, American journal of medical genetics.

Syndrome/Velocardiofacial Syndrome) Syndrome (DiGeorge Life in Chromosome 22q11.2 Deletion Function and Numbers in the First Year of Longitudinal Analysis of Lymphocyte

E. Zackai, B. Emanuel, 2013 .

Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

E. Zackai, K. Sullivan, B. Emanuel, 1998, Clinical Diagnostic Laboratory Immunology.

Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing

Eli J. Cornblath, E. Zackai, R. Gur, 2021, Molecular Psychiatry.

Antenatal diagnosis of DiGeorge syndrome

B. Emanuel, M. Budarf, D. Driscoll, 1991, The Lancet.

Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2012, American journal of medical genetics. Part A.

Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence.

E. Zackai, B. Clark, B. Emanuel, 1997, Pediatrics.

DiGeorge and velocardiofacial syndromes: The 22q11 deletion syndrome

B. Emanuel, D. Driscoll, 1996 .

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

E. Zackai, B. Emanuel, D. McDonald-McGinn, 1996, American journal of medical genetics.

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

E. Zackai, R. Gur, K. Sullivan, 2018, American journal of medical genetics. Part A.

Monosomy 22 in rhabdoid or atypical tumors of the brain.

J. Biegel, L. Rorke, B. Emanuel, 1990, Journal of neurosurgery.

Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor

J. Biegel, B. Emanuel, C. Burk, 1992, Genes, chromosomes & cancer.

White matter microstructural deficits in 22q11.2 deletion syndrome

E. Zackai, R. Gur, R. Gur, 2017, Psychiatry Research: Neuroimaging.

Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness.

Dmitry Isaev, Kosha Ruparel, Eileen Daly, 2020, The American journal of psychiatry.

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

E. Zackai, R. Gur, D. Heine-Suñer, 2018, American journal of medical genetics. Part A.

Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size

Paul M. Thompson, Jessica A. Turner, Christopher R. K. Ching, 2018, Molecular Psychiatry.

Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing

Eli J. Cornblath, E. Zackai, D. Bassett, 2020, Biological Psychiatry.

Clonal chromosome rearrangements in a uterine myoma.

B. Emanuel, C. Griffin, Z. Gibas, 1988, Cancer genetics and cytogenetics.

Translocation (X;18) in a synovial sarcoma.

B. Emanuel, C. Griffin, 1987, Cancer genetics and cytogenetics.

Actively transcribed genes in the raf oncogene group, located on the X chromosome in mouse and human.

T. Bonner, M. Isobe, K. Huebner, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Frequency of 22q11 deletions in patients with conotruncal defects.

E. Zackai, B. Clark, A. Jawad, 1998, Journal of the American College of Cardiology.

A human c-erbA oncogene homologue is closely proximal to the chromosome 17 breakpoint in acute promyelocytic leukemia.

P. Nowell, C. Croce, B. Emanuel, 1984, Proceedings of the National Academy of Sciences of the United States of America.

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.

A J Agopian, E. Zackai, M. Owen, 2019, American journal of human genetics.

Abnormalities of chromosome 22 in pediatric meningiomas

L. Rorke, B. Emanuel, L. Sutton, 1994, Genes, chromosomes & cancer.

Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma.

B. Emanuel, D. Stambolian, D. Derrington, 1992, American journal of medical genetics.

Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome

Sunny X. Tang, E. Zackai, R. Gur, 2018, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

E. Zackai, B. Emanuel, M. Budarf, 1993, Journal of medical genetics.

Structural analysis of the human pro-apoptotic gene Bik: chromosomal localization, genomic organization and localization of promoter sequences.

B. Emanuel, M. Budarf, S. Verma, 2000, Gene.

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome

E. Zackai, B. Weber, J. Greshock, 2005, Journal of Medical Genetics.

Pre- and postconception factors associated with sporadic heritable and nonheritable retinoblastoma.

J. Buckley, W. Woods, B. Emanuel, 1989, Cancer research.

Corrigendum: Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma

B. Emanuel, F. Barr, G. Rovera, 1994, Nature Genetics.

A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2.

T. Shaikh, A. Gotter, B. Emanuel, 2004, Human molecular genetics.

Comparative mapping of the constitutional and tumor-associated 11;22 translocations.

B. Emanuel, M. Budarf, C. Griffin, 1989, American journal of human genetics.

Chromosomal orientation of the lambda light chain locus: Vλ is proximal to Cλ in 22q11

P. Nowell, C. Croce, B. Emanuel, 1985 .

The 2p breakpoint of a 2;8 translocation in Burkitt lymphoma interrupts the V kappa locus.

P. Nowell, C. Croce, S. Jhanwar, 1984, Proceedings of the National Academy of Sciences of the United States of America.

Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.

E. Zackai, B. Emanuel, R. Packer, 1989, American journal of medical genetics.

Chromosome 22q11 Deletion in Patients with Truncus Arteriosus

B. Emanuel, D. Driscoll, E. Goldmuntz, 2003, Pediatric Cardiology.

Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies.

A. Jawad, B. Emanuel, D. Driscoll, 2003, Pediatrics.

Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22.

B. Emanuel, M. Budarf, B. Sellinger, 1991, Genomics.

Molecular and cytogenetic studies of a patient with philadelphia‐negative, BCR‐positive chronic myeloid leukemia and t(12;12)(q13;p12)

C. Peschle, B. Emanuel, M. Budarf, 1990, Genes, chromosomes & cancer.

Assignment of the human intestinal Na+/glucose cotransporter gene (SGLT1) to the q11.2----qter region of chromosome 22.

T. Mohandas, E. Wright, M. Hediger, 1989, Genomics.

Chromosomal localization of human collagen genes.

