Ganglioglioma in a Sotos syndrome patient with an NSD1 deletionDEARDORFF, Matthew A; MAISENBACHER, Melissa; ZACKAI, Elaine H et al.American journal of medical genetics. 2004, Vol 130A, Num 4, pp 393-394, issn 0148-7299, 2 p.Article

Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndromeMCELHINNEY, Doff B; STRAKA, Michele; GOLDMUNTZ, Elizabeth et al.American journal of medical genetics. 2002, Vol 113, Num 3, pp 238-241, issn 0148-7299, 4 p.Article

A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and teebi syndromesHOFFMAN, Jodi D; IRONS, Mira; SCHWARTZ, Charles E et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 12, pp 1282-1286, issn 1552-4825, 5 p.Article

Autoimmune disorders in Kabuki syndromeMING, Jeffrey E; RUSSELL, Karen L; MCDONALD-MCGINN, Donna M et al.American journal of medical genetics. 2005, Vol 132A, Num 3, pp 260-262, issn 0148-7299, 3 p.Article

Syndrome-Specific Growth Charts for 22q11.2 Deletion Syndrome in Caucasian ChildrenHABEL, Alex; MCGINN, Michael-John; ZACKAI, Elaine H et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2665-2671, issn 1552-4825, 7 p.Article

Aortic Root Dilation in Patients With 22q11.2 Deletion SyndromeJOHN, Anitha S; MCDONALD-MCGINN, Donna M; ZACKAI, Elaine H et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 5, pp 939-942, issn 1552-4825, 4 p.Article

Chromosomal and cardiovascular anomalies associated with congenital laryngeal webMCELHINNEY, Doff B; JACOBS, Ian; MCDONALD-MCGINN, Donna M et al.International journal of pediatric otorhinolaryngology. 2002, Vol 66, Num 1, pp 23-27, issn 0165-5876Article

Developmental Anomalies With Features of Disorganization (Ds) and Amniotic Band Sequence (ABS): A Report of Four CasesPURANDARE, Smita M; ERNST, Linda; MEDNE, Livija et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 8, pp 1740-1748, issn 1552-4825, 9 p.Article

1.9 Mb Microdeletion of 21q22.11 Within Braddock―Carey Contiguous Gene Deletion Syndrome Region: Dissecting the PhenotypeIZUMI, Kosuke; BROOKS, Susan S; FERET, Holly A et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 7, pp 1535-1541, issn 1552-4825, 7 p.Article

GENETIC COUNSELING FOR THE 22Q11.2 DELETIONMCDONALD-MCGINN, Donna M; ZACKAI, Elaine H.Developmental disabilities research reviews. 2008, Vol 14, Num 1, pp 69-74, 6 p.Article

Digeorge anomaly in a patient with isochromosome 18p born to a diabetic motherDEBERARDINIS, Ralph J; MEDNE, Livija; SPINNER, Nancy B et al.American journal of medical genetics. 2005, Vol 138A, Num 2, pp 155-159, issn 0148-7299, 5 p.Article

The 22q11.2 deletion syndromeEMANUEL, Beverly S; MCDONALD-MCGINN, Donna; SAITTA, Sulagna C et al.Advances in pediatrics. 2001, Vol 48, pp 39-73, issn 0065-3101Article

Ablepharon―Macrostomia Syndrome—Extension of the PhenotypeKALLISH, Staci; MCDONALD-MCGINN, Donna M; VAN HAELST, Mieke M et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 12, pp 3060-3062, issn 1552-4825, 3 p.Article

Metopic Craniosynostosis Due To Mutations in GLI3: Novel AssociationMCDONALD-MCGINN, Donna M; FERET, Holly; NAH, Hyun-Duck et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 7, pp 1654-1660, issn 1552-4825, 7 p.Article

The Natural History of Patients Treated for FGFR3-Associated (Muenke-Type) CraniosynostosisBARBERA HONNEBIER, M; CABILING, David S; HETLINGER, Maria et al.Plastic and reconstructive surgery (1963). 2008, Vol 121, Num 3, pp 919-931, issn 0032-1052, 13 p.Article

Cardiac magnetic resonance imaging for accurate diagnosis of aortic arch anomalies in patients with 22qll.2 deletionJOHNSON, Tiffanie R; GOLDMUNTZ, Elizabeth; MCDONALD-MCGINN, Donna M et al.The American journal of cardiology. 2005, Vol 96, Num 12, pp 1726-1730, issn 0002-9149, 5 p.Article

Long-term follow-up of three individuals with Kabuki syndromeSHALEV, Stavit A; CLARKE, Lorne A; KOEHN, David et al.American journal of medical genetics. 2004, Vol 125A, Num 2, pp 191-200, issn 0148-7299, 10 p.Article

Early ultrasound diagnosis of Neu-Laxova syndromeRODE, Martha E; MENNUTI, Michael T; GIARDINE, Rose M et al.Prenatal diagnosis. 2001, Vol 21, Num 7, pp 575-580, issn 0197-3851Article

Cleft lip and palate repair in hay-wells/ankyloblepharon-ectodermal dysplasia-clefting syndromeCABILING, David S; YAN, Albert C; MCDONALD-MCGINN, Donna M et al.The Cleft palate-craniofacial journal. 2007, Vol 44, Num 3, pp 335-339, issn 1055-6656, 5 p.Article

Myoclonus in a patient with a deletion of the ε-sarcoglycan locus on chromosome 7q21DEBERARDINIS, Ralph J; CONFORTO, Danielle; RUSSELL, Karen et al.American journal of medical genetics. 2003, Vol 121A, Num 1, pp 31-36, issn 0148-7299, 6 p.Article

Further Evidence for the Possible Role of MEIS2 in the Development of Cleft Palate and Cardiac SeptumCROWLEY, Moira A; CONLIN, Laura K; ZACKAI, Elaine H et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 5, pp 1326-1327, issn 1552-4825, 2 p.Article

Primary amenorrhea and absent uterus in the 22qll.2 deletion syndromeSUNDARAM, Usha T; MCDONALD-MCGINN, Donna M; HUFF, Dale et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 17, pp 2016-2018, issn 1552-4825, 3 p.Article

Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 Syndrome): Clinical Features of 63 IndividualsCARTER, Melissa T; ST. PIERRE, Stephanie A; ZACKAI, Elaine H et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 8, pp 1712-1721, issn 1552-4825, 10 p.Article

Three Patients With Oculo-Auriculo-Vertebral Spectrum and Microdeletion 22q11.2DIGILIO, M. Cristina; MCDONALD-MCGINN, Donna M; HEIKE, Carrie et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 12, pp 2860-2864, issn 1552-4825, 5 p.Article

The Natural History of Patients Treated for TWIST1-Confirmed Saethre-Chotzen SyndromeFOO, Roy; YIFAN GUO; MCDONALD-MCGINN, Donna M et al.Plastic and reconstructive surgery (1963). 2009, Vol 124, Num 6, pp 2085-2095, issn 0032-1052, 11 p.Conference Paper