FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Elizabeth Goldmuntz

Research Profile

Disorders

Anatomy

Chromosomes, Human, Pair 22

Living Beings

Physiology

Chemicals & Drugs

Concepts & Ideas

Procedures

DNA Mutational Analysis

Co-author Network

Publications

TOP 3
Lisa C A D'Alessandro; Brande C Latney; Prasuna Paluru; Elizabeth Goldmuntz
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.
Michael L O'Byrne; Stephen M Paridon; Eitan Ingall; Michael G McBride; Laura Mercer-Rosa; Elizabeth Goldmuntz
Habitual exercise correlates with exercise performance in patients with conotruncal abnormalities.
Brittney Murray; Paul Stephens; Rohan Wagle; Alisha Wilkens; Elaine H Zackai; Nuria Amat-Alarcon; Hugh Calkins; Matthew A Deardorff; Elizabeth Goldmuntz; Daniel P Judge
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Elizabeth Goldmuntz (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Lisa C A D'Alessandro; Brande C Latney; Prasuna Paluru; Elizabeth Goldmuntz
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle.
American journal of medical genetics. Part A 2013;161(4):792-802.
2013: Michael L O'Byrne; Stephen M Paridon; Eitan Ingall; Michael G McBride; Laura Mercer-Rosa; Elizabeth Goldmuntz
Habitual exercise correlates with exercise performance in patients with conotruncal abnormalities.
Pediatric cardiology 2013;34(4):853-60.
2013: Brittney Murray; Paul Stephens; Rohan Wagle; Alisha Wilkens; Elaine H Zackai; Nuria Amat-Alarcon; Hugh Calkins; Matthew A Deardorff; Elizabeth Goldmuntz; Daniel P Judge
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.
American journal of medical genetics. Part A 2013;161A(2):371-6.
2012: Kathryn C Chatfield; Dinah Clark; Matthew A Deardorff; Elizabeth Goldmuntz; Laird S Jackson; Maninder Kaur; ANTONIE KLINE; Jennifer Li; Samantha A Schrier; Ian D Krantz
Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.
American journal of medical genetics. Part A 2012;158A(10):2499-505.
2012: Laura Mercer-Rosa; Jack Rychik; Wei Yang; Mark Fogel; Shelby Kutty; Elizabeth Goldmuntz
Quantifying pulmonary regurgitation and right ventricular function in surgically repaired tetralogy of Fallot: a comparative analysis of echocardiography and magnetic resonance imaging.
Circulation. Cardiovascular imaging 2012;5(5):637-43.
2012: Xiaowu Gai; Elizabeth Goldmuntz; D E Grice; Hakon Hakonarson; K Murphy; R J O'Hara; J C Perin; Tamim H Shaikh; N Takahashi; A S Wenocur; Joseph Buxbaum; M D'arcy; J Elia; H M Xie; Peter S White
Rare structural variation of synapse and neurotransmission genes in autism.
Molecular psychiatry 2012;17(4):402-11.
2011: Elizabeth Goldmuntz; Hakon Hakonarson; Prasuna Paluru; Jaclyn A Biegel; Xiaowu Gai; Joseph Glessner; Peter S White; Tamim H Shaikh
Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.
Congenital heart disease 2011;6(6):592-602.
2011: Guo-Ying Huang; Paul D Lampe; Kaari L Linask; Chengyu Liu; Bishwanath Chatterjee; Elizabeth Goldmuntz; Lucrecia Marquez-Rosado; Doff B McElhinney; Ying-Jie Wu; Li-jian Xie; Yi Yang; Chen Zhang; Xiao-Qing Zhao; Guo-min Zhou; Cecilia W Lo
Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models.
Journal of cardiovascular disease research 2011;2(4):206-12.
2011: Jin Long; Philip J Lupo; Elizabeth Goldmuntz; Laura E Mitchell
Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: conotruncal and left-sided cardiac defects.