B. Emanuel, J. Myers, B. Emanuel, 1987, Collagen and related research.

Heterogeneity of chromosome 22 breakpoint in Philadelphia-positive (Ph+) acute lymphocytic leukemia.

P. Nowell, J. Hoxie, C. Croce, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Frequency of 13q abnormalities among 203 patients with retinoblastoma.

J. Buckley, W. Woods, B. Emanuel, 1989, Journal of the National Cancer Institute.

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

Marilyn M. Li, B. Emanuel, M. Nimmakayalu, 2008, American journal of medical genetics. Part A.

Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

E. Zackai, B. Emanuel, M. Budarf, 2001, Journal of medical genetics.

The human VpreB gene is located on chromosome 22 near a cluster of $${\text{V}}_{\lambda _1 } $$ gene segments

P. Nowell, C. Croce, K. Huebner, 2004, Immunogenetics.

The breakpoint in 22q11 in a case of Ph-positive acute lymphocytic leukemia interrupts the immunoglobulin light chain gene cluster.

P. Nowell, C. Croce, B. Emanuel, 1985, Cancer genetics and cytogenetics.

The 22q11 low copy repeats are characterized by unprecedented size and structural variability.

T. Shaikh, P. Kwok, M. Xiao, 2019, Genome research.

Prevalence of 22 q 1 1 microdeletions in DiGeorge and velocardiofacial syndromes : implications for genetic counselling and prenatal diagnosis

E. Zackai, B. Emanuel, M. Budarf, 2022 .

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!

E. Zackai, B. Emanuel, D. Driscoll, 2001, Genetics in Medicine.

Myoclonus in a patient with a deletion of the ε‐sarcoglycan locus on chromosome 7q21

E. Zackai, R. Deberardinis, B. Emanuel, 2003 .

Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States

Deanne M. Taylor, H. Hakonarson, B. Morrow, 2021, Genes.

A binational study assessing risk and resilience factors in 22q11.2 deletion syndrome.

E. Zackai, R. Gur, R. Gur, 2021, Journal of psychiatric research.

The 22q11 Deletion

B. Emanuel, D. Driscoll, 1998 .

Nasal dimple as part of the 22q11.2 deletion syndrome.

E. Zackai, B. Emanuel, K. Gripp, 1997, American journal of medical genetics.

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.

E. Zackai, R. Markowitz, B. Clark, 1997, Genetic testing.

Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes.

E. Zackai, B. Emanuel, D. Driscoll, 1993, Progress in clinical and biological research.

Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome.

R. Nussbaum, J. Puck, B. Emanuel, 1990, The Journal of pediatrics.

Further evidence for Xp21 location of Duchenne muscular dystrophy (DMD) locus: X;9 translocation in a female with DMD.

E. Zackai, B. Emanuel, S. H. Tucker, 1983, Journal of medical genetics.

Abstracts for the committee on the genetic constitution of chromosome 1

Brien, J. Beckmann, K. Kidd, 1991 .

IQ and hemizygosity for the Val158Met functional polymorphism of COMT in 22q11DS

E. Zackai, R. Gur, M. Devoto, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Molecular genetic defects and cardiac morphogenesis

B. Emanuel, E. Goldmuntz, 1996 .

Human histone genes map to multiple chromosomes.

G. Stein, C. Croce, B. Emanuel, 1986, Proceedings of the National Academy of Sciences of the United States of America.

An improved method for G-banding chromosomes after in situ hybridization.

B. Emanuel, L. Cannizzaro, 1984, Cytogenetics and cell genetics.

High‐Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome

E. Rappaport, J. Graham, B. Emanuel, 2011, Human mutation.

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.

J. Graham, B. Emanuel, R. Packer, 1990, American journal of medical genetics.

Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.

E. Zackai, R. Deberardinis, B. Emanuel, 2003, American journal of medical genetics. Part A.

Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.

E. Zackai, R. Gur, R. Gur, 2020, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Double Strand Breaks (DSBs) as Indicators of Genomic Instability in PATRR-mediated Translocations.

B. Emanuel, E. Mlynarski, B. Lilley, 2020, Human molecular genetics.

Cytogenetics and Cell Genetics

D. Cox, T. Mohandas, C. Disteche, 1986 .

Chromosomal Translocation t(1;13)(p36;q14) in a Case of Rhabdomyosarcoma

J. Biegel, B. Emanuel, K. Conard, 1991, Genes, chromosomes & cancer.

Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.

B. Emanuel, M. I. Melaragno, M. Cernach, 2008, European journal of medical genetics.

Complex karyotypes in a series of pediatric osteosarcomas.

B. Emanuel, R. Womer, J. Biegel, 1989, Cancer genetics and cytogenetics.

De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.

E. Zackai, B. Emanuel, A. Donnenfeld, 1987, Journal of medical genetics.

A catalog of hemizygous variation in 127 22q11 deletion patients

E. Zackai, R. Gur, S. Warren, 2016, Human Genome Variation.

A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: Fluorescence in situ hybridization and dosage-sensitive Southern blot analysis

E. Zackai, S. Bartlett, B. Emanuel, 2001, Genetics in Medicine.

Report of the third international workshop on human chromosome 22 mapping.

R. Nussbaum, K. Buetow, P. Scambler, 1993, Cytogenetics and cell genetics.

Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2.

J. Seyer, B. Emanuel, J. Myers, 1985, Proceedings of the National Academy of Sciences of the United States of America.

Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males

B. Emanuel, H. Kurahashi, 2001, Nature Genetics.

Assignment of the erythropoietin receptor (EPOR) gene to mouse chromosome 9 and human chromosome 19.

