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Elaine Zackai

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Naiara Akizu; Asma Al-Tawari; Laila Bastaki; Tawfeg Ben-Omran; Laura K Conlin; Gilberto da Gente; Matthew A Deardorff; Stacey Gabriel; Margaret A Horton; Roshan Koul; Jiang Li; Elizabeth Nickerson; Rasim Ozgur Rosti; Eric Scott; Nuri M Shembesh; Elliott H Sherr; Emily Spencer; Elaine H Zackai; Maha S Zaki; Joseph G Gleeson
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
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.
Donna M McDonald-McGinn; Elisabeth Mlynarski; Beata A Nowakowska; Timothée Revil; Joshua Suhl; Kathleen E Sullivan; Joris R Vermeesch; Stephen T Warren; Albert C Yan; Elaine H Zackai; Alice Bailey; Larissa T Bilaniuk; Beverly S Emanuel; Somayyeh Fahiminiya; David R Lynch; Loydie A Jerome-Majewska
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

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All Publications

2013: Naiara Akizu; Asma Al-Tawari; Laila Bastaki; Tawfeg Ben-Omran; Laura K Conlin; Gilberto da Gente; Matthew A Deardorff; Stacey Gabriel; Margaret A Horton; Roshan Koul; Jiang Li; Elizabeth Nickerson; Rasim Ozgur Rosti; Eric Scott; Nuri M Shembesh; Elliott H Sherr; Emily Spencer; Elaine H Zackai; Maha S Zaki; Joseph G Gleeson
Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.
American journal of human genetics 2013;92(3):392-400.
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.
2013: Donna M McDonald-McGinn; Elisabeth Mlynarski; Beata A Nowakowska; Timothée Revil; Joshua Suhl; Kathleen E Sullivan; Joris R Vermeesch; Stephen T Warren; Albert C Yan; Elaine H Zackai; Alice Bailey; Larissa T Bilaniuk; Beverly S Emanuel; Somayyeh Fahiminiya; David R Lynch; Loydie A Jerome-Majewska
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
Journal of medical genetics 2013;50(2):80-90.
2013: Kosuke Izumi; Surabhi Mulchandani; Avni B Santani; Nancy B Spinner; Catherine A Stolle; Brian D Thiel; Tanya Tischler; Elaine H Zackai; Matthew A Deardorff; Holly A Feret; Laura K Conlin
Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.
American journal of medical genetics. Part A 2013;161A(1):166-71.
2013: Josine C C Widdershoven; Elaine H Zackai; Frits A Beemer; Mark Bowser; Marcella Devoto; Richard E Kirschner; Donna M McDonald-McGinn; Bernice E Morrow; Molly B Sheridan; Cynthia B Solot; Beverly S Emanuel
A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.
International journal of pediatric otorhinolaryngology 2013;77(1):123-7.
2012: Laura K Conlin; Matthew A Deardorff; Hakon Hakonarson; Kosuke Izumi; Maninder Kaur; Phillip Pallister; Nancy B Spinner; Alisha Wilkens; Elaine H Zackai; Lindsey Campbell; Dinah Clark; Ian D Krantz
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.
American journal of medical genetics. Part A 2012;158A(12):3046-53.
2012: Kosuke Izumi; Donna Berrodin; Laura K Conlin; Christopher Fincher; Chad Haldeman-Englert; Sulagna C Saitta; Nancy B Spinner; Alisha Wilkens; Elaine H Zackai; Ian D Krantz
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region.
American journal of medical genetics. Part A 2012;158A(12):3033-45.
2012: Mauro Longoni; Maria Loscertales; Faouzi I Maalouf; Kristin M Noonan; Ji H Park; Alan Rope; Meaghan K Russell; Osamu Shimokawa; Bernarda Strauss; Adam A Tracy; Dagmar Wieczorek; Elaine H Zackai; Omar A Abdul-Rahman; Gareth Baynam; Steven B Bleyl; Paul D Brady; Jeroen Breckpot; Chih P Chen; Caroline M Coletti; koenraad devriendt; Patricia K Donahoe; Gabriele Gillessen-Kaesbach; Arthur W Grix; Kasper Lage; Charles Lee; Barbara R Pober
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
American journal of medical genetics. Part A 2012;158A(12):3148-58.
2012: Alex Habel; Michael-John McGinn; Nancy Unanue; Elaine H Zackai; Donna M McDonald-McGinn
Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children.
American journal of medical genetics. Part A 2012;158A(11):2665-71.
2012: Kosuke Izumi; Susan S Brooks; Holly A Feret; Elaine H Zackai
1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.
American journal of medical genetics. Part A 2012;158A(7):1535-41.
2012: Duncan B Sparrow; Elaine H Zackai; Benjamin A Alman; Gavin Chapman; John P Dormans; Ryoichiro Kageyama; Kenro Kusumi; Joelene A Major; Muhammad Z Mattar; Lesley McGregor; Victoria C O'Reilly; Yumiko Saga; Allanceson J Smith; Sally L Dunwoodie
A mechanism for gene-environment interaction in the etiology of congenital scoliosis.
Cell 2012;149(2):295-306.