Birth defects research. Part A, Clinical and molecular teratology 2011;91(10):879-84.
2011: Seema Mital; Michael E Mitchell; Lynn A Sleeper; Cammon B Arrington; Wendy Chung; James F Cnota; Steven D Colan; Elizabeth Goldmuntz; Eric M Graham; Daphne Hsu; Teresa M Lee; Jami C Levine; Jennifer S Li; Cedric Manlhiot; Renee Margossian
Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle.
Circulation 2011;123(21):2353-62.
2011: Matthew A Harris; Kevin K Whitehead; Matthew J Gillespie; Timothy Y Liu; Michael T Cosulich; David C Shin; Elizabeth Goldmuntz; Paul M Weinberg; Mark A Fogel
Differential branch pulmonary artery regurgitant fraction is a function of differential pulmonary arterial anatomy and pulmonary vascular resistance.
JACC. Cardiovascular imaging 2011;4(5):506-13.
2011: Philip J Lupo; Laura E Mitchell; Elizabeth Goldmuntz
NAT1, NOS3, and TYMS genotypes and the risk of conotruncal cardiac defects.
Birth defects research. Part A, Clinical and molecular teratology 2011;91(1):61-5.
2011: Wyman W Lai; Victoria L Vetter; Marc Richmond; Jennifer S Li; J Philip Saul; Seema Mital; Steven D Colan; Jane W Newburger; Lynn A Sleeper; Brian W McCrindle; L LuAnn Minich; Elizabeth Goldmuntz; Bradley S Marino; Ismee A Williams; Gail D Pearson; Frank Evans; Jane D Scott; Meryl S Cohen
Clinical research careers: reports from a NHLBI pediatric heart network clinical research skills development conference.
American heart journal 2011;161(1):13-67.
2010: Robert C Bauer; Ayanna O Laney; Rosemarie Smith; Jennifer Gerfen; Jennifer J D Morrissette; Stacy Woyciechowski; Jennifer Garbarini; Kathleen M Loomes; Ian D Krantz; Zsolt Urban; Bruce D Gelb; Elizabeth Goldmuntz; Nancy B Spinner
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
Human mutation 2010;31(5):594-601.
2010: Maoqing Ye; Chris Coldren; Xingqun Liang; Teresa Mattina; Elizabeth Goldmuntz; D Woodrow Benson; Dunbar Ivy; M B Perryman; Lee Ann Garrett-Sinha; Paul D Grossfeld
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice.
Human molecular genetics 2010;19(4):648-56.
2010: Philip J Lupo; Elizabeth Goldmuntz; Laura E Mitchell
Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.
Journal of biomedicine & biotechnology 2010;2010():630940.
2010: Laura E Mitchell; Jin Long; Jennifer Garbarini; Prasuna Paluru; Elizabeth Goldmuntz
Variants of folate metabolism genes and risk of left-sided cardiac defects.
Birth defects research. Part A, Clinical and molecular teratology 2010;88(1):48-53.
2009: Erich Roessler; Wuhong Pei; Maia V Ouspenskaia; Jayaprakash D Karkera; Jorge Ivan Veléz; Sharmilla Banerjee-Basu; Gretchen Gibney; Philip J Lupo; Laura E Mitchell; Jeffrey A Towbin; P Bowers; John W Belmont; Elizabeth Goldmuntz; Andreas D Baxevanis; Benjamin Feldman; Maximilian Muenke
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Molecular genetics and metabolism 2009;98(1-2):225-34.
2009: R Thomas Collins; Paul M Weinberg; Elizabeth Goldmuntz; Matthew Harris
Images in cardiovascular medicine. Partial anomalous left pulmonary artery.
Circulation 2009;119(17):2405-7.
2009: Anitha S John; Donna M McDonald-McGinn; Elaine H Zackai; Elizabeth Goldmuntz
Aortic root dilation in patients with 22q11.2 deletion syndrome.
American journal of medical genetics. Part A 2009;149A(5):939-42.
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.
2009: Alvin J Chin; P Stephens; Elizabeth Goldmuntz; Mary B Leonard
