引用次数
引用: 34,180
H-指数: 97
I10-指数 : 327
出版物: 653
Compound lateral asymmetry in human chromosome 6:BrdU-dye studies of 6q12-->6q14.
Beverly S. Emanuel
American Journal of Human Genetics 30 ( 2) 153 -159
22
1978
Association of Mitochondrial Biogenesis With Variable Penetrance of Schizophrenia.
Raquel E. Gur , Tyler M. Moore , Douglas C. Wallace , Douglas C. Wallace
JAMA Psychiatry
2021
Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status.
Hongbo M. Xie , Deanne M. Taylor , Zhe Zhang , Donna M. McDonald‐McGinn
Birth defects research 111 ( 13) 888 -905
2019
Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.
Carla Chieffo , Nancy Garvey , Weilong Gong , Bruce Roe
Genomics 43 ( 3) 267 -277
148
1997
The topographic organization of repetitive DNA in the human nucleolus.
Frederick S. Kaplan , John Murray , James E. Sylvester , Iris L. Gonzalez
Genomics 15 ( 1) 123 -132
49
1993
A Panel of Sequence Tagged Sites for Chromosome Band 11q23
Alan Tunnacliffe , Helen Perry , Paolo Radice , Marcia L. Budarf
Genomics 17 ( 3) 744 -747
5
1993
Regional Localization of over 300 Loci on Human Chromosome 22 Using a Somatic Cell Hybrid Mapping Panel
Marcia L. Budarf , Barbara Eckman , Dominique Michaud , Terrence McDonald
Genomics 35 ( 2) 275 -288
24
1996
A Microsatellite-Based Multipoint Index Map of Human Chromosome 22
Kenneth H. Buetow , David Duggan , Bosheng Yang , Susan Ludwigsen
Genomics 18 ( 2) 329 -339
18
1993
Isolation and Regional Mapping of 110 Chromosome 22 STSs
Thomas J. Hudson , Angela M.E. Colbert , Mary Pat Reeve , Jane S. Bae
Genomics 24 ( 3) 588 -592
6
1994
Expression of two G-6-PD genes in an XX phenotypic male.
Martin H. Steinberg , Frances Gill , Beverly S. Emanuel
British Journal of Haematology 64 ( 1) 107 -110
1986
Palindrome-mediated chromosomal translocations in humans.
Hiroki Kurahashi , Hidehito Inagaki , Tamae Ohye , Hiroshi Kogo
DNA Repair 5 ( 9) 1136 -1145
79
2006
Impact of psychiatric comorbidity and cognitive deficit on function in 22q11.2 deletion syndrome.
James J. Yi , Monica E. Calkins , Sunny X. Tang , Christian G. Kohler
The Journal of Clinical Psychiatry 76 ( 10) 1262 -1270
17
2015
Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.
Mercedes Bloch , Anissa Leonard , Andreas A. Diplas , Xavier Pepermans
American Journal of Medical Genetics Part A 164 ( 7) 1789 -1794
4
2014
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Yingjie Zhao , Tingwei Guo , Ania Fiksinski , Elemi Breetvelt
American Journal of Medical Genetics Part A 176 ( 10) 2172 -2181
10
2018
The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats.
Hiroki Kurahashi , Tamim Shaikh , Masayuki Takata , Tatsushi Toda
American Journal of Human Genetics 72 ( 3) 733 -738
133
2003
Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse
Maja Bućan , Biljana Gatalica , Patrick Nolan , Alice Chung
Human Molecular Genetics 2 ( 8) 1245 -1252
20
1993
Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis
Jouni Vesa , Elina Hellsten , Barry L. Bamoski , Beverly S. Emanuel
Human Molecular Genetics 3 ( 2) 341 -346
10
1994
Mammalian TIMELESS and Tipin are Evolutionarily Conserved Replication Fork-associated Factors
Anthony L. Gotter , Christine Suppa , Beverly S. Emanuel
Journal of Molecular Biology 366 ( 1) 36 -52
111
2007
Monosomy 22 in rhabdoid or atypical tumors of the brain.
Jaclyn A. Biegel , Lucy B. Rorke , Roger J. Packer , Beverly S. Emanuel
Journal of Neurosurgery 73 ( 5) 710 -714
173
1990
22q11.2 deletion syndrome
Donna M. McDonald-McGinn , Kathleen E. Sullivan , Bruno Marino , Nicole Philip
Nature Reviews Disease Primers 1 ( 1) 15071
1,476
2015