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
Chromosomes
Phenotype
Skin

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

Hypertrichosis
Genes
Developmental Disabilities
Intellectual Disability
Kidney

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
Achondroplasia
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

Filamins
Keloid
Contracture
Joints
Exome
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
Mutation
Megalencephaly
Weaver syndrome
In Vitro Techniques