David A Sweetser

5PUBLICATIONS
45CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (5)

|Sep 24, 2026
Syndromic Hirschsprung Disease With a Novel De Novo Sense Exonic SVA Insertion of TCF20.

|Dec 11, 2023
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.

Xueyang Pan, Albert N Alvarez, Mengqi Ma

|May 11, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman

|Apr 13, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.

Sonja Neuser, Barbara Brechmann, Gali Heimer

|Jan 26, 2019
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.

Sandra Jansen, Ilse M van der Werf, A Micheil Innes

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Frequent Collaborators

1 joint publications

Sandra Jansen

1 joint publications

Ilse M van der Werf

1 joint publications

A Micheil Innes

1 joint publications

Anke van Dijck