2012: Chad R Haldeman-Englert; Alisha Biser; Elaine H Zackai; Jeffrey E Ming
Revision of "A 223-kb de novo deletion of PAX9 in a patient with oligodontia".
The Journal of craniofacial surgery 2012;23(2):e149-51.
2012: Daniel S Kim; Deborah A Nickerson; Susan C Nicolson; Ramakrishnan Rajagopalan; Cynthia B Solot; Ian B Stanaway; Elaine H Zackai; Judy C Bernbaum; Nancy Burnham; Robert R Clancy; J William Gaynor; Marsha Gerdes; Hakon Hakonarson; Gail P Jarvik
Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy.
PloS one 2012;7(9):e45936.
2011: Staci Kallish; James A Katowitz; Donna M McDonald-McGinn; Mieke M van Haelst; Scott P Bartlett; Elaine H Zackai
Ablepharon-Macrostomia syndrome--extension of the phenotype.
American journal of medical genetics. Part A 2011;155A(12):3060-2.
2011: Robert Daber; Hakon Hakonarson; Stefanie Kasperski; Surabhi Mulchandani; Eduardo Ruchelli; Kimberly A Chapman; Laura K Conlin; Brian D Thiel; Elaine H Zackai; Nancy B Spinner
Mosaic trisomy 17: variable clinical and cytogenetic presentation.
American journal of medical genetics. Part A 2011;155A(10):2489-95.
2011: Simeon Boyd; C Haldeman-Englert; S Hamamoto; A Hata; S-D Kim; C Naydenov; R W Schekman; Elaine H Zackai; Jinoh Kim
Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.
Clinical genetics 2011;80(2):169-76.
2011: Emily Spencer; Julia Davis; Fady Mikhail; Chuanhua Fu; Raymon Vijzelaar; Elaine H Zackai; Holly Feret; M Stephen Meyn; Andrea Shugar; Gary Bellus; Kristina Kocsis; Sirpa Kivirikko; Minna Pöyhönen; Ludwine MESSIAEN
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.
American journal of medical genetics. Part A 2011;155A(6):1352-9.
2010: Gerard P Barry; Betina Mucha-Le Ny; Elaine H Zackai; Lili Grunwald; Brian J Forbes
A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings.
Ophthalmic genetics 2010;31(4):193-5.
2010: Matthew G Sampson; Curtis R Coughlin; Paige Kaplan; Laura K Conlin; Kevin E C Meyers; Elaine H Zackai; Nancy B Spinner; Lawrence Copelovitch
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.
American journal of medical genetics. Part A 2010;152A(10):2618-22.
2010: Molly B Sheridan; Takema Kato; Chad Haldeman-Englert; G Reza Jalali; Jeff M Milunsky; Ying Zou; Ruediger Klaes; Georgio Gimelli; stefania gimelli; Robert M Gemmill; Harry A Drabkin; April M Hacker; Julia Brown; David Tomkins; Tamim H Shaikh; Hiroki Kurahashi; Elaine H Zackai; Beverly S Emanuel
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).
American journal of human genetics 2010;87(2):209-18.
2010: Donna M McDonald-McGinn; Holly Feret; Hyun-Duck Nah; Scott P Bartlett; Linton A Whitaker; Elaine H Zackai
Metopic craniosynostosis due to mutations in GLI3: A novel association.
American journal of medical genetics. Part A 2010;152A(7):1654-60.
2010: Tamae Ohye; Hidehito Inagaki; Hiroshi Kogo; Makiko Tsutsumi; Takema Kato; Maoqing Tong; Merryn V E Macville; Livija Medne; Elaine H Zackai; Beverly S Emanuel; Hiroki Kurahashi
Paternal origin of the de novo constitutional t(11;22)(q23;q11).
European journal of human genetics : EJHG 2010;18(7):783-7.
2010: Chad R Haldeman-Englert; Alisha Biser; Elaine H Zackai; Jeffrey E Ming
A 223-kb de novo deletion of PAX9 in a patient with oligodontia.
The Journal of craniofacial surgery 2010;21(3):837-9.
2010: Moira A Crowley; Laura K Conlin; Elaine H Zackai; Matthew A Deardorff; Brian D Thiel; Nancy B Spinner
Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum.
American journal of medical genetics. Part A 2010;152A(5):1326-7.
2010: Laura K Conlin; Brian D Thiel; Carsten G Bonnemann; Livija Medne; Linda M Ernst; Elaine H Zackai; Matthew A Deardorff; Ian D Krantz; Hakon Hakonarson; Nancy B Spinner
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
Human molecular genetics 2010;19(7):1263-75.
2010: Chad R Haldeman-Englert; Kimberly A Chapman; Hillary Kruger; Elizabeth A Geiger; Donna M McDonald-McGinn; Eric Rappaport; Elaine H Zackai; Nancy B Spinner; Tamim H Shaikh
A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.
American journal of medical genetics. Part A 2010;152A(1):196-202.
2009: Roy Foo; Yifan Guo; Donna M McDonald-McGinn; Elaine H Zackai; Linton A Whitaker; Scott P Bartlett
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome.
Plastic and reconstructive surgery 2009;124(6):2085-95.