C. Croce, K. Huebner, N. Copeland, 1990, Genomics.

Cytogenetic and endocrine findings in a female with 45, X, t(Y;18) (p11;p11)

B. Emanuel, A. Tenore, J. Parks, 1981, Clinical genetics.

The human "peripheral-type" benzodiazepine receptor: regional mapping of the gene and characterization of the receptor expressed from cDNA.

P. Skolnick, B. Emanuel, M. Budarf, 1992, DNA and cell biology.

Amplified C lambda and c-abl genes are on the same marker chromosome in K562 leukemia cells.

P. Nowell, A. Palumbo, C. Croce, 1983, Proceedings of the National Academy of Sciences of the United States of America.

Congenital heart disease in supernumerary der(22), t(11;22) syndrome

E. Zackai, B. Emanuel, A. Lin, 1986, Clinical genetics.

Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated

Sunny X. Tang, E. Zackai, R. Gur, 2013, Psychological Medicine.

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion

E. Zackai, K. Fischbeck, B. Emanuel, 1991, Annals of neurology.

Human placental and intestinal alkaline phosphatase genes map to 2q34-q37.

H. Harris, B. Emanuel, M. Weiss, 1987, American journal of human genetics.

In situ hybridization and translocation breakpoint mapping

P. Nowell, C. Croce, B. Emanuel, 1985 .

Report of the committee on chromosome and gene loss in human neoplasia

C. Junien, M. L. Beau, S. Naylor, 1991 .

Abstracts of workshop presentations pp. 1106-1116

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

Isochromosome 17q in primitive neuroectodermal tumors of the central nervous system

J. Biegel, L. Rorke, B. Emanuel, 1989, Genes, chromosomes & cancer.

Translocation breakpoint mapping: molecular and cytogenetic studies of chromosome 22.

P. Nowell, C. Croce, M. Israel, 1986, Cancer genetics and cytogenetics.

Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2.

J. Biegel, B. Emanuel, F. Barr, 1992, Genomics.

N-myc amplification in multiple homogeneously staining regions in two human neuroblastomas.

B. Emanuel, M. Glick, M. Negishi, 1985, Proceedings of the National Academy of Sciences of the United States of America.

Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

E. Zackai, B. Morrow, B. Emanuel, 2018, Human molecular genetics.

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

E. Zackai, B. Emanuel, R. Kelley, 1982, The Journal of pediatrics.

Bone morphogenetic protein: chromosomal localization of human genes for BMP1, BMP2A, and BMP3.

J. McPherson, B. Emanuel, J. Wasmuth, 1991, Genomics.

Malignant fibrous histiocytoma of the brain in a six‐year‐old girl

J. Biegel, L. Rorke, B. Emanuel, 1992, Genes, chromosomes & cancer.

Linear order of the four BCR-related loci in 22q11.

B. Emanuel, M. Budarf, E. Canaani, 1988, Genomics.

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.

R. Nickel, B. Emanuel, D. Driscoll, 1994, American journal of medical genetics.

The 22q11.2 deletion in African‐American patients: An underdiagnosed population?

E. Zackai, A. Jawad, B. Emanuel, 2005, American journal of medical genetics. Part A.

Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype.

E. Zackai, B. Emanuel, S. Weinzimer, 1998, Pediatrics.

Skeletal anomalies and deformities in patients with deletions of 22q11.

E. Zackai, R. Markowitz, B. Emanuel, 1997, American journal of medical genetics.

Classical Noonan syndrome is not associated with deletions of 22q11.

E. Zackai, B. Emanuel, D. Driscoll, 1995, American journal of medical genetics.

"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?

B. Emanuel, D. Driscoll, A. Lipson, 1994, Journal of medical genetics.

Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome.

R. Matalon, B. Emanuel, D. Driscoll, 1997, American journal of medical genetics.

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

E. Zackai, J. Biegel, B. Emanuel, 1993, Journal of medical genetics.

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

B. Emanuel, M. Budarf, D. Driscoll, 1992, American journal of human genetics.

Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34.

K. Buetow, H. Harris, B. Emanuel, 1988, Genomics.

Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.

B. Roe, L. Silver, B. Emanuel, 1997, Genomics.

Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics

Courtney A. Durdle, E. Zackai, M. Owen, 2021, Cerebral cortex.

Regional Brain Abnormalities in 22q11.2 Deletion Syndrome: Association With Cognitive Abilities and Behavioral Symptoms

Tyrone D. Cannon, Nicole M. Hill, E. Zackai, 2004, Neurocase.

Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa.

D. Ledbetter, R. Nussbaum, B. Emanuel, 1988, The Journal of clinical investigation.

Chromosome abnormalities in pediatric brain tumors.

L. Rorke, B. Emanuel, C. Griffin, 1988, Cancer research.

Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?

E. Zackai, B. Emanuel, R. Schnur, 1992, American journal of medical genetics.

A (14;20) translocation, unbalanced, from a subject with severe congenital anomalies. Respository identification No. GM-981.

E. Zackai, B. Emanuel, A. Greene, 1978, Cytogenetics and cell genetics.

Human central nervous system primitive neuroectodermal tumor expressing nerve growth factor receptors: CHP707M

J. Biegel, B. Emanuel, S. Pleasure, 1990, Annals of neurology.

Comparison of constitutional and tumor-associated 11;22 translocations: nonidentical breakpoints on chromosomes 11 and 22.

M. Israel, B. Emanuel, C. Griffin, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Abstracts for the committee on the genetic constitution of the X chromosome (Part 3 of 3)

Brien, J. Beckmann, K. Kidd, 1991 .

The role of cytologic NOR variants in the etiology of trisomy 21.

E. Zackai, N. Spinner, B. Emanuel, 1989, American journal of human genetics.

Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm.

B. Emanuel, H. Kurahashi, H. Kogo, 2007, Fertility and sterility.

Segmental Duplications and Genetic Disease

T. Shaikh, B. Emanuel, 2006 .

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.

