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Deborah Driscoll

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Tracy Busse; John M Graham; Gerald L Feldman; Juan Perin; Anne Catherwood; Robert Knowlton; Eric F Rappaport; Beverly Emanuel; Deborah A Driscoll; Sulagna C Saitta
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.
Deborah A Driscoll; Susan J Gross
Screening for fetal aneuploidy and neural tube defects.
Deborah A Driscoll; Susan J Gross
Clinical practice. Prenatal screening for aneuploidy.

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All Publications

2011: Tracy Busse; John M Graham; Gerald L Feldman; Juan Perin; Anne Catherwood; Robert Knowlton; Eric F Rappaport; Beverly Emanuel; Deborah A Driscoll; Sulagna C Saitta
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome.
Human mutation 2011;32(1):91-7.
2009: Deborah A Driscoll; Susan J Gross
Screening for fetal aneuploidy and neural tube defects.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(11):818-21.
2009: Deborah A Driscoll; Susan J Gross
Clinical practice. Prenatal screening for aneuploidy.
The New England journal of medicine 2009;360(24):2556-62.
2009: Deborah A Driscoll; Maria A Morgan; Jay Schulkin
Screening for Down syndrome: changing practice of obstetricians.
American journal of obstetrics and gynecology 2009;200(4):459.e1-9.
2009: Elizabeth Goldmuntz; Deborah A Driscoll; Beverly S Emanuel; Donna McDonald-McGinn; Minghua Mei; Elaine Zackai; Laura E Mitchell
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.
2008: Deborah A Driscoll; Susan J Gross
First trimester diagnosis and screening for fetal aneuploidy.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(1):73-5.
2008: Beth A Pletcher; Susan J Gross; Kristin G Monaghan; Deborah A Driscoll; Michael S Watson
The future is now: carrier screening for all populations.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(1):33-6.
2006: Deborah A Driscoll; Torrey Boland; Beverly S Emanuel; Richard E Kirschner; Don LaRossa; Jeanne M Manson; Donna McDonald-McGinn; Peter Randall; Cynthia B Solot; Elaine Zackai; Laura E Mitchell
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: Deborah A Driscoll
Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome.
Methods in molecular medicine 2006;126():43-55.
2005: D Lambrechts; koenraad devriendt; Deborah A Driscoll; Elizabeth Goldmuntz; M Gewillig; Robert Francois Vlietinck; D Collen; P Carmeliet
Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study.
Journal of medical genetics 2005;42(6):519-22.
2005: Maria A Morgan; Deborah A Driscoll; Stanley Zinberg; Jay Schulkin; Michael T Mennuti
Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening.
Obstetrics and gynecology 2005;105(6):1355-61.
2004: Deborah A Driscoll
Second trimester maternal serum screening for fetal open neural tube defects and aneuploidy.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(6):540-1.
2004: Maria A Morgan; Deborah A Driscoll; Michael T Mennuti; Jay Schulkin
Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(5):450-5.
2004: Beata E Seeber; Deborah A Driscoll
Hereditary breast and ovarian cancer syndrome: should we test adolescents?
Journal of pediatric and adolescent gynecology 2004;17(3):161-7.
2004: Sulagna C Saitta; Stacy E Harris; Ann P Gaeth; Deborah A Driscoll; Donna M McDonald-McGinn; Melissa K Maisenbacher; Jill M Yersak; Prabir K Chakraborty; April M Hacker; Elaine H Zackai; Terry Ashley; Beverly S Emanuel
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.
Human molecular genetics 2004;13(4):417-28.
2004: Sulagna C Saitta; Stacy E Harris; Donna M McDonald-McGinn; Beverly S Emanuel; Melissa K Tonnesen; Elaine H Zackai; Suzanne C Seitz; Deborah A Driscoll
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.
2003: Doff B McElhinney; Deborah A Driscoll; Elissa R Levin; Abbas F Jawad; Beverly S Emanuel; Elizabeth Goldmuntz
Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies.
Pediatrics 2003;112(6 Pt 1):e472.
2003: Deborah A Driscoll
Polycystic ovary syndrome in adolescence.
Annals of the New York Academy of Sciences 2003;997():49-55.
2003: Doff B McElhinney; Deborah A Driscoll; Beverly S Emanuel; Elizabeth Goldmuntz
Chromosome 22q11 deletion in patients with truncus arteriosus.
Pediatric cardiology 2003;24(6):569-73.