2009: M Cristina Digilio; Donna M McDonald-McGinn; Carrie Heike; Charles Catania; Bruno Dallapiccola; Bruno Marino; Elaine H Zackai
Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2.
American journal of medical genetics. Part A 2009;149A(12):2860-4.
2009: Edith M Jolin; Ronald A Weller; Naushad R Jessani; Elaine H Zackai; Donna M McDonald-McGinn; Elizabeth B Weller
Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome.
Journal of affective disorders 2009;119(1-3):177-80.
2009: Jean A Ballweg; Richard F Ittenbach; Judy Bernbaum; Marsha Gerdes; Troy E Dominguez; Elaine H Zackai; Robert R Clancy; J William Gaynor
Hyperglycaemia after Stage I palliation does not adversely affect neurodevelopmental outcome at 1 year of age in patients with single-ventricle physiology.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2009;36(4):688-93.
2009: Chad R Haldeman-Englert; Taiyabah Naeem; Elizabeth A Geiger; Ashley Warnock; Holly Feret; Melissa Ciano; Stefanie L Davidson; Matthew A Deardorff; Elaine H Zackai; Tamim H Shaikh
A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.
American journal of medical genetics. Part A 2009;149A(8):1842-5.
2009: Melissa T Carter; Stephanie A St Pierre; Elaine H Zackai; Beverly S Emanuel; Kym M Boycott
Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals.
American journal of medical genetics. Part A 2009;149A(8):1712-21.
2009: Smita M Purandare; Linda Ernst; Livija Medne; Dale S Huff; Elaine H Zackai
Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases.
American journal of medical genetics. Part A 2009;149A(8):1740-8.
2009: Chad R Haldeman-Englert; Xiaowu Gai; Juan Carlos Perin; Melissa Ciano; Sara S Halbach; Elizabeth A Geiger; Donna M McDonald-McGinn; Hakon Hakonarson; Elaine H Zackai; Tamim H Shaikh
A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.
European journal of medical genetics 2009;52(4):265-8.
2009: Soma Jyonouchi; Donna M McDonald-McGinn; Sherri Bale; Elaine H Zackai; Kathleen E Sullivan
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
Pediatrics 2009;123(5):e871-7.
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.
2008: David Chitayat; Sarah Keating; Dina J Zand; Teresa Costa; Elaine H Zackai; Earl Silverman; George Tiller; Sheila Unger; Stephen Miller; John Kingdom; Ants Toi; Cynthia J R Curry
Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases.
American journal of medical genetics. Part A 2008;146A(23):3038-53.
2008: Deeann Wallis; Felicitas Lacbawan; Mahim Jain; Vazken M Der Kaloustian; Carlos E Steiner; John B Moeschler; Wolfgang Losken; Ilkka I Kaitila; Stephen Cantrell; Virginia K Proud; John C Carey; Donald W Day; Dorit Lev; Ahmad S Teebi; Luther Knox Robinson; H Eugene Hoyme; Nadia Al-Torki; Jacqueline Siegel-Bartelt; John B Mulliken; Nathaniel H Robin; Dolores Saavedra; Elaine H Zackai; Maximilian Muenke
Additional EFNB1 mutations in craniofrontonasal syndrome.
American journal of medical genetics. Part A 2008;146A(15):2008-12.
2008: Jesse Selber; Russell R Reid; Chuma J Chike-Obi; Leslie N Sutton; Elaine H Zackai; Donna McDonald-McGinn; Seema S Sonnad; Linton A Whitaker; Scott P Bartlett
The changing epidemiologic spectrum of single-suture synostoses.
Plastic and reconstructive surgery 2008;122(2):527-33.
2008: Gil Binenbaum; Donna M McDonald-McGinn; Elaine H Zackai; B Michael Walker; Karlene Coleman; Amy M Mach; Margaret Adam; Melanie Manning; Deborah M Alcorn; Carrie Zabel; Dennis R Anderson; Brian J Forbes
Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
American journal of medical genetics. Part A 2008;146(7):904-9.
2008: Chirag R Kapadia; Yuran E Kim; Donna M McDonald-McGinn; Elaine H Zackai; Lorraine E Levitt Katz
Parathyroid hormone reserve in 22q11.2 deletion syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(3):224-8.
2008: M Barbera Honnebier; David S Cabiling; Maria Hetlinger; Donna M McDonald-McGinn; Elaine H Zackai; Scott P Bartlett
The natural history of patients treated for FGFR3-associated (Muenke-type) craniosynostosis.
Plastic and reconstructive surgery 2008;121(3):919-31.
2008: Donna M McDonald-McGinn; Elaine H Zackai
Genetic counseling for the 22q11.2 deletion.
Developmental disabilities research reviews 2008;14(1):69-74.
2008: Blake C Ballif; Aaron Theisen; Justine Coppinger; Gordon C Gowans; Joseph H Hersh; Suneeta Madan-Khetarpal; Karen R Schmidt; Raymond Tervo; Luis F Escobar; Christopher A Friedrich; Marie McDonald; Lindsey Campbell; Jeffrey E Ming; Elaine H Zackai; Bassem A Bejjani; Lisa Shaffer
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
Molecular cytogenetics 2008;1():8.
