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Anika Quillin

4PUBLICATIONS

43CO-AUTHORS

Infant and child healthDevelopmental genetics (incl. sex determination)Medical infection agents (incl. prions)Condensed matter characterisation technique development

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Publications (4)

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|Jan 20, 2026

Targeted questionnaires improve detection of early gastrointestinal symptoms in young children with Fabry disease.

Anika Quillin, Hannah Waddel, Gwen Gunn

|Sep 10, 2024

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

Jana Willim, Daniel Woike, Daniel Greene

|Nov 07, 2023

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.

Ronit Marom, Bo Zhang, Megan E Washington

|Feb 05, 2022

A dominant negative variant of <i>RAB5B</i> disrupts maturation of surfactant protein B and surfactant protein C.

Huiyan Huang, Jiehong Pan, David R Spielberg

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Frequent Collaborators

3 joint publications

Stephen C Pak

3 joint publications

Gary A Silverman

2 joint publications

Tim Schedl

2 joint publications

Lindsay C Burrage

2 joint publications

Jill A Rosenfeld

2 joint publications

Dustin Baldridge

1 joint publications

Jiehong Pan

1 joint publications

Hans-Jürgen Kreienkamp

1 joint publications

Daryl A Scott

1 joint publications

Tao Huang

Frequent Collaborators

3 joint publications

Stephen C Pak

3 joint publications

Gary A Silverman

2 joint publications

Tim Schedl

2 joint publications

Lindsay C Burrage

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