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 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.
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
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.
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22q11.2 deletion syndrome
Donna M. McDonald-McGinn;Kathleen E. Sullivan;Bruno Marino;Nicole Philip.
Nature Reviews Disease Primers (2015)
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)
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)
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)
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)
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)
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)
The Philadelphia story: the 22q11.2 deletion: report on 250 patients
McDonald-McGinn Dm;Kirschner R;Goldmuntz E;Sullivan K.
Genetic Counseling (1999)
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Donna M. McDonald-McGinn;Kathleen E. Sullivan.
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)
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