引用次数
引用: 34,180
H-指数: 97
I10-指数 : 327
出版物: 653
Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome.
James J. Yi , Sunny X. Tang , Donna M. McDonald-McGinn , Monica E. Calkins
American Journal of Medical Genetics 165 ( 2) 137 -147
15
2014
IQ and hemizygosity for the Val158Met functional polymorphism of COMT in 22q11DS
Colleen P. Franconi , Donna McDonald-McGinn , Elaine H. Zackai , Meghan A. McNamara
American Journal of Medical Genetics 171 ( 8) 1112 -1115
2
2016
Musical auditory processing, cognition, and psychopathology in 22q11.2 deletion syndrome.
Lucy Gao , Sunny X. Tang , James J. Yi , Donna M. McDonald-McGinn
American Journal of Medical Genetics 177 ( 8) 765 -773
1
2018
Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.
Cynthia B. Solot , Tyler M. Moore , Terrence Blaine Crowley , Marsha Gerdes
American Journal of Medical Genetics 183 ( 6) 392 -400
1
2020
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
Yingjie Zhao , Alexander Diacou , H. Richard Johnston , Fadi I. Musfee
American Journal of Human Genetics 106 ( 1) 26 -40
10
2020
Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.
Hidehito Inagaki , Tamae Ohye , Hiroshi Kogo , Kouji Yamada
Human Mutation 26 ( 4) 332 -342
34
2005
Nasal dimple as part of the 22q11.2 deletion syndrome
Karen W. Gripp , Donna M. McDonald-McGinn , Deborah A. Driscoll , Lori A. Reed
American Journal of Medical Genetics 69 ( 3) 290 -292
18
1997
Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome.
Marisela Jaquez , Deborah A. Driscoll , Mengrong Li , Beverly S. Emanuel
American Journal of Medical Genetics 70 ( 1) 6 -10
23
1997
Skeletal anomalies and deformities in patients with deletions of 22q11
Jeffrey E. Ming , Donna M. McDonald-McGinn , Tanya E. Megerian , Deborah A. Driscoll
American Journal of Medical Genetics 72 ( 2) 210 -215
69
1997
Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11
Peter M. Bingham , Robert A. Zimmerman , Donna McDonald-McGinn , Deborah Driscoll
American Journal of Medical Genetics 74 ( 5) 538 -543
54
1997
NEUROCOGNITIVE FUNCTIONING IN 22Q11.2 DELETION SYNDROME
Raquel E. Gur , Beverly S. Emanuel , James J. Yi , Donna M. McDonald-McGinn
Schizophrenia Research 153 S76
2014
Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients
Sean B. Herman , Tingwei Guo , Donna M. McDonald McGinn , Anna Blonska
American Journal of Medical Genetics Part A 158 ( 11) 2781 -2787
14
2012
Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays.
Marilyn M. Li , Manjunath A. Nimmakayalu , Danielle Mercer , Hans C. Andersson
American Journal of Medical Genetics Part A 146 ( 3) 368 -375
19
2008
Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals
Melissa T. Carter , Stephanie A. St. Pierre , Elaine H. Zackai , Beverly S. Emanuel
American Journal of Medical Genetics Part A 149 ( 8) 1712 -1721
51
2009
Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees.
Melissa T. Carter , Nicholas J. Barrowman , Stephanie A. St.Pierre , Beverly S. Emanuel
American Journal of Medical Genetics Part A 152 ( 1) 212 -214
6
2010
Effects of Comt Genotype on Behavioral Symptomatology in the 22q11.2 Deletion Syndrome
Carrie E. Bearden , Abbas F. Jawad , David R. Lynch , John R. Monterossso
Child Neuropsychology 11 ( 1) 109 -117
35
2005
Characterization of 10p Deletions Suggests Two Nonoverlapping Regions Contribute to the DiGeorge Syndrome Phenotype
Shoshanna Gottlieb , Deborah A. Driscoll , Hope H. Punnett , Beatrice Sellinger
American Journal of Human Genetics 62 ( 2) 495 -498
49
1998
Meiotic Recombination and Spatial Proximity in the Etiology of the Recurrent t(11;22)
Terry Ashley , Ann P. Gaeth , Hidehito Inagaki , Allen Seftel
American Journal of Human Genetics 79 ( 3) 524 -538
33
2006
Molecular genetics of 22q11.2 deletion syndrome
Bernice E. Morrow , Donna M. McDonald-McGinn , Beverly S. Emanuel , Joris R. Vermeesch
American Journal of Medical Genetics Part A 176 ( 10) 2070 -2081
27
2018
22q and two: 22q11.2 deletion syndrome and coexisting conditions.
Jennifer L Cohen , Terrence B Crowley , Daniel E McGinn , Carey McDougall
American Journal of Medical Genetics Part A 176 ( 10) 2203 -2214
7
2018