2007: Emily S Doherty; Felicitas Lacbawan; Donald W Hadley; Carmen Brewer; Christopher K Zalewski; H Jeff Kim; Beth Solomon; Kenneth Rosenbaum; Demetrio L Domingo; Thomas Hart; Brian P Brooks; Ladonna Immken; R Brian Lowry; Virginia E Kimonis; Alan L Shanske; Fernanda Sarquis Jehee; Maria Rita Passos Bueno; Carol Knightly; Donna McDonald-McGinn; Elaine H Zackai; Maximilian Muenke
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
American journal of medical genetics. Part A 2007;143A(24):3204-15.
2007: Michael A Simpson; R Hsu; L S Keir; J Hao; G Sivapalan; L M Ernst; Elaine H Zackai; L I Al-Gazali; G Hulskamp; H M Kingston; T E Prescott; Andra Ion; Michael A Patton; Victoria Murday; Anne George; Andrew H Crosby
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.
American journal of human genetics 2007;81(5):906-12.
2007: Blake C Ballif; Sara A Hornor; Elizabeth Jenkins; Suneeta Madan-Khetarpal; Urvashi Surti; Kelly E Jackson; Alexander Asamoah; Pamela L Brock; Gordon C Gowans; Robert L Conway; John M Graham; Livija Medne; Elaine H Zackai; Tamim H Shaikh; Joel Geoghegan; Rebecca R Selzer; Peggy S Eis; Bassem A Bejjani; Lisa Shaffer
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Nature genetics 2007;39(9):1071-3.
2007: Usha T Sundaram; Donna M McDonald-McGinn; Dale Huff; Beverly S Emanuel; Elaine H Zackai; Deborah A Driscoll; Joann Bodurtha
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome.
American journal of medical genetics. Part A 2007;143A(17):2016-8.
2007: Eric M Jackson; Tamim H Shaikh; Fan Zhang; Luanne M Wainwright; Phillip B Storm; Hakon Hakonarson; Elaine H Zackai; Jaclyn A Biegel
Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome.
American journal of medical genetics. Part A 2007;143A(15):1767-70.
2007: Jodi D Hoffman; Mira Irons; Charles E Schwartz; Livija Medne; Elaine H Zackai
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.
American journal of medical genetics. Part A 2007;143A(12):1282-6.
2007: David S Cabiling; Albert C Yan; Donna M McDonald-McGinn; Elaine H Zackai; Richard E Kirschner
Cleft lip and palate repair in Hay-Wells/ankyloblepharon-ectodermal dysplasia-clefting syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2007;44(3):335-9.
2007: Lorraine Potocki; Weimin Bi; Diane Treadwell-Deering; Claudia M B Carvalho; Anna Eifert; Ellen M Friedman; Daniel G Glaze; Kevin Krull; Jennifer A Lee; Richard Alan Lewis; Roberto Mendoza-Londono; Patricia Robbins-Furman; Chad Shaw; Xin Shi; George Weissenberger; Marjorie Withers; Svetlana A Yatsenko; Elaine H Zackai; Pawel Stankiewicz; James R Lupski
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
American journal of human genetics 2007;80(4):633-49.
2007: Brian J Forbes; Gil Binenbaum; Jane C Edmond; Nicole DeLarato; Donna M McDonald-McGinn; Elaine H Zackai
Ocular findings in the chromosome 22q11.2 deletion syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2007;11(2):179-82.
2007: Alexei M C Machado; Tony J Simon; Vy Nguyen; Donna M McDonald-McGinn; Elaine H Zackai; James C Gee
Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome.
Brain research 2007;1131(1):197-210.
2006: Suzanne K Jadico; David A Young; Alexandra Huebner; Jane C Edmond; Avrum N Pollock; Donna M McDonald-McGinn; Yi-Ju Li; Elaine H Zackai; Terri L Young
Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2006;10(6):521-7.
2006: Nathaniel H Robin; Clare J Taylor; Donna M McDonald-McGinn; Elaine H Zackai; Peter M Bingham; Kevin J Collins; Dawn Earl; Deepak Gill; Tiziana Granata; Renzo Guerrini; Naomi Katz; Virginia E Kimonis; Jean-Pierre Lin; David R Lynch; Shehla N Mohammed; Roger F Massey; Marie McDonald; R. Curtis Rogers; Miranda Splitt; Cathy A Stevens; Marc Tischkowitz; Neil Stoodley; Richard J Leventer; Daniela T Pilz; William B Dobyns
Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
American journal of medical genetics. Part A 2006;140(22):2416-25.
2006: Suzanne K Jadico; Alexandra Huebner; Donna M McDonald-McGinn; Elaine H Zackai; Terri L Young
Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2006;10(5):435-44.
2006: Rachel A Ruotolo; Nestor A Veitia; Aaron M Corbin; Joseph McDonough; Cynthia B Solot; Donna McDonald-McGinn; Elaine H Zackai; Beverly S Emanuel; Avital Cnaan; Don LaRossa; Raanan Arens; Richard E Kirschner
Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006;43(4):446-56.
