Donna M. McDonald-McGinn

Overview

Best Publications

• 22q11.2 deletion syndrome

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

  1968
  Citations

• Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

  Shinji Kondo;Brian C. Schutte;Rebecca J. Richardson;Bryan C. Bjork

  1051
  Citations

• Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.

  Maude Schneider;Martin Debbané;Anne S. Bassett;Eva W.C. Chow

  814
  Citations

• A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

  Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci

  655
  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

• Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

  Anne S Bassett;Donna M McDonald-McGinn;Koenraad Devriendt;Maria Cristina Digilio

  652
  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

• 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

• Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

  Donna M. McDonald-McGinn;Kathleen E. Sullivan

  550
  Citations

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

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

  520
  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

• A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

  M Muenke;K W Gripp;D M McDonald-McGinn;K Gaudenz

  448
  Citations

• Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.

  Paweł Stankiewicz;Partha Sen;Samarth S. Bhatt;Mekayla Storer

  428
  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

• Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

  Abbas F. Jawad;Donna M. McDonald-McGinn;Elaine Zackai;Kathleen E. Sullivan

  351
  Citations

• De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.

  Michael Oldridge;Elaine H. Zackai;Donna M. McDonald-McGinn;Sachiko Iseki

  323
  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

• Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching

  Doff B McElhinney;Bernard J Clark;Paul M Weinberg;Maura L Kenton

  313
  Citations

• Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

  E Goldmuntz;D Driscoll;M L Budarf;E H Zackai

  308
  Citations