Katherine A. Wood
Oxford, ENG OX39DS, United Kingdom
Last Updated: 09/26/2026
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Found 18 publications
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.
Journal: American journal of human genetics
Published: June 07, 2024
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Journal: Nature communications
Published: October 31, 2022
The impact of paternal age on new mutations and disease in the next generation.
Journal: Fertility and sterility
Published: August 16, 2022
Bi-allelic FRA10AC1 variants in a multisystem human syndrome.
Journal: Brain : a journal of neurology
Published: June 16, 2022
Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Journal: Clinical genetics
Published: September 06, 2021
Individualised decision making: interpretation of risk for extremely preterm infants-a survey of UK neonatal professionals.
Journal: Archives of disease in childhood. Fetal and neonatal edition
Published: April 01, 2021
Viability and thresholds for treatment of extremely preterm infants: survey of UK neonatal professionals.
Journal: Archives of disease in childhood. Fetal and neonatal edition
Published: December 07, 2020
The Role of the U5 snRNP in Genetic Disorders and Cancer.
Journal: Frontiers in genetics
Published: December 01, 2020
Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.
Journal: Kidney international reports
Published: April 27, 2020
Last Updated: 09/26/2026