Kerry A. Miller
Oxford, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 13 publications
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.
Journal: HGG advances
Published: April 03, 2024
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
Journal: Journal of medical genetics
Published: July 24, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 22, 2022
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
Journal: Journal of medical genetics
Published: November 05, 2020
amplimap: a versatile tool to process and analyze targeted NGS data.
Journal: Bioinformatics (Oxford, England)
Published: February 27, 2020
amplimap: a versatile tool to process and analyze targeted NGS data.
Journal: Bioinformatics (Oxford, England)
Published: January 04, 2019
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Journal: American journal of human genetics
Published: February 14, 2018
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Journal: The Journal of experimental medicine
Published: October 26, 2016
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Journal: Journal of medical genetics
Published: August 24, 2016
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Journal: American journal of human genetics
Published: March 30, 2016
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Journal: American journal of human genetics
Published: February 08, 2016
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
Journal: American journal of human genetics
Published: May 26, 2015
Last Updated: 09/26/2026