2006: Jeffrey E Ming; Elizabeth Geiger; Alison C James; Karen L Ciprero; Manjunath Nimmakayalu; Yi Zhang; Andrew Huang; Madhavi Vaddi; Eric F Rappaport; Elaine H Zackai; Tamim H Shaikh
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.
Human mutation 2006;27(5):467-73.
2006: Donna M McDonald-McGinn; Anne Reilly; Carina Wallgren-Pettersson; H Eugene Hoyme; Samuel P Yang; Margaret P Adam; Elaine H Zackai; Kathleen E Sullivan
Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
American journal of medical genetics. Part A 2006;140(8):906-9.
2006: Jia Huang; Jodi D Hoffman; Yi Zhang; Melissa K Maisenbacher; Elaine H Zackai; Barbara L Weber; Jeffrey E Ming
Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH.
Clinical genetics 2006;69(4):367-9.
2006: Karen W Gripp; Angela E Lin; Deborah L Stabley; Linda Nicholson; Charles I Scott; Daniel Doyle; Yoko Aoki; Yoichi Matsubara; Elaine H Zackai; Pablo Lapunzina; Antonio Gonzalez-Meneses; Jennifer Holbrook; Cynthia A Agresta; Iris L Gonzalez; Katia Sol-Church
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
American journal of medical genetics. Part A 2006;140(1):1-7.
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: Amanda Carré; Christopher Frantz; Rosanna Weksberg; Linda Nicholson; Lynn Ciarlo; Elaine H Zackai; Karen W Gripp
Wilms tumor in an 11-year-old with hemihyperplasia.
American journal of medical genetics. Part A 2005;139A(2):165-6.
2005: Ralph J DeBerardinis; Livija Medne; Nancy B Spinner; Elaine H Zackai
DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother.
American journal of medical genetics. Part A 2005;138A(2):155-9.
2005: Jennifer J D Morrissette; Livija Medne; Tyrone Bentley; Nancy L Owens; Elizabeth Geiger; Mary Pipan; Elaine H Zackai; Tamim H Shaikh; Nancy B Spinner
A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage.
American journal of medical genetics. Part A 2005;137(2):208-12.
2005: Sarah E Fine; Alison Weissman; Marsha Gerdes; Jennifer A Pinto-Martin; Elaine H Zackai; Donna M McDonald-McGinn; Beverly S Emanuel
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome.
Journal of autism and developmental disorders 2005;35(4):461-70.
2005: Donna M McDonald-McGinn; Karen W Gripp; Richard E Kirschner; Melissa K Maisenbacher; Virginia Hustead; Galen M Schauer; Kim Keppler-Noreuil; Karen L Ciprero; Patrick S Pasquariello; Don LaRossa; Scott P Bartlett; Linton A Whitaker; Elaine H Zackai
Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
American journal of medical genetics. Part A 2005;136A(4):358-62.
2005: Jodi D Hoffman; Karen L Ciprero; Kathleen E Sullivan; Paige B Kaplan; Donna M McDonald-McGinn; Elaine H Zackai; Jeffrey E Ming
Immune abnormalities are a frequent manifestation of Kabuki syndrome.
American journal of medical genetics. Part A 2005;135(3):278-81.
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.
2005: Melissa K Maisenbacher; Ji-Soo Han; Megan L O'Brien; Michael R Tracy; Bülent Erol; Alyssa A Schaffer; John P Dormans; Elaine H Zackai; Kenro Kusumi
Molecular analysis of congenital scoliosis: a candidate gene approach.
Human genetics 2005;116(5):416-9.
2005: Tony J Simon; Lijun Ding; Joel P Bish; Donna M McDonald-McGinn; Elaine H Zackai; James Gee
Volumetric, connective, and morphologic changes in the brains of children with chromosome 22q11.2 deletion syndrome: an integrative study.
NeuroImage 2005;25(1):169-80.
2005: Karen L Ciprero; Jill Clayton-Smith; Dian Donnai; Robert A Zimmerman; Elaine H Zackai; Jeffrey E Ming
Symptomatic Chiari I malformation in Kabuki syndrome.
American journal of medical genetics. Part A 2005;132A(3):273-5.
2005: Jeffrey E Ming; Karen L Russell; Donna M McDonald-McGinn; Elaine H Zackai
Autoimmune disorders in Kabuki syndrome.
American journal of medical genetics. Part A 2005;132A(3):260-2.
2005: Tony J Simon; Joel P Bish; Carrie E Bearden; Lijun Ding; Samantha Ferrante; Vy Nguyen; James C Gee; Donna M McDonald-McGinn; Elaine H Zackai; Beverly S Emanuel
A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children.
Development and psychopathology 2005;17(3):753-84.
2005: Jodi D Hoffman; Y Zhang; J Greshock; Karen L Ciprero; B S Emanuel; Elaine H Zackai; B L Weber; Jeffrey E Ming
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.
Journal of medical genetics 2005;42(1):49-53.
2004: Bülent Erol; Michael R Tracy; John P Dormans; Elaine H Zackai; Melissa K Maisenbacher; Megan L O'Brien; Peter D Turnpenny; Kenro Kusumi
Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis.
Journal of pediatric orthopedics 2004;24(6):674-82.
