David Weaver

  • 4294 Citations
  • 38 h-Index
1968 …2018
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Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Ear Medicine & Life Sciences
Microcephaly Medicine & Life Sciences
Mutation Medicine & Life Sciences
Pregnancy Medicine & Life Sciences
Mothers Medicine & Life Sciences
Prenatal Diagnosis Medicine & Life Sciences

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Publications 1968 2018

  • 4294 Citations
  • 38 h-Index
  • 157 Article
  • 1 Letter
Chromosomes, Human, Pair 5
Genetic Counseling

The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene

Feldman, H. R., Dlouhy, S., Lah, M. D., Payne, K. K. & Weaver, D., Jan 1 2018, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Developmental Disabilities
Intellectual Disability

Sinus pericranii in achondroplasia: A case report and review of the literature

Scott, A. A., Hodge, K. D., Torres-Martinez, W., Dlouhy, S., Smith, J. & Weaver, D., 2017, In : Clinical Dysmorphology. 26, 4, p. 252-255 4 p.

Research output: Contribution to journalArticle

Sinus Pericranii
Vascular Malformations
Intracranial Pressure
Craniocerebral Trauma
5 Citations (Scopus)

A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation

Lah, M., Niranjan, T., Srikanth, S., Holloway, L., Schwartz, C. E., Wang, T. & Weaver, D., Apr 1 2016, In : American Journal of Medical Genetics, Part A. 170, 4, p. 881-890 10 p.

Research output: Contribution to journalArticle

17 Citations (Scopus)

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

Cohen, A. S. A., Yap, D. B., Lewis, M. E. S., Chijiwa, C., Ramos-Arroyo, M. A., Tkachenko, N., Milano, V., Fradin, M., Mckinnon, M. L., Townsend, K. N., Xu, J., Van Allen, M. I., Ross, C. J. D., Dobyns, W. B., Weaver, D. & Gibson, W. T., Mar 1 2016, In : Human Mutation. 37, 3, p. 301-307 7 p.

Research output: Contribution to journalArticle

Polycomb Repressive Complex 2
Weaver syndrome
In Vitro Techniques