引用次数
引用: 34,180
H-指数: 97
I10-指数 : 327
出版物: 653
Application of a subtraction hybridization technique involving photoactivatable biotin and organic extraction to solution hybridization analysis of genomic DNA.
Frederic G. Barr , Beverly S. Emanuel
Analytical Biochemistry 186 ( 2) 369 -373
23
1990
Myoclonus in a patient with a deletion of the ε‐sarcoglycan locus on chromosome 7q21
Ralph J. DeBerardinis , Danielle Conforto , Karen Russell , Jennifer Kaplan
American Journal of Medical Genetics 121 ( 1) 31 -36
33
2003
Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
Sulagna C. Saitta , Stacy E. Harris , Donna M. McDonald-McGinn , Beverly S. Emanuel
American Journal of Medical Genetics Part A 124 ( 3) 313 -317
22
2004
The 22q11.2 deletion in African‐American patients: An underdiagnosed population?
Donna M. McDonald-McGinn , Nancy Minugh-Purvis , Richard E. Kirschner , Abbas Jawad
American Journal of Medical Genetics Part A 134 ( 3) 242 -246
47
2005
XX male with sex reversal and a de novo 11;22 translocation.
Merryn V.E. Macville , Wim H. Loneus , Dominique Marcus-Soekarman , Erik H.L.P.G. Huys
American Journal of Medical Genetics Part A 140 ( 18) 1973 -1977
3
2006
Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome
Usha T. Sundaram , Donna M. McDonald-McGinn , Dale Huff , Beverly S. Emanuel
American Journal of Medical Genetics Part A 143 ( 17) 2016 -2018
33
2007
Deletion 22q11.2: report of a complex meiotic mechanism of origin.
Sintia Iole Nogueira , April M Hacker , Fernanda TS Bellucco , Leslie Domenici Kulikowski
American Journal of Medical Genetics Part A 143 ( 15) 1778 -1781
2007
Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome
J. Eric Schmitt , Simon Vandekar , James Yi , Monica E. Calkins
Biological Psychiatry 78 ( 2) 135 -143
50
2015
The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths
Sunny X. Tang , Tyler M. Moore , Monica E. Calkins , James J. Yi
Biological Psychiatry 82 ( 1) 17 -25
48
2017
Segmental duplications: an 'expanding' role in genomic instability and disease.
Beverly S. Emanuel , Tamim H. Shaikh
Nature Reviews Genetics 2 ( 10) 791 -800
246
2001
12 Approach to a sarcoma-associated chromosomal translocation: Breakpoint cloning in the absence of a candidate gene
Beverly S. Emanuel , Marcia Budart , Healther McDermid , Jaclyn Biegel
Cancer Genetics and Cytogenetics 59 ( 1) 104
1992
13 Molecular and cytogenetic analysis of malignant pediatric brain tumors
Jaclyn A. Biegel , Carol D. Burk , Annette H. Parmiter , Lucy B. Rorke
Cancer Genetics and Cytogenetics 59 ( 1) 104
1992
Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.
Hiroki Kurahashi , Hidehito Inagaki , Takema Kato , Eriko Hosoba
Human Molecular Genetics 18 ( 18) 3397 -3406
17
2009
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics.
Frederick R. Bieber , Athena M. Cherry , Beverly S. Emanuel , Uta Francke
Genetics in Medicine 19 ( 3) 294 -296
1
2017
Age has no effect on de novo constitutional t(11;22) translocation frequency in sperm
Takema Kato , Kouji Yamada , Hidehito Inagaki , Hiroshi Kogo
Fertility and Sterility 88 ( 5) 1446 -1448
18
2007
Ocular albinism in a male with del (6)(q13–q15): Candidate region for autosomal recessive ocular albinism?
Nancy C. Rose , Sheryl J. Menacker , Rhonda E. Schnur , Laird Jackson
American Journal of Medical Genetics 42 ( 5) 700 -705
22
1992
Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: implications for cytogenetic diagnosis of the fragile-X syndrome.
Feliciano J. Ramos , Beverly S. Emanuel , Nancy B. Spinner
American Journal of Medical Genetics 42 ( 6) 835 -838
4
1992
Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma.
Dwight Stambolian , Beatrice Sellinger , Dennis Derrington , Robert Sargent
American Journal of Medical Genetics 42 ( 6) 771 -776
5
1992
Velo‐cardio‐facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region
Robert E. Nickel , De-Ann M. Pillers , Mark Merkens , R. Ellen Magenis
American Journal of Medical Genetics 52 ( 4) 445 -449
46
1994
Classical Noonan syndrome is not associated with deletions of 22q11.
Nathaniel H. Robin , Beatrice Sellinger , Donna McDonald-McGinn , Elaine H. Zackai
American Journal of Medical Genetics 56 ( 1) 94 -96
15
1995