Marilyn C Jones

7PUBLICATIONS
24CO-AUTHORS
Developmental genetics (incl. sex determination)Medical infection agents (incl. prions)Cardiology (incl. cardiovascular diseases)NeonatologyMedical biotechnology diagnostics (incl. biosensors)
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Publications (7)

|Jun 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Maninder Kaur, Justin Blair, Batsal Devkota

|Jan 31, 2023
Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.

Shaden H Yassin, Riley Henderson, Jerica Lenberg

|Jul 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Amy Hardcastle, Aliska M Berry, Ian M Campbell

|Oct 08, 2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis.

Erica Sanford, Marilyn C Jones, Matthew Brigger

|Feb 23, 2019
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.

Alicia Scocchia, Kristen M Wigby, Diane Masser-Frye

|Dec 15, 2018
A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome.

Hannah Wangberg, Kristen Wigby, Marilyn C Jones

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Frequent Collaborators

1 joint publications

Glenn Oliveira

1 joint publications

Tierney Phillips

1 joint publications

Ali Torkamani

1 joint publications

Hannah Wangberg