David D Weaver

8PUBLICATIONS
23CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Medical biotechnology diagnostics (incl. biosensors)Linguistic anthropologyAdolescent healthEvolutionary biology not elsewhere classified
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Journal

Publications (8)

|Feb 08, 2024
Personal journeys to and in human genetics and dysmorphology.

Charles E Schwartz, Arthur S Aylsworth, Judith Allanson

|Dec 22, 2023
A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome.

Khurram Liaqat, Kayla Treat, Lili Mantcheva

|Sep 10, 2021
Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression.

Jennifer Brault, Laurence Walsh, Gail H Vance

|Sep 16, 2020
An Adolescent with a Rare <i>De Novo</i> Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination.

Leia A Peterman, Gail H Vance, Erin E Conboy

|Sep 02, 2020
EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.

Georgianne Younger, Francesco Vetrini, David D Weaver

|May 20, 2020
An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.

Jennifer L Stinson, Jennifer A Brault, Paula R Delk

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Frequent Collaborators

1 joint publications

Hailey R Feldman

1 joint publications

Valerie J Castelluccio

1 joint publications

Jennifer L Stinson

1 joint publications

Georgianne Younger