A de novo <i>WBP11</i> Pathogenic Variant in a Fetus With Cystic Brain Malformation and Growth Restriction

We report the first prenatal diagnosis of a de novo WBP11 variant in a fetus with growth restriction and structural brain anomalies. The case highlights the challenges of counselling with a new and evolving gene-disease association.

Authors

Stacy Goergen (ORCID: https://orcid.org/0000-0001-9668-6809)
Alison M. Fung
Lilian Downie (ORCID: https://orcid.org/0000-0003-3914-5592)
L. Hennington
Gulvir Gill (ORCID: https://orcid.org/0000-0001-6898-9634)
Simon Meagher
Kelly O'Donovan (ORCID: https://orcid.org/0000-0002-5171-616X)
Dina Rubinfeld

Institutions

Mercy Hospital for Women (AU)
Victorian Clinical Genetics Services (AU)
Monash Health (AU)

Publication Details

Journal: Prenatal Diagnosis
Published: 2025-11-03
DOI: https://doi.org/10.1002/pd.70015
Primary Topic: Congenital gastrointestinal and neural anomalies
Type: article
Field-Weighted Citation Impact: 0.00

Controls

|||

ALL TIME

JAN

FEB

MAR

APR

MAY

JUN

JUL

AUG

SEP

OCT

article

A de novo WBP11 Pathogenic Variant in a Fetus With Cystic Brain Malformation and Growth Restriction

Stacy Goergen, Alison M. Fung, Lilian Downie, L. Hennington et al.

Nov 3, 2025

Prenatal Diagnosis

Congenital gastrointestinal and neural anomalies

article

A de novo WBP11 Pathogenic Variant in a Fetus With Cystic Brain Malformation and Growth Restriction

Stacy Goergen, Alison M. Fung, Lilian Downie, L. Hennington, Gulvir Gill, Simon Meagher, Kelly O'Donovan, Dina Rubinfeld

November 3, 2025article en

Abstract

We report the first prenatal diagnosis of a de novo WBP11 variant in a fetus with growth restriction and structural brain anomalies. The case highlights the challenges of counselling with a new and evolving gene-disease association.

Prenatal DiagnosisVol. 45(13)

Mercy Hospital for Women (AU), Victorian Clinical Genetics Services (AU), Monash Health (AU)

Openalex Percentile: Top 50%

Congenital gastrointestinal and neural anomalies

DOI Open Access PDF OpenAlex

AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.