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David D. Weaver - Publications

Affiliations: 
Medical & Molecular Genetics Indiana University School of Medicine, Indianapolis, IN, United States 
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9 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Liaqat K, Treat K, Mantcheva L, Nasir A, Weaver DD, Conboy E, Vetrini F. 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. PMID 38135440 DOI: 10.1002/ajmg.a.63499  0.319
2020 Younger G, Vetrini F, Weaver DD, Lynnes TC, Treat K, Pratt VM, Torres-Martinez W. 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. PMID 32869452 DOI: 10.1002/ajmg.a.61808  0.34
2020 Stinson JL, Brault JA, Delk PR, Graham BH, Karmazyn B, Hall B, Weaver DD. 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. PMID 32426895 DOI: 10.1002/ajmg.a.61619  0.332
2018 Feldman HR, Dlouhy SR, Lah MD, Payne KK, Weaver DD. The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. American Journal of Medical Genetics. Part A. PMID 30549396 DOI: 10.1002/Ajmg.A.60698  0.311
2014 Roberts J, Torres-Martinez W, Farrow E, Stevens A, Delk P, White KE, Weaver DD. 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. PMID 24311538 DOI: 10.1002/ajmg.a.36273  0.393
2012 Davis ME, Stevens AK, Weaver DD. A case of multiple congenital anomalies including unusual ear nodules and finger contractures: a new genetic syndrome? Clinical Dysmorphology. 21: 218-21. PMID 22932444 DOI: 10.1097/MCD.0b013e3283590ac5  0.308
2012 Zitano L, Loder RT, Cohen MD, Weaver DD. Severe lateral tibial bowing with short stature in two siblings--a provisionally novel syndrome. American Journal of Medical Genetics. Part A. 158: 2309-16. PMID 22927185 DOI: 10.1002/ajmg.a.35514  0.365
2009 Griffith CB, Vance GH, Weaver DD. Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review. American Journal of Medical Genetics. Part A. 149: 1346-58. PMID 19449431 DOI: 10.1002/ajmg.a.32883  0.305
2005 Cushman LJ, Torres-Martinez W, Weaver DD. Johnson-McMillin syndrome: report of a new case with novel features. Birth Defects Research. Part a, Clinical and Molecular Teratology. 73: 638-41. PMID 16116593 DOI: 10.1002/bdra.20178  0.368
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