Beverly S. Emanuel

Overview

Best Publications

• 22q11.2 deletion syndrome

  Donna M. McDonald-McGinn;Kathleen E. Sullivan;Bruno Marino;Nicole Philip

  1968
  Citations

• The DNA sequence of human chromosome 22

  I. Dunham;N. Shimizu;B. A. Roe;S. Chissoe

  1504
  Citations

• Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma.

  N Galili;R J Davis;W J Fredericks;S Mukhopadhyay

  1065
  Citations

• Localization of gene for human p53 tumour antigen to band 17p13

  M. Isobe;B. S. Emanuel;D. Givol;M. Oren

  728
  Citations

• Frequency of 22q11 deletions in patients with conotruncal defects

  Elizabeth Goldmuntz;Bernard J Clark;Bernard J Clark;Laura E Mitchell;Laura E Mitchell;Abbas F Jawad;Abbas F Jawad

  655
  Citations

• Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

  Tamim H. Shaikh;Hiroki Kurahashi;Sulagna C. Saitta;Anna Mizrahy O’Hare

  647
  Citations

• Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma.

  Frederic G. Barr;Naomi Galili;John Holick;John Holick;Jaclyn A. Biegel;Jaclyn A. Biegel

  639
  Citations

• Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

  D A Driscoll;J Salvin;B Sellinger;M L Budarf

  568
  Citations

• The Philadelphia story: the 22q11.2 deletion: report on 250 patients

  McDonald-McGinn Dm;Kirschner R;Goldmuntz E;Sullivan K

  520
  Citations

• A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

  D A Driscoll;M L Budarf;B S Emanuel

  507
  Citations

• Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.

  Deborah A. Driscoll;Nancy B. Spinner;Nancy B. Spinner;Marcia L. Budarf;Marcia L. Budarf;Donna M. McDonald-McGinn;Donna M. McDonald-McGinn

  475
  Citations

• Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1----q11.2.

  M.H. Grossman;B.S. Emanuel;M.L. Budarf

  405
  Citations

• Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

  Donna M Mcdonald-Mcginn;Melissa K Tonnesen;Ayala Laufer-Cahana;Brenda Finucane

  362
  Citations

• Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern

  Edward M. Moss;Mark L. Batshaw;Cynthia B. Solot;Marsha Gerdes

  359
  Citations

• Segmental duplications: an 'expanding' role in genomic instability and disease.

  Beverly S. Emanuel;Tamim H. Shaikh

  352
  Citations

• Growth factor requirements of childhood acute leukemia: establishment of GM-CSF-dependent cell lines

  B Lange;M Valtieri;D Santoli;D Caracciolo

  341
  Citations

• VEGF: a modifier of the del22q11 (DiGeorge) syndrome?

  Ingeborg Stalmans;Diether Lambrechts;Frederik De Smet;Sandra Jansen

  332
  Citations

• A 14;18 and an 8;14 chromosome translocation in a cell line derived from an acute B-cell leukemia

  Luigi Pegoraro;Antonio Palumbo;Jan Erikson;Michele Falda

  318
  Citations

• Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion

  Marsha Gerdes;Cynthia Solot;Paul P. Wang;Paul P. Wang;Edward Moss

  318
  Citations

• Chromosome abnormalities in pediatric brain tumors.

  Constance A. Griffin;Anita L. Hawkins;Roger J. Packer;Lucy B. Rorke

  314
  Citations