B. Roe, E. Zackai, T. Shaikh, 2000, Human molecular genetics.

Deletions and Other Structural Abnormalities of the Autosomes

N. Spinner, B. Emanuel, L. Conlin, 2013 .

Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders?

B. Emanuel, M. Budarf, B. Emanuel, 1997, Human molecular genetics.

Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma

B. Emanuel, F. Barr, G. Rovera, 1993, Nature Genetics.

Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma

J. Biegel, B. Emanuel, F. Barr, 1993, Nature Genetics.

Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22).

B. Emanuel, H. Kurahashi, L. Anderson, 2006, American journal of human genetics.

Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region.

T. Hudson, C. Bell, B. Emanuel, 1994, Genome research.

Molecular characterization of the marker chromosome associated with cat eye syndrome.

B. Emanuel, M. Budarf, H. McDermid, 1994, American journal of human genetics.

Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

Courtney A. Durdle, Dan J Stein, Thomas W. Mühleisen, 2021, Human brain mapping.

Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints

B. Emanuel, M. Budarf, D. Driscoll, 1998, Cytogenetic and Genome Research.

Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.

Jonathan H. Chung, E. Zackai, K. Coleman, 2015, American journal of human genetics.

The 22q11.2 deletion syndrome.

E. Zackai, N. Philip, B. Emanuel, 2001, Advances in pediatrics.

A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.

B. Roe, F. Chen, Z. Wang, 1996, Human molecular genetics.

EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and primitive neuroectodermal tumors with variant translocations.

G. Evans, J. Biegel, M. Giovannini, 1994, The Journal of clinical investigation.

Interrupted aortic arch type B in A patient with cat eye syndrome.

B. Emanuel, M. Cernach, S. Belangero, 2009, Arquivos brasileiros de cardiologia.

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

B. Emanuel, S. Saitta, 2007, Nature Reviews Genetics.

A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies.

A. Gotter, L. Medne, B. Emanuel, 2007, Genome research.

Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.

E. Zackai, T. Shaikh, B. Emanuel, 1999, American journal of human genetics.

Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome.

N. Spinner, B. Emanuel, F. Ramos, 1992, American journal of medical genetics.

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review

T. Shaikh, B. Emanuel, H. Kurahashi, 2001, Genetics in Medicine.

Location of gene for beta subunit of human T-cell receptor at band 7q35, a region prone to rearrangements in T cells.

P. Nowell, M. Isobe, C. Croce, 1985, Science.

The Genetic Basis of Conotruncal Cardiac Defects

P. Scambler, B. Emanuel, M. Budarf, 1999 .

Genetic disorders of cardiac morphogenesis. The DiGeorge and velocardiofacial syndromes.

B. Emanuel, E. Goldmuntz, B. Emanuel, 1997, Circulation research.

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

B. Roe, B. Emanuel, M. Budarf, 1995, Nature Genetics.

A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.

B. Roe, J. Lund, C. Mickanin, 1997, Genome research.

Constitutional 1p36 deletion in a child with neuroblastoma.

E. Zackai, J. Biegel, B. Emanuel, 1993, American journal of human genetics.

Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families.

E. Zackai, B. Emanuel, J. Gorski, 1988, American journal of medical genetics.

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

T. Shaikh, P. Kwok, M. Xiao, 2018, bioRxiv.

Lack of Correlation between Impaired T Cell Production, Immunodeficiency, and Other Phenotypic Features in Chromosome 22q11.2 Deletion Syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome)

E. Zackai, A. Jawad, K. Sullivan, 1998 .

A 14;18 and an 8;14 chromosome translocation in a cell line derived from an acute B-cell leukemia.

P. Nowell, A. Palumbo, C. Croce, 1984, Proceedings of the National Academy of Sciences of the United States of America.

Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel.

K. Buetow, J. Dumanski, C. Bell, 1996, Genomics.

Long-range restriction map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint.

B. Emanuel, M. Budarf, H. McDermid, 1993, Genomics.

A map of 22 loci on human chromosome 22.

P. O'Connell, R. Wolff, J. Dumanski, 1991, Genomics.

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.

A. Auton, T. Werge, E. Zackai, 2013, American journal of human genetics.

Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR)

Deanne M. Taylor, E. Zackai, M. Xiao, 2020, Scientific Reports.

Molecular genetics of 22q11.2 deletion syndrome

B. Morrow, P. Scambler, J. Vermeesch, 2018, American journal of medical genetics. Part A.

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2

E. Zackai, C. Marshall, D. Zheng, 2018, Human molecular genetics.

Performance on a computerized neurocognitive battery in 22q11.2 deletion syndrome: A comparison between US and Israeli cohorts

E. Zackai, R. Gur, R. Gur, 2016, Brain and Cognition.

Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome

David R. Roalf, Kosha Ruparel, Ruben C. Gur, 2015, Biological Psychiatry.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Stephan Eliez, Tingwei Guo, Xiaowu Gai, 2015, American journal of human genetics.

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

Jonathan H. Chung, E. Zackai, B. Morrow, 2015, American journal of human genetics.

Incidental Radiologic Findings in the 22q11.2 Deletion Syndrome

E. Zackai, R. Gur, R. Gur, 2014, American Journal of Neuroradiology.

Hemizygous mutations in SNAP 29 unmask autosomal recessive conditions and contribute to atypical fi ndings in patients with 22 q 11 . 2 DS

E. Zackai, S. Warren, J. Vermeesch, 2013 .

Chromosomal translocations and palindromic AT-rich repeats.

B. Emanuel, H. Kurahashi, Takema Kato, 2012, Current opinion in genetics & development.

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm.

