David D. Weaver
Biochemistry, Genetics and Molecular Biology · Indiana University
Publications
149
Citations
6,224
Est. group size
—
Recurring co-author estimate
Active years
59
Publishing since 1968
David D. Weaver studies human genetics and dysmorphology, focusing on identifying the genetic causes of rare inherited syndromes and understanding how specific gene mutations lead to physical and neurodevelopmental features. The work combines clinical observation of patients with molecular investigation of candidate genes to define and characterize genetic disorders. Much of the research examines conditions involving developmental delays, overgrowth, skeletal differences, and other congenital abnormalities.
Publication activity peaked around 2019-2020 and has slowed in recent years, averaging about 1.4 papers per year over the last five years.
Generated by claude-opus-4-8 from public bibliographic data · Jul 11, 2026
- CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders
European Journal of Human Genetics · 2026
- Personal journeys to and in human genetics and dysmorphology
UNC Libraries · 2025
- Personal journeys to and in human genetics and dysmorphology
American Journal of Medical Genetics Part A · 2024
- Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Molecular Psychiatry · 2022
- Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Genetics in Medicine · 2022
- A dyadic approach to the delineation of diagnostic entities in clinical genomics
The American Journal of Human Genetics · 2021
- Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15
Frontiers in Molecular Neuroscience · 2021
- Response to Hamosh et al.
The American Journal of Human Genetics · 2021
- Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression
Journal of Pediatric Genetics · 2020
- Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Human Mutation · 2019
- PRC2‐complex related dysfunction in overgrowth syndromes: A review of <i>EZH2</i>, <i>EED</i>, and <i>SUZ12</i> and their syndromic phenotypes
American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2019
- Weaver Syndrome and EZH2-Related Overgrowth Syndromes
Oxford University Press eBooks · 2019
- The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the <i>KMT2A</i> gene
American Journal of Medical Genetics Part A · 2018
- Sinus pericranii in achondroplasia: a case report and review of the literature
Clinical Dysmorphology · 2017
- 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
PMC · 2016
- American Journal of Medical Genetics Part A×7
- The American Journal of Human Genetics×2
- Clinical Dysmorphology×2
- Human Mutation×1
- American Journal of Medical Genetics Part C Seminars in Medical Genetics×1
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 11, 2026.
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