2004: Matthew A Deardorff; Melissa K Maisenbacher; Elaine H Zackai
Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.
American journal of medical genetics. Part A 2004;130A(4):393-4.
2004: Amy Kao; Juliana Mariani; Donna M McDonald-McGinn; Melissa K Maisenbacher; Amy R Brooks-Kayal; Elaine H Zackai; David R Lynch
Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion.
American journal of medical genetics. Part A 2004;129A(1):29-34.
2004: Eric T Ricchetti; Lisa States; Harish S Hosalkar; Junichi Tamai; Melissa K Maisenbacher; Donna M McDonald-McGinn; Elaine H Zackai; Denis S Drummond
Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome.
The Journal of bone and joint surgery. American volume 2004;86-A(8):1751-60.
2004: Douglas R Stewart; Alina Huang; Francesca Faravelli; Britt-Marie Anderlid; Livija Medne; Karen L Ciprero; Maninder Kaur; Elena Rossi; Romano Tenconi; Magnus Nordenskjöld; Karen W Gripp; Linda Nicholson; Wendy S Meschino; Esther Capua; Oliver W J Quarrell; Jonathon Flint; Mira Irons; Philip F Giampietro; David B Schowalter; Christina Zaleski; Michela Malacarne; Elaine H Zackai; Nancy B Spinner; Ian D Krantz
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
American journal of medical genetics. Part A 2004;128A(4):340-51.
2004: Dina J Zand; Dale S Huff; David Everman; Karen Russell; Sulagna C Saitta; Donna McDonald-McGinn; Elaine H Zackai
Autosomal dominant inheritance of infantile myofibromatosis.
American journal of medical genetics. Part A 2004;126A(3):261-6.
2004: Stavit A Shalev; Lorne A Clarke; David Koehn; Sylvie Langlois; Elaine H Zackai; Judith G Hall; Donna M McDonald-McGinn
Long-term follow-up of three individuals with Kabuki syndrome.
American journal of medical genetics. Part A 2004;125A(2):191-200.
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: Lisa M Piliero; Amy N Sanford; Donna M McDonald-McGinn; Elaine H Zackai; Kathleen E Sullivan
T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome.
Blood 2004;103(3):1020-5.
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.
2004: David A Stevenson; Theresa M Anaya; Jill Clayton-Smith; Bryan D Hall; Margot I Van Allen; Roberto T Zori; Elaine H Zackai; Gary Frank; Carol L Clericuzio
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.
American journal of medical genetics. Part A 2004;124A(2):158-64.
2003: Jennifer J D Morrissette; Ayala Laufer-Cahana; Livija Medne; Karen L Russell; Charles Venditti; Rochelle Kline; Elaine H Zackai; Nancy B Spinner
Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9.
American journal of medical genetics. Part A 2003;123A(3):279-84.
2003: Jeffrey E Ming; Karen L Russell; Lynn Bason; Donna M McDonald-McGinn; Elaine H Zackai
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.
American journal of medical genetics. Part A 2003;123A(3):249-52.
2003: J William Gaynor; Marsha Gerdes; Elaine H Zackai; Judy Bernbaum; Gil Wernovsky; Robert R Clancy; Mark F Newman; Ann M Saunders; Patrick J Heagerty; Jo Ann D'Agostino; Donna McDonald-McGinn; Susan C Nicolson; Thomas L Spray; Gail P Jarvik
Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery.
The Journal of thoracic and cardiovascular surgery 2003;126(6):1736-45.
2003: Elena E Perez; Aleksandra Bokszczanin; Donna McDonald-McGinn; Elaine H Zackai; Kathleen E Sullivan
Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Pediatrics 2003;112(4):e325.
2003: Karen W Gripp; Elaine H Zackai; M Michael Cohen
Clinical and molecular diagnosis should be consistent.
American journal of medical genetics. Part A 2003;121A(2):188-9.
2003: Ralph J DeBerardinis; Danielle Conforto; Karen Russell; Jennifer Kaplan; Peter R Kollros; Elaine H Zackai; Beverly S Emanuel
Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.
American journal of medical genetics. Part A 2003;121A(1):31-6.
2003: Carol L Clericuzio; Emily Chen; Dawn Elizabeth McNeil; Timothy O'Connor; Elaine H Zackai; Livija Medne; Gail Tomlinson; Michael R DeBaun
Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia.
The Journal of pediatrics 2003;143(2):270-2.
2003: Elaine H Zackai; Donna M McDonald-McGinn; Catherine Stolle; Dale S Huff
Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found.
Clinical dysmorphology 2003;12(3):209.
2003: Lisa L Wang; Anu Gannavarapu; Claudia A Kozinetz; Moise L Levy; Richard A Lewis; Murali Chintagumpala; Ramon Ruiz-Maldanado; Jose Contreras-Ruiz; Christopher Cunniff; Robert P Erickson; Dorit Lev; Maureen Rogers; Elaine H Zackai; Sharon E Plon
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
Journal of the National Cancer Institute 2003;95(9):669-74.
2003: Deepak Kamnasaran; Patricia C O'Brien; Elaine H Zackai; Maximilian Muenke; Malcolm A Ferguson-Smith; Diane W Cox
Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.