B. Emanuel, H. Kurahashi, M. Tsutsumi, 2010, Human molecular genetics.

Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT158 Allele

B. Turetsky, H. Engeland, R. Kahn, 2009, Neuropsychopharmacology.

Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia

R. Kahn, R. Sinke, B. Emanuel, 2008, Schizophrenia Research.

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.

B. Emanuel, 2008, Developmental disabilities research reviews.

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.

T. Shaikh, B. Emanuel, S. Saitta, 2007, Genome research.

Molecular cloning of a translocation breakpoint hotspot in 22q11.

B. Emanuel, H. Kurahashi, H. Kogo, 2007, Genome research.

Cruciform DNA Structure Underlies the Etiology for Palindrome-mediated Human Chromosomal Translocations*

B. Emanuel, H. Kurahashi, T. Toda, 2004, Journal of Biological Chemistry.

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.

E. Zackai, B. Emanuel, S. Saitta, 2004, Human molecular genetics.

A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22).

T. Shaikh, A. Gotter, B. Emanuel, 2003, Human molecular genetics.

The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.

T. Shaikh, B. Emanuel, H. Kurahashi, 2003, American journal of human genetics.

Long AT-rich palindromes and the constitutional t(11;22) breakpoint.

B. Emanuel, H. Kurahashi, Beverly S. Emanuel, 2001, Human molecular genetics.

Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22).

E. Zackai, T. Shaikh, B. Emanuel, 2000, American journal of human genetics.

Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22).

B. Roe, T. Shaikh, P. Hu, 2000, Human molecular genetics.

Copy-Number Variation of the Glucose Transporter Gene SLC 2 A 3 and Congenital Heart Defects in the 22 q 11 . 2 Deletion Syndrome

E. Zackai, T. Shaikh, K. Coleman, 2022 .

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.

E. Zackai, T. Shaikh, B. Emanuel, 1999, American journal of human genetics.

Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

B. Roe, E. Zackai, A. Hua, 1997, Human molecular genetics.

Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction.

E. Zackai, B. Emanuel, Beverly S. Emanuel, 1980, American journal of medical genetics.

Cerebral Cortex Advance Access published October 20, 2006 Mapping Cortical Thickness in Children with 22q11.2 Deletions

Arthur W Toga, Theo G M van Erp, Paul M Thompson, 2022 .

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo‐cardio‐facial/digeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2011, Human mutation.

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

John Wei, S. Scherer, E. Zackai, 2017, The American journal of psychiatry.

The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

E. Zackai, K. Sullivan, B. Emanuel, 1999, Genetic counseling.

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

S. Scherer, M. Owen, R. Gur, 2020, Nature Medicine.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Alex V. Kotlar, Sunny X. Tang, E. Zackai, 2020, Molecular Psychiatry.

Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse.

J. Nadeau, P. Nolan, B. Emanuel, 1993, Human molecular genetics.

Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations

B. Emanuel, H. Kurahashi, M. Tsutsumi, 2013, Nature Communications.

Analysis of the t(3;8) of hereditary renal cell carcinoma: a palindrome-mediated translocation.

B. Emanuel, H. Kurahashi, T. Glover, 2014, Cancer genetics.

Genetic Variation Affects de Novo Translocation Frequency

B. Emanuel, H. Kurahashi, H. Kogo, 2006, Science.

Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.

E. Zackai, B. Clark, A. Jawad, 1999, American journal of medical genetics.

Report of the committee on the genetic constitution of chromosome 22.

B. Emanuel, J. Kaplan, 1988, Cytogenetics and cell genetics.

A major human histone gene cluster on the long arm of chromosome 1.

G. Stein, B. Emanuel, J. Stein, 1984, Science.

Monoclonal antibody-dependent, cell-mediated cytotoxicity against human malignant gliomas.

J. Biegel, B. Emanuel, A. Ross, 1990, Neurosurgery.

Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.

E. Zackai, B. Emanuel, F. Ramos, 1992, American journal of medical genetics.

Growth factor requirements of childhood acute leukemia: establishment of GM-CSF-dependent cell lines

P. Nowell, B. Emanuel, B. Lange, 1987 .

Growth factor requirements of childhood acute leukemia: establishment of GM-CSF-dependent cell lines.

B. Emanuel, B. Lange, C. Griffin, 1987, Blood.

Structure, chromosomal localization, and methylation pattern of the human mb-1 gene.

B. Emanuel, H. Ha, P. Burrows, 1994, Journal of immunology.

Chromosome alterations in oncogenesis.

P. Nowell, C. Croce, B. Emanuel, 1985, Haematology and blood transfusion.

Molecular studies of DiGeorge syndrome.

B. Emanuel, M. Budarf, H. McDermid, 1990, American journal of human genetics.

Evaluation of Potential Modifiers of the Palatal Phenotype in the 22q11.2 Deletion Syndrome

E. Zackai, B. Emanuel, D. Driscoll, 2006, Birth defects research. Part A, Clinical and molecular teratology.

Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.

E. Zackai, B. Emanuel, D. Driscoll, 2006, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.

B. Emanuel, D. Driscoll, E. Goldmuntz, 1993, American journal of medical genetics.

Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.

T. Shaikh, B. Emanuel, H. Kurahashi, 2009, Genome research.

Holoprosencephaly: association with interstitial deletion of 2p and review of the cytogenetic literature.

E. Zackai, B. Emanuel, M. Münke, 1988, American journal of medical genetics.

Structural and functional analysis of a growth-regulated gene, the human calcyclin.

S. Ferrari, B. Calabretta, B. Emanuel, 1987, The Journal of biological chemistry.

The Recurrent t(11;22)(q23;q11.2) Can Occur as a Post-Zygotic Event

B. Emanuel, L. Conlin, B. Lilley, 2018, Cytogenetic and Genome Research.

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

E. Zackai, L. Hoefsloot, B. Emanuel, 2013, Molecular Syndromology.

Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2).

