John A. Crolla

Overview

Best Publications

• Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

  David T. Miller;Margaret P. Adam;Margaret P. Adam;Swaroop Aradhya;Leslie G. Biesecker

  3018
  Citations

• Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

  Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  852
  Citations

• An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

  Erin B. Kaminsky;Vineith Kaul;Justin Paschall;Deanna M. Church

  486
  Citations

• Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

  Daniel Moreno-De-Luca;Jennifer Mulle;Erin Baldwin Kaminsky;Stephan J. Sanders

  358
  Citations

• Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

  B W M van Bon;H C Mefford;B Menten;D A Koolen

  314
  Citations

• The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

  S M Gribble;E Prigmore;D C Burford;K M Porter

  252
  Citations

• An imprinted gene(s) for diabetes

  I.K. Temple;R.S. James;J.A. Crolla;F.L. Sitch

  234
  Citations

• Breakpoint Mapping and Array CGH in Translocations: Comparison of a Phenotypically Normal and an Abnormal Cohort

  Julia Baptista;Catherine Mercer;Elena Prigmore;Susan M. Gribble

  226
  Citations

• FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature.

  John A. Crolla

  217
  Citations

• Genetic abnormalities detected in ependymomas by comparative genomic hybridisation

  M Carter;J Nicholson;F Ross;J Crolla

  209
  Citations

• The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.

  Jonathan L. A. Callaway;Lisa G. Shaffer;Lyn S. Chitty;Lyn S. Chitty;Jill A. Rosenfeld

  203
  Citations

• SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

  Daniel Kelberman;Sandra C. P. de Castro;Shuwen Huang;John A. Crolla

  200
  Citations

• Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia.

  John A. Crolla;Veronica van Heyningen

  199
  Citations

• Supernumerary marker 15 chromosomes : a clinical, molecular and FISH approach to diagnosis and prognosis

  John A. Crolla;John F. Harvey;Fiona L. Sitch;Nick R. Dennis

  177
  Citations

• Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment.

  Allan Caine;A Edna Maltby;C Anthony Parkin;Jonathan J Waters

  161
  Citations

• Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

  David O Robinson;Rachel J Howarth;Kathleen A Williamson;Veronica van Heyningen

  154
  Citations

• A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

  Sara Benito-Sanz;N. Simon Thomas;Céline Huber;Darya Gorbenko del Blanco

  153
  Citations

• A cytogenetic and molecular reappraisal of a series of patients with Turner's syndrome.

  P. A. Jacobs;P. R. Betts;A. E. Cockwell;J. A. Crolla

  150
  Citations

• Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays

  H Fiegler;S M Gribble;D C Burford;P Carr

  144
  Citations

• Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

  B. Huang;J. A. Crolla;S. L. Christian;M. E. Wolf-Ledbetter

  144
  Citations