Daryl A. Scott
ScholarGPS® ID: 43998519531451
Affiliation History
Field
Life Sciences
Discipline
Physiology
Top Specialties
Medical Genetics | Birth Defect | Diaphragmatic Hernia | Congenital Diaphragmatic Hernia | Chromosome | Human Genetics | Molecular Genetics | Hearing Loss | Mutation | Copy-number Variation | Intellectual Disability | Disability
Metrics Summary
Publication Count
117
Predicted Citations
7,150
Predicted h-index
46
Ranking
Publications and Citation History
Publications based on Top Specialties
Types of Publication
- Publications
- Books
- Patents
- NIH/NSF
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High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma (journal article) Investigative Opthalmology & Visual Science, volume 65, issue 3, pages 25- (2024). |
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia (journal article) Journal of Pediatric Genetics, volume 13, issue 01, pages 029-034 (2024). |
American Journal of Medical Genetics Part A, volume 191, issue 9, pages 2433-2439 (2023). |
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes (journal article) Nature Communications, volume 14, issue 1 (2023). |
SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2 (journal article) Human Molecular Genetics, volume 32, issue 13, pages 2152-2161 (2023). |
Genetics of Diaphragmatic Hernia (book chapter) In Encyclopedia of Life Sciences Wiley (2023) |
Clinical Immunology, volume 250 (2023). |
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations (journal article) European Journal of Human Genetics, volume 31, issue 3, pages 296-303 (2023). |
American Journal of Medical Genetics Part A, volume 191, issue 3, pages 805-812 (2023). |
Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia (journal article) American Journal of Medical Genetics Part A, volume 188, issue 9, pages 2718-2723 (2022). |
Evidence-Based Genetic Testing for Individuals with Congenital Diaphragmatic Hernia (journal article) The Journal of Pediatrics, volume 248 (2022). |
A novel, de novo intronic variant in POGZ causes White–Sutton syndrome (journal article) American Journal of Medical Genetics Part A, volume 188, issue 7, pages 2198-2203 (2022). |
The frequency and efficacy of genetic testing in individuals with scimitar syndrome (journal article) Cardiology in the Young, volume 32, issue 4, pages 550-557 (2022). |
Birth defect co-occurrence patterns in the Texas Birth Defects Registry (journal article) Pediatric Research, volume 91, issue 5, pages 1278-1285 (2022). |
The Cleft Palate-Craniofacial Journal, volume 59, issue 4, pages 417-426 (2022). |
eP132: Congenital diaphragmatic hernia as a feature of Coffin Siris syndrome type 2 (journal article) Genetics in Medicine, volume 24, issue 3, pages S82- (2022). |
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH (journal article) Journal of Medical Genetics, volume 59, issue 3, pages 270-278 (2022). |
Underlying genetic etiologies of congenital diaphragmatic hernia (journal article) Prenatal Diagnosis, volume 42, issue 3, pages 373-386 (2022). |
RERE deficiency causes retinal and optic nerve atrophy through degeneration of retinal cells (journal article) Developmental Dynamics, volume 250, issue 10, pages 1398-1409 (2021). |
A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia (journal article) Ophthalmic Epidemiology, volume 28, issue 5, pages 428-435 (2021). |