Chaya N. Murali
ScholarGPS® ID: 48490430810488
Affiliation History
Field
Life Sciences
Discipline
Genetics
Top Specialties
Medical Genetics | Metabolism | Molecular Genetics
Metrics Summary
Publication Count
30
Predicted Citations
229
Predicted h-index
7
Ranking
Publications and Citation History
Publications based on Top Specialties
Types of Publication
- Publications
- Books
- Patents
- NIH/NSF
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Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis Imperfecta (journal article) Disability and Rehabilitation (2024). |
Manifestations of OXCT1 heterozygosity (journal article) Molecular Genetics and Metabolism, volume 141, issue 4, pages 108343- (2024). |
The Impact of Cognitive Behavioral Therapy on Sleep Problems in Autistic Children with Co-occurring Anxiety (journal article) Journal of Autism and Developmental Disorders (2024). |
P287: Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2 (journal article) Genetics in Medicine Open, volume 2 (2024). |
A familial deletion of 10p12.1 associated with thrombocytopenia (journal article) American Journal of Medical Genetics Part A, volume 194, issue 1, pages 77-81 (2024). |
Health-related quality of life in a systematically assessed cohort of children and adults with urea cycle disorders (journal article) Molecular Genetics and Metabolism, volume 140, issue 3, pages 107696- (2023). |
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy (journal article) Human Genetics and Genomics Advances, volume 4, issue 4, pages 100236- (2023). |
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease (journal article) Journal of the American Heart Association, volume 12, issue 18 (2023). |
A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta (journal article) American Journal of Medical Genetics Part A, volume 191, issue 9, pages 2267-2275 (2023). |
A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome (journal article) American Journal of Medical Genetics Part A, volume 191, issue 6, pages 1576-1580 (2023). |
Examining parents’ perceptions of their children’s autism and completion of genetic testing (journal article) International Journal of Developmental Disabilities (2023). |
Genetics in Medicine Open, volume 1, issue 1, pages 100814- (2023). |
P573: Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy (journal article) Genetics in Medicine Open, volume 1, issue 1, pages 100620- (2023). |
American Journal of Medical Genetics Part A, volume 191, issue 1, pages 160-172 (2023). |
Updates in Clinical Genetics (book chapter) In Update in Pediatrics Springer International Publishing (2023) |
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias (journal article) European Journal of Human Genetics, volume 30, issue 9, pages 1044-1050 (2022). |
Health‐related quality of life in adults with osteogenesis imperfecta (journal article) Clinical Genetics, volume 99, issue 6, pages 772-779 (2021). |
Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme (journal article) American Journal of Medical Genetics Part C: Seminars in Medical Genetics, volume 187, issue 2, pages 107-110 (2021). |
The stories behind the art—Malformations and Hindu mythology (journal article) American Journal of Medical Genetics Part C: Seminars in Medical Genetics, volume 187, issue 2, pages 261-264 (2021). |
Molecular Genetics and Metabolism, volume 132 (2021). |