David Weaver

  • 4360 Citations
  • 38 h-Index
1968 …2019
If you made any changes in Pure, your changes will be visible here soon.

Fingerprint Dive into the research topics where David Weaver is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 1 Similar Profiles
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

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Publications 1968 2019

  • 4360 Citations
  • 38 h-Index
  • 158 Article
  • 1 Letter

An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3

Castelluccio, V. J., Vetrini, F., Lynnes, T., Jones, J., Holloway, L., Belonis, A., Breman, A. M., Graham, B. H., Sapp, K., Wilson, T., Schwartz, C. E., Pratt, V. M. & Weaver, D. D., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Siblings
Exons
Intellectual Disability
Complementary DNA
Exome
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
6 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