引用次数
引用: 34,180
H-指数: 97
I10-指数 : 327
出版物: 653
Site‐specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction
Elaine H. Zackai , Beverly S. Emanuel , John M. Optiz
American Journal of Medical Genetics 7 ( 4) 507 -521
142
1980
Recurrence rate for de novo 21q21q translocation Down syndrome: a study of 112 families.
Charlotte Steinberg , Elaine H. Zackai , Deborah L. Eunpu , Michael T. Mennuti
American Journal of Medical Genetics 17 ( 2) 523 -530
17
1984
Lack of Correlation between Impaired T Cell Production, Immunodeficiency, and Other Phenotypic Features in Chromosome 22q11.2 Deletion Syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome)
Kathleen E. Sullivan , Abbas F. Jawad , Peter Randall , Deborah A. Driscoll
Clinical Immunology and Immunopathology 86 ( 2) 141 -146
97
1998
Human central nervous system primitive neuroectodermal tumor expressing nerve growth factor receptors: CHP707m.
David L. Baker , Usha Rani Reddy , Samuel Pleasure , Mattie Hardy
Annals of Neurology 28 ( 2) 136 -145
19
1990
Chromosomal Localization of Human Collagen Genes
Jeanne C. Myers , Beverly S. Emanuel
Collagen and Related Research 7 ( 2) 149 -159
18
1987
From microscopes to microarrays: dissecting recurrent chromosomal rearrangements
Beverly S. Emanuel , Sulagna C. Saitta
Nature Reviews Genetics 8 ( 11) 869 -883
83
2007
Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization.
Suzanne L. Reeser , Alan E. Donnenfeld , Robert C. Miller , Beatrice S. Sellinger
Prenatal Diagnosis 14 ( 11) 1029 -1034
4
1994
Mapping of the human lambda immunoglobulin variable gene subgroup 1
Heather E. McDermid , Beverly S. Emanuel
Immunogenetics 40 ( 3) 177 -183
1
1994
Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR).
Steven Pastor , Oanh Tran , Andrea Jin , Danielle Carrado
Scientific Reports 10 ( 1) 12235 -12235
5
2020
Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome
Elizabeth Goldmuntz , Deborah A. Driscoll , Beverly S. Emanuel , Donna McDonald-McGinn
Birth Defects Research Part A-clinical and Molecular Teratology 85 ( 2) 125 -129
21
2009
Prenatal diagnosis of mosaicism 46, XX/46, XX, −21, +t(21q21q)
Wenda S. Long , Michael T. Mennuti , Beverly S. Emanuel , Elaine H. Zackai
Prenatal Diagnosis 4 ( 1) 73 -77
5
1984
A unique case of der(11)t(11;22),-22 arising from 3:1 segregation of a maternal t(11;22) in a family with co-segregation of the translocation and breast cancer.
Vaidehi Jobanputra , Wendy K. Chung , April M. Hacker , Beverly S. Emanuel
Prenatal Diagnosis 25 ( 8) 683 -686
10
2005
Regional Brain Abnormalities in 22q11.2 Deletion Syndrome: Association With Cognitive Abilities and Behavioral Symptoms
Carrie E. Bearden , Theo G. M. van Erp , John R. Monterosso , Tony J. Simon
Neurocase 10 ( 3) 198 -206
33
2004
Olfactory deficits and psychosis-spectrum symptoms in 22q11.2 deletion syndrome.
Sunny X. Tang , Paul J. Moberg , James J. Yi , Andrew S. Wiemken
Schizophrenia Research 202 113 -119
4
2018
Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome
Maria Niarchou , Samuel J.R.A. Chawner , Ania Fiksinski , Jacob A.S. Vorstman
Schizophrenia Research 204 320 -325
6
2019
Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males
Hiroki Kurahashi , Beverly S. Emanuel
Nature Genetics 29 ( 2) 139 -140
68
2001
Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.
Naomi Galili , Richard J. Davis , William J. Fredericks , Sunil Mukhopadhyay
Nature Genetics 5 ( 3) 230 -235
736
1993
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion
Marsha Gerdes , Cynthia Solot , Paul P. Wang , Edward Moss
American Journal of Medical Genetics 85 ( 2) 127 -133
314
1999
Comparative sequence analysis of 634 kb of the mouse chromosome 16 region of conserved synteny with the human velocardiofacial syndrome region on chromosome 22q11.2.
James Lund , Feng Chen , Axin Hua , Bruce Roe
Genomics 63 ( 3) 374 -383
47
2000
The association of the DiGeorge anomalad with partial monosomy of chromosome 22
Richard I. Kelley , Elaine H. Zackai , Beverly S. Emanuel , Mildred Kistenmacher
The Journal of Pediatrics 101 ( 2) 197 -200
164
1982