European journal of human genetics : EJHG 2003;11(4):315-24.
2003: Richard E Kirschner; David W Low; Peter Randall; Scott P Bartlett; Donna M McDonald-McGinn; Patricia J Schultz; Elaine H Zackai; Don LaRossa
Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion?
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2003;40(1):13-8.
2002: Hsi-Yang Wu; Susan L Rusnack; Richard D Bellah; Natalie Plachter; Donna M McDonald-McGinn; Elaine H Zackai; Douglas A Canning
Genitourinary malformations in chromosome 22q11.2 deletion.
The Journal of urology 2002;168(6):2564-5.
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 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: Andra Ion; Marco Tartaglia; Xiaoling Song; Kamini Kalidas; Ineke van der Burgt; Adam C Shaw; Jeffrey E Ming; Giuseppe Zampino; Elaine H Zackai; John C S Dean; Mirja Somer; Giancarlo Parenti; Andrew H Crosby; Michael A Patton; Bruce D Gelb; Steve Jeffery
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.
Human genetics 2002;111(4-5):421-7.
2002: Shinji Kondo; Brian C Schutte; Rebecca J Richardson; Bryan Bjork; Alexandra S Knight; Yoriko Watanabe; Emma Howard; Renata L L Ferreira de Lima; Sandra Daack-Hirsch; Achim Sander; Donna M McDonald-McGinn; Elaine H Zackai; Edward J Lammer; Arthur S Aylsworth; Holly H Ardinger; Andrew C Lidral; Barbara R Pober; Lina Moreno; Mauricio Arcos-Burgos; Consuelo Valencia; Claude Houdayer; Michel Bahuau; Danilo Moretti-Ferreira; Antonio Richieri-Costa; Michael J Dixon; Jeffrey C Murray
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Nature genetics 2002;32(2):285-9.
2002: Kathleen E Sullivan; Donna McDonald-McGinn; Elaine H Zackai
CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia.
Clinical and diagnostic laboratory immunology 2002;9(5):1129-31.
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.
2002: Karen W Gripp; Charles I Scott; Linda Nicholson; Donna M McDonald-McGinn; J Daniel Ozeran; Marilyn C Jones; Angela E Lin; Elaine H Zackai
Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.
American journal of medical genetics 2002;108(1):80-7.
2002: Shih-hsin Kan; Navaratnam Elanko; David Johnson; Laura Cornejo-Roldan; Jackie Cook; Elsa W Reich; Susan Tomkins; Alain Verloes; Stephen R F Twigg; Sahan V Rannan-Eliya; Donna M McDonald-McGinn; Elaine H Zackai; Steven A Wall; Maximilian Muenke; Andrew O M Wilkie
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
American journal of human genetics 2002;70(2):472-86.
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: 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: Karen W Gripp; Donna M McDonald-McGinn; D La Rossa; D McGain; Noah Federman; Adrianna Vlachos; Bertil E Glader; Steven E McKenzie; Jeffrey Lipton; Elaine H Zackai
Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia.
American journal of medical genetics 2001;101(3):268-74.
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: Karen W Gripp; V Kasparcova; Donna M McDonald-McGinn; S Bhatt; Scott P Bartlett; A L Storm; T C Drumheller; Beverly S Emanuel; Elaine H Zackai; Catherine Stolle
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(2):102-8.
2001: JD Morrissette; L Celle; Nancy L Owens; C L Shields; Elaine H Zackai; Nancy B Spinner
Boy with bilateral retinoblastoma due to an unusual ring chromosome 13 with activation of a latent centromere.
American journal of medical genetics 2001;99(1):21-8.
2001: Beverly S Emanuel; Donna McDonald-McGinn; Sulagna C Saitta; Elaine H Zackai
The 22q11.2 deletion syndrome.
Advances in pediatrics 2001;48():39-73.
2001: Cynthia B Solot; Marsha Gerdes; Richard E Kirschner; Donna M McDonald-McGinn; Edward Moss; MF Woodin; D Aleman; Elaine H Zackai; Paul P Wang
Communication issues in 22q11.2 deletion syndrome: children at risk.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(1):67-71.
2001: Marsha Gerdes; Cynthia B Solot; Paul P Wang; Donna M McDonald-McGinn; Elaine H Zackai
Taking advantage of early diagnosis: preschool children with the 22q11.2 deletion.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(1):40-4.
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.
2000: Kevin K Anbari; L A Ierardi-Curto; Jeff Silber; N Asada; Nancy B Spinner; Elaine H Zackai; Jean B Belasco; JD Morrissette; John P Dormans
Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome.
Clinical orthopaedics and related research 2000;(378):213-23.
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: K W Gripp; David Wotton; M C Edwards; Erich Roessler; L Ades; P Meinecke; A Richieri-Costa; Elaine H Zackai; J Massagué; Maximilian Muenke; S J Elledge
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
Nature genetics 2000;25(2):205-8.
2000: Elaine H Zackai; Karen W Gripp; Catherine Stolle
Craniosynostosis: molecular testing-a necessity for counseling.
American journal of medical genetics 2000;92(2):157.