2003: Michael T Mennuti; Deborah A Driscoll
Screening for Down's syndrome--too many choices?
The New England journal of medicine 2003;349(15):1471-3.
2003: Deborah A Driscoll
Polycystic ovary syndrome in adolescence.
Seminars in reproductive medicine 2003;21(3):301-7.
2003: Anthony O Odibo; Mohammed Elkousy; Serdar H Ural; Deborah A Driscoll; Michael T Mennuti; George A Macones
Screening for aneuploidy in twin pregnancies: maternal age- and race-specific risk assessment between 9-14 weeks.
Twin research : the official journal of the International Society for Twin Studies 2003;6(4):251-6.
2003: Clarisa R Gracia; Deborah A Driscoll
Molecular basis of pubertal abnormalities.
Obstetrics and gynecology clinics of North America 2003;30(2):261-77.
2002: Charles Venditti; Jennifer Farmer; Karen L Russell; Christopher A Friedrich; Craig Alter; Douglas Canning; Linton A Whitaker; Michael T Mennuti; Deborah A Driscoll; Elaine H Zackai
Omodysplasia: an affected mother and son.
American journal of medical genetics 2002;111(2):169-77.
2001: W Gong; S Gottlieb; J Collins; A Blescia; Harry C Dietz; Elizabeth Goldmuntz; Donna M McDonald-McGinn; E H Zackai; B S Emanuel; Deborah A Driscoll; Marcia L Budarf
Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.
Journal of medical genetics 2001;38(12):E45.
2001: Martha E Rode; Michael T Mennuti; R M Giardine; Elaine H Zackai; Deborah A Driscoll
Early ultrasound diagnosis of Neu-Laxova syndrome.
Prenatal diagnosis 2001;21(7):575-80.
2001: Doff B McElhinney; Bernard J Clark; Paul M Weinberg; M L Kenton; Donna McDonald-McGinn; Deborah A Driscoll; Elaine H Zackai; Elizabeth Goldmuntz
Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching.
Journal of the American College of Cardiology 2001;37(8):2114-9.
2001: Donna M McDonald-McGinn; Melissa K Tonnesen; Ayala Laufer-Cahana; B Finucane; Deborah A Driscoll; Beverly S Emanuel; Elaine H Zackai
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: Deborah A Driscoll
Prenatal diagnosis of the 22q11.2 deletion syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(1):14-8.
2000: Margrit Urbanek; X Wu; K R Vickery; L C Kao; Lane K Christenson; ALAN SCHNEYER; Richard S Legro; Deborah A Driscoll; Jerome F Strauss; Andrea Dunaif; Richard S Spielman
Allelic variants of the follistatin gene in polycystic ovary syndrome.
The Journal of clinical endocrinology and metabolism 2000;85(12):4455-61.
2000: Hiroki Kurahashi; Tamim H Shaikh; Elaine H Zackai; L Celle; Deborah A Driscoll; Marcia L Budarf; Beverly S Emanuel
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: PS Eicher; Donna M McDonald-McGinn; C A Fox; Deborah A Driscoll; Beverly S Emanuel; Elaine H Zackai
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: Cynthia B Solot; C Knightly; Steven D Handler; Marsha Gerdes; Donna M McDonald-McGinn; Edward Moss; Peter Wang; M Cohen; Peter Randall; Don LaRossa; Deborah A Driscoll
Communication disorders in the 22Q11.2 microdeletion syndrome.
Journal of communication disorders 2000;33(3):187-203; quiz 203-4.
2000: Tamim H Shaikh; Hiroki Kurahashi; Sulagna C Saitta; A M O'Hare; P Hu; BA Roe; Deborah A Driscoll; Donna M McDonald-McGinn; Elaine H Zackai; Marcia L Budarf; Beverly S Emanuel
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.
1999: Kathleen E Sullivan; Donna McDonald-McGinn; Deborah A Driscoll; Beverly S Emanuel; Elaine H Zackai; Abbas F Jawad
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: W S Kerstjens-Frederikse; Hiroki Kurahashi; Deborah A Driscoll; Marcia L Budarf; B S Emanuel; BG Beatty; T Scheidl; J Siegel-Bartelt; K Henderson; Cheryl S Cytrynbaum; G Nie; Ikuko Teshima
Microdeletion 22q11.2: clinical data and deletion size.
Journal of medical genetics 1999;36(9):721-3.