T. Mohandas, C. Bell, S. Bigner, 1997, Cytogenetics and cell genetics.

A double hit implicates DIAPH3 as an autism risk gene

R. Ophoff, H. Engeland, R. Kahn, 2011, Molecular Psychiatry.

Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

E. Zackai, J. Pinto-Martin, B. Emanuel, 2005, Journal of autism and developmental disorders.

DNA secondary structure is influenced by genetic variation and alters susceptibility to de novo translocation

B. Emanuel, H. Kurahashi, M. Tsutsumi, 2011, Molecular Cytogenetics.

Paternal origin of the de novo constitutional t(11;22)(q23;q11)

E. Zackai, L. Medne, B. Emanuel, 2010, European Journal of Human Genetics.

Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.

B. Emanuel, H. Kurahashi, M. Tsutsumi, 2009, Human molecular genetics.

Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats

B. Emanuel, H. Kurahashi, H. Kogo, 2007, Nucleic acids research.

Palindrome-mediated chromosomal translocations in humans.

B. Emanuel, H. Kurahashi, H. Kogo, 2006, DNA repair.

Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status

Deanne M. Taylor, E. Zackai, H. Hakonarson, 2019, Birth defects research.

Human platelet factor 4 gene is mapped to 4q12----q21.

B. Emanuel, C. Griffin, M. Poncz, 1987, Cytogenetics and cell genetics.

A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children

Joel P. Bish, E. Zackai, J. Gee, 2005, Development and Psychopathology.

Effects of Comt Genotype on Behavioral Symptomatology in the 22q11.2 Deletion Syndrome

E. Zackai, C. Bearden, A. Jawad, 2005, Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence.

Use of dual-color interphase FISH for the detection of inv(16) in acute myeloid leukemia at diagnosis, relapse and during follow-up: a study of 23 patients

M. Mancini, A. Hagemeijer, C. Mecucci, 2000, Leukemia.

Two different forms of palindrome resolution in the human genome: deletion or translocation.

B. Emanuel, H. Kurahashi, H. Kogo, 2008, Human molecular genetics.

Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes.

E. Zackai, A. Jawad, K. Sullivan, 1998, Clinical immunology and immunopathology.

Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).

E. Zackai, K. Sullivan, B. Emanuel, 1997, Arthritis and rheumatism.

Longitudinal Analysis of Lymphocyte Function and Numbers in the First Year of Life in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

E. Zackai, A. Jawad, K. Sullivan, 1999, Clinical Diagnostic Laboratory Immunology.

A culture with a derivative chromosome 10 from a paternal (10;Rodriguez16) translocation

E. Zackai, B. Emanuel, A. Greene, 1977 .

A culture with a derivative chromosome 10 from a paternal (10;16) translocation. Repository identification no. GM-1396.

E. Zackai, B. Emanuel, A. Greene, 1977, Cytogenetics and Cell Genetics.

Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region.

B. Roe, B. Emanuel, M. Budarf, 1997, Human molecular genetics.

A chromosomal breakage syndrome with profound immunodeficiency.

W. W. Nichols, P. Nowell, N. Spinner, 1986, Blood.

Alternative diffusion anisotropy measures for the investigation of white matter alterations in 22q11.2 deletion syndrome

Paul M. Thompson, Christopher R. K. Ching, Julio E. Villalon-Reina, 2018, Symposium on Medical Information Processing and Analysis.

Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene.

D. Srivastava, B. Emanuel, Xiao Liu, 2002, Genomics.

Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype.

B. Emanuel, M. Budarf, D. Driscoll, 1998, American journal of human genetics.

Molecular cytogenetics: toward dissection of the contiguous gene syndromes.

B. Emanuel, B. Emanuel, 1988, American journal of human genetics.

A microsatellite-based multipoint index map of human chromosome 22.

K. Buetow, D. Duggan, R. Spielman, 1993, Genomics.

Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals

E. Zackai, B. Emanuel, K. Boycott, 2009, American journal of medical genetics. Part A.

Chromosomal Translocations Mediated by Palindromic DNA

B. Emanuel, H. Kurahashi, H. Kogo, 2006, Cell cycle.

A unique case of der(11)t(11;22),‐22 arising from 3:1 segregation of a maternal t(11;22) in a family with co‐segregation of the translocation and breast cancer

V. Jobanputra, W. Chung, D. Warburton, 2005, Prenatal diagnosis.

Two adult siblings with thrombocytopenia and a familial 13;14 translocation.

P. Nowell, B. Emanuel, J. Finan, 1984, Cancer genetics and cytogenetics.

Progressive preleukemia with a chromosomally abnormal clone in a kindred with the Estren-Dameshek variant of Fanconi's anemia.

P. Nowell, B. Emanuel, E. Besa, 1984, Blood.

Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission.

B. Emanuel, D. Johnson, M. Leffell, 1984, The Journal of pediatrics.

Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome

E. Zackai, R. Gur, R. Gur, 2021, Brain and behavior.

Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13.

B. Emanuel, F. Barr, B. Sellinger, 1991, Genomics.

Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma

J. Biegel, B. Emanuel, F. Barr, 1991, Genes, chromosomes & cancer.

Mapping of the human lambda immunoglobulin variable gene subgroup 1

B. Emanuel, H. McDermid, 1994, Immunogenetics.

The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development.

B. Roe, Z. Wang, B. Emanuel, 1997, American journal of human genetics.

Application of a subtraction hybridization technique involving photoactivatable biotin and organic extraction to solution hybridization analysis of genomic DNA.

B. Emanuel, F. Barr, B. Emanuel, 1990, Analytical biochemistry.

Tissue-type plasminogen activator gene is on chromosome 8.