2000: Jeffrey E Ming; N Blagowidow; J H Knoll; L Rollings; P Fortina; Donna M McDonald-McGinn; Nancy B Spinner; Elaine H Zackai
Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.
American journal of medical genetics 2000;92(1):19-24.
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.
2000: Karen W Gripp; Elaine H Zackai; Catherine Stolle
Mutations in the human TWIST gene.
Human mutation 2000;15(2):150-5.
1999: Tamim H Shaikh; Marcia L Budarf; L Celle; Elaine H Zackai; Beverly S Emanuel
Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families.
American journal of human genetics 1999;65(6):1595-607.
1999: 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: Sulagna C Saitta; J M McGrath; H Mensch; Tamim H Shaikh; Elaine H Zackai; Beverly S Emanuel
A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.
American journal of human genetics 1999;65(2):562-6.
1999: 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: D E Wallis; Erich Roessler; Ute Hehr; L Nanni; T Wiltshire; A Richieri-Costa; Gabriele Gillessen-Kaesbach; Elaine H Zackai; J Rommens; Maximilian Muenke
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
Nature genetics 1999;22(2):196-8.
1999: Karen W Gripp; Mason Barr; G Anadiotis; Donna M McDonald-McGinn; S A Zderic; Elaine H Zackai
Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.
American journal of medical genetics 1999;82(5):363-7.
1999: Michael Oldridge; Elaine H Zackai; Donna M McDonald-McGinn; Sachiko Iseki; Gillian M Morriss-Kay; Stephen R F Twigg; David Johnson; Steven A Wall; W Jiang; CHRISTIANE THEDA; Ethylin Jabs; Andrew O M Wilkie
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.
American journal of human genetics 1999;64(2):446-61.
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.
1999: Karen W Gripp; Catherine Stolle; L Celle; Donna M McDonald-McGinn; Linton A Whitaker; Elaine H Zackai
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
American journal of medical genetics 1999;82(2):170-6.
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: Elaine H Zackai; Catherine Stolle
A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.
American journal of human genetics 1998;63(5):1277-81.
1998: J E Ming; James A Katowitz; Donna M McDonald-McGinn; Rhonda E Schnur; J V Hunter; Elaine H Zackai
Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome.
Clinical dysmorphology 1998;7(4):279-83.
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: Karen W Gripp; Robert A Zimmerman; Zhiyue J Wang; Lucy B Rorke; Ann-Christine Duhaime; L Schut; PT Molloy; S H Tucker; Elaine H Zackai; M Muenke
Imaging studies in a unique familial dysmyelinating disorder.
AJNR. American journal of neuroradiology 1998;19(7):1368-72.
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: Karen W Gripp; Catherine Stolle; Donna M McDonald-McGinn; Richard Markowitz; Scott P Bartlett; James A Katowitz; Maximilian Muenke; Elaine H Zackai
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
American journal of medical genetics 1998;78(4):356-60.
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.
1997: Jeffrey E Ming; Donna M McDonald-McGinn; Richard Markowitz; Eduardo Ruchelli; Elaine H Zackai
Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.
American journal of medical genetics 1997;73(4):419-24.
1997: Michael Neil Needle; Avital Cnaan; J Dattilo; J Chatten; Peter C Phillips; Stephen J Shochat; Leslie N Sutton; S N Vaughan; Elaine H Zackai; Huaqing Zhao; PT Molloy
Prognostic signs in the surgical management of plexiform neurofibroma: the Children's Hospital of Philadelphia experience, 1974-1994.
The Journal of pediatrics 1997;131(5):678-82.
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: Marc R Del Bigio; Cheryl R Greenberg; L B Rorke; Rhonda E Schnur; D M McDonald-McGinn; Elaine H Zackai
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome.
Journal of neuropathology and experimental neurology 1997;56(10):1147-57.
1997: Gregory F Keenan; Kathleen E Sullivan; D M McDonald-McGinn; Elaine H Zackai
Arthritis associated with deletion of 22q11.2: more common than previously suspected.
American journal of medical genetics 1997;71(4):488.
1997: Karen W Gripp; Charles I Scott; H E Hughes; R Wallerstein; Linda Nicholson; Lisa States; Lynn Bason; P Kaplan; S A Zderic; Ann-Christine Duhaime; F Miller; M R Magnusson; Elaine H Zackai
Lateral meningocele syndrome: three new patients and review of the literature.
American journal of medical genetics 1997;70(3):229-39.
1997: JE Pellegrino; Donna M McDonald-McGinn; A Schneider; Richard Markowitz; Elaine H Zackai
Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?
American journal of medical genetics 1997;70(2):159-65.
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: 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: Karen W Gripp; D Donnai; C L Clericuzio; Donna M McDonald-McGinn; Marta Guttenberg; Elaine H Zackai
Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.
American journal of medical genetics 1997;68(4):441-4.
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.
1997: Michael Oldridge; P W Lunt; Elaine H Zackai; Donna M McDonald-McGinn; Maximilian Muenke; DM Moloney; Stephen R F Twigg; John Heath; Timothy Howard; George Hoganson; D M Gagnon; Ethylin Jabs; Andrew O M Wilkie
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Human molecular genetics 1997;6(1):137-43.