D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Medicine D-index 87 Citations 26,076 338 World Ranking 8809 National Ranking 4690

Overview

What is she best known for?

The fields of study she is best known for:

  • Mutation
  • Internal medicine
  • Gene

Donna M. McDonald-McGinn mostly deals with DiGeorge syndrome, Genetics, Pediatrics, Microdeletion syndrome and Pathology. Her DiGeorge syndrome study combines topics in areas such as Immunodeficiency, Chromosome, Immunopathology, Genetic counseling and Genetic testing. She interconnects Surgery, Etiology, Cohort and Developmental disorder in the investigation of issues within Pediatrics.

Her research integrates issues of Low copy repeats, Microarray, Mood disorders, Fluorescence in situ hybridization and Chromosome 22 in her study of Microdeletion syndrome. Her study in Pathology is interdisciplinary in nature, drawing from both Region of interest, Fractional anisotropy, Brain morphometry and Voxel. Her research investigates the connection between Phenotype and topics such as Polymorphism that intersect with issues in Pathogenesis, Chromosome regions and Karyotype.

Her most cited work include:

  • 22q11.2 deletion syndrome (1465 citations)
  • Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. (644 citations)
  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay (481 citations)

What are the main themes of her work throughout her whole career to date?

Her primary areas of study are Genetics, DiGeorge syndrome, Pediatrics, Deletion syndrome and Schizophrenia. Her study in Gene, Phenotype, Chromosome, Allele and Chromosome 22 is carried out as part of her Genetics studies. The DiGeorge syndrome study which covers Internal medicine that intersects with Cardiology.

Her Pediatrics study incorporates themes from Incidence, Scoliosis, Genetic counseling, Heart disease and Cohort. Donna M. McDonald-McGinn combines subjects such as Velopharyngeal dysfunction and Bioinformatics with her study of Deletion syndrome. Her research in Schizophrenia intersects with topics in Psychosis and Cognition, Neuroscience.

She most often published in these fields:

  • Genetics (34.37%)
  • DiGeorge syndrome (37.21%)
  • Pediatrics (27.91%)

What were the highlights of her more recent work (between 2018-2021)?

  • Deletion syndrome (27.91%)
  • Pediatrics (27.91%)
  • Cohort (9.30%)

In recent papers she was focusing on the following fields of study:

Her scientific interests lie mostly in Deletion syndrome, Pediatrics, Cohort, Genetics and Psychosis. Her work on 22q11 2ds is typically connected to In patient as part of general Deletion syndrome study, connecting several disciplines of science. Her Pediatrics study integrates concerns from other disciplines, such as Incidence, Proband, Scoliosis, Microdeletion syndrome and Etiology.

Her Cohort study also includes

  • Heart disease which is related to area like DiGeorge syndrome, 22q11.2 duplication syndrome, Bicuspid aortic valve, Intracardiac injection and Aortic arch,
  • Cardiology which intersects with area such as Longitudinal Course and Clinical risk factor. Genetics is often connected to Functional brain in her work. Her Psychosis research includes themes of Schizophrenia, Neuroimaging and Clinical psychology, Attention deficit hyperactivity disorder.

Between 2018 and 2021, her most popular works were:

  • Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size. (60 citations)
  • Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size. (60 citations)
  • Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study (29 citations)

In her most recent research, the most cited papers focused on:

  • Mutation
  • Gene
  • Internal medicine

Her primary areas of investigation include Deletion syndrome, Cohort, Psychosis, Schizophrenia and Copy-number variation. Her study explores the link between Deletion syndrome and topics such as Velopharyngeal dysfunction that cross with problems in Speech language disorders, Audiology and Cognition. Her Cohort research is multidisciplinary, incorporating perspectives in Genetic variation, Pediatrics and Abnormality.

Her biological study spans a wide range of topics, including Neuroimaging, Cingulate cortex and Pathology. Her studies deal with areas such as DiGeorge syndrome, Haploinsufficiency and Sequence as well as Copy-number variation. In her papers, she integrates diverse fields, such as Genetics and TBX1.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

22q11.2 deletion syndrome

Donna M. McDonald-McGinn;Kathleen E. Sullivan;Bruno Marino;Nicole Philip.
Nature Reviews Disease Primers (2015)

1672 Citations

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

Shinji Kondo;Brian C. Schutte;Rebecca J. Richardson;Bryan C. Bjork.
Nature Genetics (2002)

981 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.
Journal of the American College of Cardiology (1998)

618 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.
Nature Genetics (2010)

618 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.
Human Molecular Genetics (2000)

616 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.
American Journal of Psychiatry (2014)

591 Citations

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

Anne S Bassett;Donna M McDonald-McGinn;Koenraad Devriendt;Maria Cristina Digilio.
The Journal of Pediatrics (2011)

585 Citations

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

McDonald-McGinn Dm;Kirschner R;Goldmuntz E;Sullivan K.
Genetic Counseling (1999)

486 Citations

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

Donna M. McDonald-McGinn;Kathleen E. Sullivan.
Medicine (2011)

484 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.
American Journal of Medical Genetics (1992)

467 Citations

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