B. Emanuel, F. Blasi, T. Ny, 1986, Cytogenetics and cell genetics.

Mammalian TIMELESS and Tipin are evolutionarily conserved replication fork-associated factors.

A. Gotter, B. Emanuel, C. Suppa, 2007, Journal of molecular biology.

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder

E. Zackai, Judith S Miller, R. Schultz, 2017, Molecular Autism.

Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow.

E. Zackai, B. Emanuel, D. Driscoll, 2000, The Journal of pediatrics.

Toward a long-range map of human chromosomal band 22q11.

B. Emanuel, M. Budarf, H. McDermid, 1989, Genomics.

The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder

E. Zackai, H. Hakonarson, R. Schultz, 2016, Scientific Reports.

Human al ( III ) and a 2 ( V ) procollagen genes are located on the long arm of chromosome 2

B. Emanuel, J. Myers, L. Cannizzaro, 2022 .

A radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 locus.

R. Myers, D. Cox, K. Frazer, 1992, Genomics.

Risk of breast cancer not increased in translocation 11;22 carriers: Analysis of 80 pedigrees

B. Emanuel, K. Boycott, N. Barrowman, 2010, American journal of medical genetics. Part A.

Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome

Sunny X. Tang, B. Turetsky, E. Zackai, 2018, Schizophrenia Research.

Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome

Sunny X. Tang, E. Zackai, R. Gur, 2018, Schizophrenia bulletin.

Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study

Sunny X. Tang, E. Zackai, R. Gur, 2017, Schizophrenia Research.

Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study

Sunny X. Tang, E. Zackai, E. Walker, 2017, Schizophrenia bulletin.

The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths

Sunny X. Tang, E. Zackai, R. Gur, 2017, Biological Psychiatry.

Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome

E. Zackai, M. Calkins, T. Moore, 2017, Translational Psychiatry.

Author ’ s Accepted Manuscript White matter microstructural deficits in 22 q 11 . 2 deletion syndrome

E. Zackai, R. Gur, R. Gur, 2017 .

Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome.

Sunny X. Tang, E. Zackai, R. Gur, 2015, The Journal of clinical psychiatry.

Chromosome Abnormalities in Pediatrie Brain Tumors1

L. Rorke, B. Emanuel, C. Griffin, 1988 .

Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome

N. Wray, E. Zackai, M. Owen, 2019, Schizophrenia Research.

Occupations of parents of children with retinoblastoma: a report from the Children's Cancer Study Group.

J. Buckley, W. Woods, B. Emanuel, 1990, Cancer research.

Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome).

E. Zackai, B. Emanuel, D. Driscoll, 1998, Journal of developmental and behavioral pediatrics : JDBP.

Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype.

N. Spinner, B. Emanuel, D. Driscoll, 1993, American journal of diseases of children.

Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions.

Agatha D. Lee, Theo G M van Erp, Donna McDonald-McGinn, 2009, Cerebral cortex.

Interstitial deletion of 4(q21q25) in a liveborn male.

E. Zackai, B. Emanuel, D. McDonald-McGinn, 1991, American journal of medical genetics.

Title: Attention Deficit Hyperactivity Disorder symptoms and psychosis in 22q11.2 Deletion syndrome Running title: ADHD and psychosis in 22q11.2DS Authors and affiliations:

E. Zackai, R. Gur, R. Gur, 2018 .

Erratum to: 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

E. Zackai, Judith S Miller, R. Schultz, 2016, Molecular Autism.

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

E. Zackai, Judith S Miller, R. Schultz, 2016, Molecular Autism.

Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities

Sunny X. Tang, E. Zackai, R. Gur, 2014, Molecular Psychiatry.

Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development

B. Roe, T. Shaikh, F. Chen, 1999, Mammalian Genome.

PCR assay for screening patients at risk for 22q11.2 deletion.

B. Emanuel, M. Budarf, D. Driscoll, 1997, Genetic testing.

Interphase cytogenetics for the detection of the t(11;22)(q24;q12) in small round cell tumors.

G. Evans, M. Giovannini, B. Emanuel, 1992, The Journal of clinical investigation.

Recurrence rate for de novo 21q21q translocation Down syndrome: a study of 112 families.

E. Zackai, B. Emanuel, M. Mennuti, 1984, American journal of medical genetics.

Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.

E. Zackai, B. Emanuel, D. Driscoll, 1999, The Journal of pediatrics.

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

E. Zackai, C. Haldeman-Englert, T. Shaikh, 2010, American journal of human genetics.

Abnormal chromosome 22 and recurrence of trisomy-22 syndrome.

E. Zackai, B. Emanuel, P. Moorhead, 1976, Journal of medical genetics.

Compound lateral asymmetry in human chromosome 6:BrdU-dye studies of 6q12-->6q14.

B. Emanuel, 1978, American journal of human genetics.

Isolation and regional mapping of 110 chromosome 22 STSs.

T. Hudson, R. Nussbaum, B. Emanuel, 1994, Genomics.

Human differentiation-stimulating factor (leukemia inhibitory factor, human interleukin DA) gene maps distal to the Ewing sarcoma breakpoint on 22q.

T. Mohandas, D. Goeddel, B. Emanuel, 1989, Cytogenetics and cell genetics.

22q and two: 22q11.2 deletion syndrome and coexisting conditions

E. Zackai, B. Emanuel, D. McDonald-McGinn, 2018, American journal of medical genetics. Part A.

MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data

Larry N. Singh, D. Rader, S. Damrauer, 2021, PLoS computational biology.

Microdeletion 22q11.2: clinical data and deletion size

C. Cytrynbaum, T. Scheidl, B. Emanuel, 1997, Journal of medical genetics.

The gene encoding the large subunit of human RNA polymerase II is located on the short arm of chromosome 17.