Serum alkaline phosphatase reflects post-Fontan hemodynamics in children.
Pediatric cardiology 2009;30(2):138-45.
2008: Elizabeth Goldmuntz; Stacy Woyciechowski; Daniel Renstrom; Philip J Lupo; Laura E Mitchell
Variants of folate metabolism genes and the risk of conotruncal cardiac defects.
Circulation. Cardiovascular genetics 2008;1(2):126-32.
2008: Wendy L Hobbie; Thomas Moshang; Claire A Carlson; Elizabeth Goldmuntz; Nancy Sacks; Samuel B Goldfarb; Stephan A Grupp; Jill P Ginsberg
Late effects in survivors of tandem peripheral blood stem cell transplant for high-risk neuroblastoma.
Pediatric blood & cancer 2008;51(5):679-83.
2008: Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan Rope; Elaine Zackai; Barbara R Pober
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(7):469-94.
2008: Erich Roessler; Maia V Ouspenskaia; Jayaprakash D Karkera; Jorge I Vélez; Amy Kantipong; Felicitas Lacbawan; P Bowers; John W Belmont; Jeffrey A Towbin; Elizabeth Goldmuntz; Benjamin Feldman; Maximilian Muenke
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
American journal of human genetics 2008;83(1):18-29.
2007: Aoy Tomita-Mitchell; Cheryl L Maslen; Cynthia Morris; V Garg; Elizabeth Goldmuntz
GATA4 sequence variants in patients with congenital heart disease.
Journal of medical genetics 2007;44(12):779-83.
2007: Satish K Rajagopal; Qing Ma; Dita Obler; Jie Shen; Ani Manichaikul; Aoy Tomita-Mitchell; Kari Boardman; Christine Briggs; Vidu Garg; Deepak Srivastava; Elizabeth Goldmuntz; Karl W Broman; D Woodrow Benson; Leslie B Smoot; William T Pu
Spectrum of heart disease associated with murine and human GATA4 mutation.
Journal of molecular and cellular cardiology 2007;43(6):677-85.
2007: Jayaprakash D Karkera; J S Lee; Erich Roessler; Sharmila Banerjee-Basu; Maia V Ouspenskaia; J Mez; Elizabeth Goldmuntz; P Bowers; Jeffrey A Towbin; J W Belmont; Andreas D Baxevanis; Alexander F Schier; Maximilian Muenke
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
American journal of human genetics 2007;81(5):987-94.
2007: Mary Ella Pierpont; Craig T Basson; D Woodrow Benson; Bruce D Gelb; Therese M Giglia; Elizabeth Goldmuntz; Glenn Edwards McGee; Craig A Sable; Deepak Srivastava; Catherine Webb
Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.
Circulation 2007;115(23):3015-38.
2006: Elizabeth Goldmuntz; Elizabeth Moore; Nancy B Spinner
The cardiovascular manifestations of Alagille syndrome and JAGI mutations.
Methods in molecular medicine 2006;126():217-31.
2005: Tiffanie R Johnson; Elizabeth Goldmuntz; Donna M McDonald-McGinn; Elaine H Zackai; Mark A Fogel
Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22q11.2 deletion.
The American journal of cardiology 2005;96(12):1726-30.
2005: Elizabeth Goldmuntz
DiGeorge syndrome: new insights.
Clinics in perinatology 2005;32(4):963-78, ix-x.
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: Nadja Muncke; Beate Niesler; Ralph Roeth; Karin Schön; Heinz-Juergen Rüdiger; Elizabeth Goldmuntz; Judith Goodship; Gudrun Rappold
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).
BMC medical genetics 2005;6():20.
2005: Donna M McDonald-McGinn; Nancy Minugh-Purvis; Richard E Kirschner; Abbas Jawad; Melissa K Tonnesen; Jason R Catanzaro; Elizabeth Goldmuntz; Deborah Driscoll; Don LaRossa; Beverly S Emanuel; Elaine H Zackai
The 22q11.2 deletion in African-American patients: an underdiagnosed population?