1999: Margrit Urbanek; Richard S Legro; Deborah A Driscoll; R Azziz; D A Ehrmann; Robert J Norman; Jerome F Strauss; Richard S Spielman; Andrea Dunaif
Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(15):8573-8.
1999: Marsha Gerdes; Cynthia B Solot; Paul P Wang; Edward Moss; Don LaRossa; Peter Randall; Elizabeth Goldmuntz; Bernard J Clark; Deborah A Driscoll; Abbas Jawad; Beverly S Emanuel; Donna M McDonald-McGinn; Mark L Batshaw; Elaine H Zackai
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.
American journal of medical genetics 1999;85(2):127-33.
1999: Edward Moss; Mark L Batshaw; Cynthia B Solot; Marsha Gerdes; Donna M McDonald-McGinn; Deborah A Driscoll; Beverly S Emanuel; Elaine H Zackai; Paul P Wang
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.
The Journal of pediatrics 1999;134(2):193-8.
1998: Paul P Wang; Cynthia B Solot; Edward Moss; Marsha Gerdes; Donna M McDonald-McGinn; Deborah A Driscoll; Beverly S Emanuel; Elaine H Zackai
Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome).
Journal of developmental and behavioral pediatrics : JDBP 1998;19(5):342-5.
1998: Elizabeth Goldmuntz; Bernard J Clark; Laura E Mitchell; Abbas F Jawad; BF Cuneo; L Reed; Donna McDonald-McGinn; P Chien; J Feuer; Elaine H Zackai; Beverly S Emanuel; Deborah A Driscoll
Frequency of 22q11 deletions in patients with conotruncal defects.
Journal of the American College of Cardiology 1998;32(2):492-8.
1998: D C Rigsby; G A Macones; Deborah A Driscoll
Risk factors for rapid repeat pregnancy among adolescent mothers: a review of the literature.
Journal of pediatric and adolescent gynecology 1998;11(3):115-26.
1998: C A Smith; Deborah A Driscoll; Beverly S Emanuel; Donna M McDonald-McGinn; Elaine H Zackai; Kathleen E Sullivan
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: Stuart A Weinzimer; Donna M McDonald-McGinn; Deborah A Driscoll; Beverly S Emanuel; Elaine H Zackai; Thomas Moshang
Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype.
Pediatrics 1998;101(5):929-32.
1998: Kathleen E Sullivan; Abbas F Jawad; Peter Randall; Deborah A Driscoll; Beverly S Emanuel; Donna M McDonald-McGinn; Elaine H Zackai
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: S Gottlieb; Deborah A Driscoll; H H Punnett; BT Sellinger; Beverly S Emanuel; Marcia L Budarf
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: Kerry E McTaggart; Marcia L Budarf; Deborah A Driscoll; Beverly S Emanuel; P Ferreira; Heather E McDermid
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: Jeffrey E Ming; Donna M McDonald-McGinn; T E Megerian; Deborah A Driscoll; Ellen R Elias; B M Russell; Mira Irons; Beverly S Emanuel; Richard Markowitz; Elaine H Zackai
Skeletal anomalies and deformities in patients with deletions of 22q11.
American journal of medical genetics 1997;72(2):210-5.
1997: S Gottlieb; Beverly S Emanuel; Deborah A Driscoll; BT Sellinger; Z Wang; B Roe; Marcia L Budarf
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: Donna M McDonald-McGinn; Deborah A Driscoll; Beverly S Emanuel; Elizabeth Goldmuntz; Bernard J Clark; Cynthia B Solot; M Cohen; P Schultz; Don LaRossa; Peter Randall; Elaine H Zackai
Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence.
Pediatrics 1997;99(5):E9.
1997: Karen W Gripp; Donna M McDonald-McGinn; Deborah A Driscoll; L A Reed; Beverly S Emanuel; Elaine H Zackai
Nasal dimple as part of the 22q11.2 deletion syndrome.
American journal of medical genetics 1997;69(3):290-2.
1997: BF Cuneo; Deborah A Driscoll; S S Gidding; Craig B Langman
Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome.
American journal of medical genetics 1997;69(1):50-5.
