T. Blaine Crowley
ScholarGPS® ID: 11604600991122
Affiliation History
Field
Life Sciences
Discipline
Genetics
Top Specialties
Chromosomal Deletion Syndrome | Medical Genetics | Chromosome | Birth Defect | Congenital Heart Defect | Molecular Genetics
Metrics Summary
Publication Count
60
Predicted Citations
820
Predicted h-index
17
Ranking
Publications and Citation History
Publications based on Top Specialties
Types of Publication
- Publications
- Books
- Patents
- NIH/NSF
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A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery (journal article) Platelets, volume 35, issue 1 (2024). |
Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome (journal article) Journal of Intellectual Disability Research, volume 68, issue 4, pages 369-376 (2024). |
P217: Abnormalities of TBX1 result in broad overlapping features of 22q11.2 deletion syndrome (journal article) Genetics in Medicine Open, volume 2 (2024). |
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA (journal article) American Journal of Medical Genetics Part A, volume 194, issue 1, pages 64-69 (2024). |
Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome (journal article) Psychological Medicine, volume 53, issue 14, pages 6763-6772 (2023). |
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications (journal article) Journal of Clinical Immunology, volume 43, issue 4, pages 794-807 (2023). |
Genes, volume 14, issue 3, pages 679- (2023). |
Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research (journal article) Genes, volume 14, issue 1, pages 169- (2023). |
P249: Phenotypic findings associated with nested 22q11.2 deletions* (journal article) Genetics in Medicine Open, volume 1, issue 1, pages 100277- (2023). |
P248: Is 22q11.2 deletion syndrome truly less common in Black patients? (journal article) Genetics in Medicine Open, volume 1, issue 1, pages 100276- (2023). |
Biological Psychiatry: Cognitive Neuroscience and Neuroimaging, volume 8, issue 1, pages 79-90 (2023). |
Genes, volume 14, issue 1, pages 160- (2023). |
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression (journal article) Clinical Genetics, volume 103, issue 1, pages 109-113 (2023). |
Chromosome 22q11 copy number variants and single ventricle CHD (journal article) Cardiology in the Young, volume 33, issue 1, pages 101-105 (2023). |
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study (journal article) Genes, volume 14, issue 1, pages 62- (2022). |
The experience of one pediatric geneticist with telemedicine‐based clinical diagnosis (journal article) American Journal of Medical Genetics Part A, volume 188, issue 12, pages 3416-3422 (2022). |
Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome (journal article) Genes, volume 13, issue 10, pages 1800- (2022). |
A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome (journal article) Genes, volume 13, issue 9, pages 1668- (2022). |
Pediatric Surgery International, volume 38, issue 6, pages 899-905 (2022). |
22q11.2 Deletion and Duplication Syndromes and COVID-19 (journal article) Journal of Clinical Immunology, volume 42, issue 4, pages 746-748 (2022). |