American journal of medical genetics. Part A 2005;134(3):242-6.
2004: Elizabeth Goldmuntz
The genetic contribution to congenital heart disease.
Pediatric clinics of North America 2004;51(6):1721-37, x.
2003: Nadja Muncke; Christine Jung; Heinz Rüdiger; Herbert Ulmer; Ralph Roeth; Annette Hubert; Elizabeth Goldmuntz; Deborah Driscoll; Judith Goodship; Karin Schön; Gudrun Rappold
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).
Circulation 2003;108(23):2843-50.
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: Doff B McElhinney; Elizabeth Geiger; Joshua Blinder; D Woodrow Benson; Elizabeth Goldmuntz
NKX2.5 mutations in patients with congenital heart disease.
Journal of the American College of Cardiology 2003;42(9):1650-5.
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: Wayne Tworetzky; Doff B McElhinney; Rene Margossian; Anita J Moon-Grady; Denver Sallee; Elizabeth Goldmuntz; Mary E van der Velde; Norman H Silverman; Lindsay D Allan
Association between cardiac tumors and tuberous sclerosis in the fetus and neonate.
The American journal of cardiology 2003;92(4):487-9.
2003: Susan W Robinson; Cynthia Morris; Elizabeth Goldmuntz; Mark Reller; Melanie A Jones; Robert D Steiner; Cheryl L Maslen
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.
American journal of human genetics 2003;72(4):1047-52.
2002: Doff B McElhinney; Michele Straka; Elizabeth Goldmuntz; Elaine H Zackai
Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome.
American journal of medical genetics 2002;113(3):238-41.
2002: Doff B McElhinney; Ian D Krantz; Lynn Bason; David A Piccoli; Karan M Emerick; Nancy B Spinner; Elizabeth Goldmuntz
Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.
Circulation 2002;106(20):2567-74.
2002: Doff B McElhinney; Ian Jacobs; Donna M McDonald-McGinn; Elaine H Zackai; Elizabeth Goldmuntz
Chromosomal and cardiovascular anomalies associated with congenital laryngeal web.
International journal of pediatric otorhinolaryngology 2002;66(1):23-27.
2002: Elizabeth Goldmuntz; Richard N Bamford; Jayaprakash D Karkera; June dela Cruz; Erich Roessler; Maximilian Muenke
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
American journal of human genetics 2002;70(3):776-80.
2002: Katy Hoess; Elizabeth Goldmuntz; Reed E Pyeritz
Genetic counseling for congenital heart disease: new approaches for a new decade.
Current cardiology reports 2002;4(1):68-75.
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: Doff B McElhinney; Donna McDonald-McGinn; Elaine H Zackai; Elizabeth Goldmuntz
Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age.
Pediatrics 2001;108(6):E104.
2001: Elizabeth Goldmuntz; Elizabeth Geiger; D Woodrow Benson
NKX2.5 mutations in patients with tetralogy of fallot.
Circulation 2001;104(21):2565-8.
2001: Doff B McElhinney; AK Hoydu; J W Gaynor; T L Spray; Elizabeth Goldmuntz; Paul M Weinberg
Patterns of right aortic arch and mirror-image branching of the brachiocephalic vessels without associated anomalies.
Pediatric cardiology 2001;22(4):285-91.
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: Elizabeth Goldmuntz
The epidemiology and genetics of congenital heart disease.
Clinics in perinatology 2001;28(1):1-10.
1999: Elizabeth Goldmuntz
Recent advances in understanding the genetic etiology of congenital heart disease.
Current opinion in pediatrics 1999;11(5):437-43.
