David D. Weaver
Affiliations: | Medical & Molecular Genetics | Indiana University School of Medicine, Indianapolis, IN, United States |
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| Liaqat K, Treat K, Mantcheva L, et al. (2023) A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome. American Journal of Medical Genetics. Part A |
| Younger G, Vetrini F, Weaver DD, et al. (2020) EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction. American Journal of Medical Genetics. Part A. 182: 2501-2507 |
| Stinson JL, Brault JA, Delk PR, et al. (2020) An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology. American Journal of Medical Genetics. Part A |
| Feldman HR, Dlouhy SR, Lah MD, et al. (2018) The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. American Journal of Medical Genetics. Part A |
| Roberts J, Torres-Martinez W, Farrow E, et al. (2014) A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome? American Journal of Medical Genetics. Part A. 164: 287-90 |
| Davis ME, Stevens AK, Weaver DD. (2012) A case of multiple congenital anomalies including unusual ear nodules and finger contractures: a new genetic syndrome? Clinical Dysmorphology. 21: 218-21 |
| Zitano L, Loder RT, Cohen MD, et al. (2012) Severe lateral tibial bowing with short stature in two siblings--a provisionally novel syndrome. American Journal of Medical Genetics. Part A. 158: 2309-16 |
| Griffith CB, Vance GH, Weaver DD. (2009) Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review. American Journal of Medical Genetics. Part A. 149: 1346-58 |
| Cushman LJ, Torres-Martinez W, Weaver DD. (2005) Johnson-McMillin syndrome: report of a new case with novel features. Birth Defects Research. Part a, Clinical and Molecular Teratology. 73: 638-41 |