David Francis

Royal Children's Hospital — Australia

Biochemistry, Genetics and Molecular Biology · Life Sciences

27h-index2.5kcitations95works0.62yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(45), Genomic variations and chromosomal abnormalities(32), Autism Spectrum Disorder Research(28), Epigenetics and DNA Methylation(17), Prenatal Screening and Diagnostics(14)

Publications93 total

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia
The American Journal of Human Genetics·2025Open Access
Hexasomy of the 15q11q13 region: a detailed report and review of the literature
European Journal of Medical Genetics·2025· 1 citedOpen Access
Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants
Human Molecular Genetics·2025· 1 citedOpen Access
Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts
2025· 1 citedOpen Access
Investigation of perinatal chromosomal mosaicism – using evidence to inform best practice
Pathology·2025
De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype
Clinical Genetics·2023· 2 citedOpen Access
Author response for "De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype"
2023
Author response for "De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype"
2023
Defining the 3′Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome
International Journal of Molecular Sciences·2023· 2 citedOpen Access
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Nature Medicine·2023· 123 citedOpen Access
<i>WWOX</i>developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk
Epilepsia·2023· 22 citedOpen Access
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
European Journal of Human Genetics·2022· 13 citedOpen Access
Tissue mosaicism, <scp><i>FMR1</i></scp> expression and intellectual functioning in males with fragile X syndrome
American Journal of Medical Genetics Part A·2022· 11 citedOpen Access
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
Research Square (Research Square)·2022Open Access
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow
JAMA Network Open·2022· 34 citedOpen Access
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
Journal of Medical Genetics·2021· 18 citedOpen Access
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations
American Journal of Medical Genetics Part A·2021· 1 citedOpen Access
Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX
Genes·2021· 5 citedOpen Access
Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program
American Journal of Medical Genetics Part A·2021· 3 citedOpen Access
Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders
Translational Psychiatry·2020· 20 citedOpen Access
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Frequent Co-authors

David J. Amor(23), Minh Bui(21), David E. Godler(20), Howard R. Slater(17), Danuta Z. Loesch(11), Ling Ling(9), Carolyn Rogers(9), Emma K. Baker(8), Michael Field(8), Trent Burgess(7), Elsdon Storey(7), Marta Arpone(7), Lesley Bretherton(7), Charles E. Schwartz(6), Ralph Oertel(6), Randi J. Hagerman(6), John L. Hopper(6), Solange Aliaga(6), David R. Thorburn(5), Matthew F. Hunter(5)