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: Ian D Krantz; R Smith; Raymond P Colliton; H Tinkel; E H Zackai; David A Piccoli; Elizabeth Goldmuntz; Nancy B Spinner
Jagged1 mutations in patients ascertained with isolated congenital heart defects.
American journal of medical genetics 1999;84(1):56-60.
1999: Karan M Emerick; Elizabeth B Rand; Elizabeth Goldmuntz; Ian D Krantz; Nancy B Spinner; David A Piccoli
Features of Alagille syndrome in 92 patients: frequency and relation to prognosis.
Hepatology (Baltimore, Md.) 1999;29(3):822-9.
1999: Donna M McDonald-McGinn; Richard E Kirschner; Elizabeth Goldmuntz; K Sullivan; PS Eicher; Marsha Gerdes; Edward Moss; Cynthia B Solot; Peter Wang; I Jacobs; Steven D Handler; C Knightly; K Heher; M Wilson; Jeffrey E Ming; K Grace; Deborah Driscoll; Patrick S Pasquariello; Peter Randall; Don LaRossa; Beverly S Emanuel; Elaine H Zackai
The Philadelphia story: the 22q11.2 deletion: report on 250 patients.
Genetic counseling (Geneva, Switzerland) 1999;10(1):11-24.
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.
1997: Jack Rychik; Mark A Fogel; Mary T Donofrio; Elizabeth Goldmuntz; Meryl S Cohen; Thomas L Spray; Marshall L Jacobs
Comparison of patterns of pulmonary venous blood flow in the functional single ventricle heart after operative aortopulmonary shunt versus superior cavopulmonary shunt.
The American journal of cardiology 1997;80(7):922-6.
1997: Elizabeth Goldmuntz; Jason Fedon; B Roe; Marcia L Budarf
Molecular characterization of a serine/threonine kinase in the DiGeorge minimal critical region.
Gene 1997;198(1-2):379-86.
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: Elizabeth Goldmuntz; Beverly S Emanuel
Genetic disorders of cardiac morphogenesis. The DiGeorge and velocardiofacial syndromes.
Circulation research 1997;80(4):437-43.
1997: Donna M McDonald-McGinn; Don LaRossa; Elizabeth Goldmuntz; K Sullivan; PS Eicher; Marsha Gerdes; Edward Moss; Peter Wang; Cynthia B Solot; P Schultz; D Lynch; Peter M Bingham; Gregory F Keenan; Stuart A Weinzimer; Jeffrey E Ming; Deborah Driscoll; Bernard J Clark; Richard Markowitz; A Cohen; Thomas Moshang; Patrick S Pasquariello; Peter Randall; Beverly S Emanuel; Elaine H Zackai
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.
Genetic testing 1997;1(2):99-108.
1996: Marcia L Budarf; B Eckman; D Michaud; T McDonald; S Gavigan; K H Buetow; Y Tatsumura; Z Liu; C Hilliard; Deborah Driscoll; Elizabeth Goldmuntz; E Meese; E C Zwarthoff; S Williams; Heather E McDermid; Jan P Dumanski; Jaclyn A Biegel; C J Bell; Beverly S Emanuel
Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel.
Genomics 1996;35(2):275-88.
1996: Elizabeth Goldmuntz; Z Wang; B A Roe; Marcia L Budarf
Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region.
Genomics 1996;33(2):271-6.
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: Elizabeth Goldmuntz; Deborah Driscoll; Marcia L Budarf; E H Zackai; D M McDonald-McGinn; Jaclyn A Biegel; Beverly S Emanuel
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.
Journal of medical genetics 1993;30(10):807-12.
1993: Beverly S Emanuel; Deborah Driscoll; Elizabeth Goldmuntz; S Baldwin; Jaclyn A Biegel; E H Zackai; D McDonald-McGinn; BT Sellinger; N Gorman; S Williams
Molecular and phenotypic analysis of the chromosome 22 microdeletion syndromes.
Progress in clinical and biological research 1993;384():207-24.