Bronwyn D. Kerr
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 58 publications
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 31, 2022
A review of telephone consultations for head and neck cancer follow up: a patient satisfaction survey.
Journal: The Journal of laryngology and otology
Published: July 23, 2021
Normal Mid-Gestation Fetal Ultrasonography Cannot Reliably Exclude Severe Perinatal Hypophosphatasia.
Journal: Hormone research in paediatrics
Published: May 08, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Journal: American journal of human genetics
Published: February 08, 2021
High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.
Journal: Cancer genetics
Published: December 21, 2020
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Journal: American journal of human genetics
Published: December 07, 2020
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
Journal: Journal of medical genetics
Published: June 29, 2020
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.
Journal: European journal of medical genetics
Published: April 22, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Journal: American journal of human genetics
Published: December 09, 2019
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.
Journal: Orphanet journal of rare diseases
Published: November 11, 2019
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Journal: American journal of medical genetics. Part A
Published: March 31, 2019
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
Journal: American journal of human genetics
Published: March 09, 2019
Last Updated: 09/26/2026