1997: Kathleen E Sullivan; Donna M McDonald-McGinn; Deborah A Driscoll; C M Zmijewski; A S Ellabban; L Reed; Beverly S Emanuel; Elaine H Zackai; BH Athreya; Gregory F Keenan
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: W Gong; Beverly S Emanuel; N Galili; D H Kim; B Roe; Deborah A Driscoll; Marcia L Budarf
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: Deborah A Driscoll; Beverly S Emanuel; Laura E Mitchell; Marcia L Budarf
PCR assay for screening patients at risk for 22q11.2 deletion.
Genetic testing 1997;1(2):109-13.
1996: M Li; E H Zackai; N Niikawa; P Kaplan; Deborah A Driscoll
Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.
American journal of medical genetics 1996;65(2):101-3.
1996: L B Ludlow; B P Schick; Marcia L Budarf; Deborah A Driscoll; E H Zackai; A Cohen; BA Konkle
Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.
The Journal of biological chemistry 1996;271(36):22076-80.
1996: B F Cuneo; Craig B Langman; M N Ilbawi; V Ramakrishnan; A Cutilletta; Deborah A Driscoll
Latent hypoparathyroidism in children with conotruncal cardiac defects.
Circulation 1996;93(9):1702-8.
1995: D M McDonald-McGinn; Deborah A Driscoll; L Bason; K Christensen; D Lynch; K Sullivan; Douglas A Canning; W Zavod; N Quinn; J Rome
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.
American journal of medical genetics 1995;59(1):103-13.
1995: Marcia L Budarf; J Collins; W Gong; B Roe; Z Wang; L C Bailey; BT Sellinger; D Michaud; Deborah A Driscoll; Beverly S Emanuel
Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene.
Nature genetics 1995;10(3):269-78.
1995: David R Lynch; D M McDonald-McGinn; E H Zackai; Beverly S Emanuel; Deborah A Driscoll; L A Whitaker; Kenneth H Fischbeck
Cerebellar atrophy in a patient with velocardiofacial syndrome.
Journal of medical genetics 1995;32(7):561-3.
1995: Marcia L Budarf; BA Konkle; L B Ludlow; D Michaud; M Li; DJ Yamashiro; D McDonald-McGinn; E H Zackai; Deborah A Driscoll
Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.
Human molecular genetics 1995;4(4):763-6.
1995: Nathaniel H Robin; BT Sellinger; D McDonald-McGinn; E H Zackai; Beverly S Emanuel; Deborah A Driscoll
Classical Noonan syndrome is not associated with deletions of 22q11.
American journal of medical genetics 1995;56(1):94-6.
1994: Deborah A Driscoll
Genetic basis of DiGeorge and velocardiofacial syndromes.
Current opinion in pediatrics 1994;6(6):702-6.
1994: Robert E Nickel; De-Ann M Pillers; Mark J Merkens; R Ellen Magenis; Deborah A Driscoll; B S Emanuel; Jonathan (Jon) Zonana
Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.
American journal of medical genetics 1994;52(4):445-9.
1993: Robert E Nickel; De-Ann M Pillers; Mark J Merkens; R Ellen Magenis; Deborah A Driscoll; B S Emanuel; Jonathan (Jon) Zonana
Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift für Kinderchirurgie 1993;3 Suppl 1():27-8.
1993: Thomas A Wilson; Sandra L Blethen; A Vallone; D S Alenick; P Nolan; A Katz; T P Amorillo; Elizabeth Goldmuntz; Beverly S Emanuel; Deborah A Driscoll
DiGeorge anomaly with renal agenesis in infants of mothers with diabetes.
American journal of medical genetics 1993;47(7):1078-82.
1993: S D McLean; H M Saal; Nancy B Spinner; B S Emanuel; Deborah A Driscoll
Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype.
American journal of diseases of children (1960) 1993;147(11):1212-6.
1993: Deborah A Driscoll; J Salvin; BT Sellinger; Marcia L Budarf; D M McDonald-McGinn; E H Zackai; Beverly S Emanuel
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.
1992: Deborah A Driscoll; Nancy B Spinner; Marcia L Budarf; D M McDonald-McGinn; E H Zackai; R B Goldberg; R J Shprintzen; H M Saal; Jonathan (Jon) Zonana; M C Jones
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.
American journal of medical genetics 1992;44(2):261-8.
1992: Deborah A Driscoll; Marcia L Budarf; Beverly S Emanuel
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.
American journal of human genetics 1992;50(5):924-33.
1991: Deborah A Driscoll; M L Budarf; B S Emanuel
Antenatal diagnosis of DiGeorge syndrome.
Lancet 1991;338(8779):1390-1.