B. Emanuel, K. Cho, R. Weinmann, 1986, American journal of human genetics.

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation

Y. Fukushima, B. Emanuel, H. Kurahashi, 2014, Molecular Cytogenetics.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

E. Zackai, J. Vermeesch, B. Emanuel, 2019, Genetics in Medicine.

Localization of the human procollagen alpha 1(IV) gene to chromosome 13q34 by in situ hybridization.

B. Emanuel, J. Myers, L. Gudas, 1986, American journal of human genetics.

Velopharyngeal Anatomy in 22q11.2 Deletion Syndrome: A Three-Dimensional Cephalometric Analysis

E. Zackai, R. Arens, J. McDonough, 2006 .

Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis.

E. Zackai, R. Arens, J. McDonough, 2006, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Role of Nitric Oxide in Venous and Arterial Graft Failure

B. Clark, B. Emanuel, B. Cuneo, 2016 .

Neurocognitive profile in psychotic versus nonpsychotic individuals with 22q11.2 deletion syndrome

E. Zackai, R. Gur, R. Gur, 2016, European Neuropsychopharmacology.

Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11.

R A Zimmerman, E. Zackai, R. Zimmerman, 1997, American journal of medical genetics.

Monosomy 22 in rhabdoid or atypical teratoid tumors of the brain.

J. Biegel, L. Rorke, B. Emanuel, 1989, The New England journal of medicine.

A chromosomal breakage syndrome with profound immunodeficiency

W. W. Nichols, P. Nowell, N. Spinner, 1986 .

Chromosomal localization of the human elastin gene.

J. Rosenbloom, B. Emanuel, L. Cannizzaro, 1985, American journal of human genetics.

In situ hybridization and translocation breakpoint mapping. III. DiGeorge syndrome with partial monosomy of chromosome 22.

B. Emanuel, L. Cannizzaro, 1985, Cytogenetics and cell genetics.

A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.

B. Roe, J. Lund, C. Mickanin, 1997, Genome research.

Velopharyngeal incompetence diagnosed in a series of cardiac patients prompted by the finding of a 22q11.2 deletion

B. Emanuel, D. Driscoll, E. Goldmuntz, 1994 .

Deletion of 2p: a cytogenetic and clinical update.

E. Zackai, B. Emanuel, J. Neidich, 1987, American journal of medical genetics.

51 Myoma of the uterus with a complex chromosome rearrangement

B. Emanuel, C. Griffin, Z. Gibas, 1987 .

In situ hybridization and translocation breakpoint mapping. II. Two unusual t(21;22) translocations.

B. Emanuel, L. Cannizzaro, M. Aronson, 1985, Cytogenetics and cell genetics.

Trisomy 7 and i(5p) in a transitional cell carcinoma of the ureter.

B. Emanuel, C. Griffin, Z. Gibas, 1987, Cancer Genetics and Cytogenetics.

Abstracts of workshop presentations pp. 1075-1091

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

Chromosome variations in human evolution.

B. Emanuel, 1977 .

Corrigendum to "The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome" [J. Psychiatr. Res. 92 (2017) 124-131].

Sunny X. Tang, E. Zackai, R. Gur, 2019, Journal of Psychiatric Research.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Deanne M. Taylor, E. Zackai, K. Coleman, 2016, Human Genetics.

Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics

S. Schwartz, F. Bieber, R. Stevenson, 2016, Genetics in Medicine.

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2–24.1

B. Emanuel, Y. Sznajer, N. Revencu, 2014, American journal of medical genetics. Part A.

Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23.

E. Zackai, D. Swallow, B. Emanuel, 1979, American journal of medical genetics.

Abstracts of workshop presentations pp. 1057-1074

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

Abstracts for the committee on the genetic constitution of chromosome 6

Brien, J. Beckmann, K. Kidd, 1991 .

Abstracts of workshop presentations pp. 1023-1039

R. L. Miller, D. Cox, D. Ledbetter, 1989 .

Abstracts for the committee on comparative gene mapping

Brien, J. Beckmann, K. Kidd, 1991 .

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.

Mark J. Bowser, E. Zackai, B. Morrow, 2013, International journal of pediatric otorhinolaryngology.

kindred with the Estren-Dameshek variant of Fanconi's anemia Progressive preleukemia with a chromosomally abnormal clone in a

P. Nowell, B. Emanuel, E. Besa, 2011 .

Autosomal dominant {open_quotes}Opitz{close_quotes} GBBB syndrome due to a 22q11.2 deletion

E. Zackai, B. Emanuel, D. McDonald-McGinn, 1996 .

A panel of sequence tagged sites for chromosome band 11q23.

P. Radice, B. Emanuel, M. Budarf, 1993, Genomics.

Abstracts for the committee on the genetic constitution of chromosome 15

Brien, J. Beckmann, K. Kidd, 1991 .

Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements.

B. Emanuel, 2008, Developmental disabilities research reviews.

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome

Megan K. Lessig, E. Zackai, B. Emanuel, 2018, American journal of medical genetics. Part A.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3

A J Agopian, Jonathan H. Chung, E. Zackai, 2022 .

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.

Jonathan H. Chung, E. Zackai, B. Morrow, 2015, American journal of human genetics.

Replicative Hybrid of T4 Bacteriophage DNA

B. Emanuel, 1973, Journal of virology.

The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths

Sunny X. Tang, E. Zackai, R. Gur, 2017, Biological Psychiatry.

Structural analysis of a carcinogen-induced genomic rearrangement event.

B. Emanuel, R. Davis, F. Barr, 1992, Proceedings of the National Academy of Sciences of the United States of America.