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Mary‐Louise Freckmann

Observed names: Freckmann, Mary-Louise, M.‐L. Freckmann, Mary Louise Freckmann, Mary-Louise Freckmann
Observed institutions: Royal North Shore Hospital, Canberra Hospital, UNSW Sydney, Northern Sydney Local Health District, St George Hospital, Sydney Children's Hospital, Act Health, ACT Government
ORCID: 0000-0002-9390-1312
Observed ORCID: 0000-0002-9390-1312
OpenAlex ID: A5010937298
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
2013 · Peter R. Baker, Marisa W. Friederich, et al. · Brain · 223
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Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
2018 · Lisa J. Ewans, Deborah Schofield, et al. · Genetics in Medicine · 197
Integrated multi-omics for rapid rare disease diagnosis on a national scale
2023 · Sebastian Lunke, Sophie E. Bouffler, et al. · Nature Medicine · 155
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Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
2019 · Magdalena Koczkowska, Tom Callens, et al. · Human Mutation · 134
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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
2022 · Lisa J. Ewans, Andre E. Minoche, et al. · European Journal of Human Genetics · 123
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Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11
2008 · Christian R. Marshall, Edwin J. Young, et al. · The American Journal of Human Genetics · 121
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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
2015 · Emily J. Todd, Kyle S. Yau, et al. · Orphanet Journal of Rare Diseases · 118
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Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families
2000 · Denise M. Kirby, Stephen G. Kahler, et al. · Annals of Neurology · 107
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
2017 · Rea M Lardelli, Ashleigh E Schaffer, et al. · Nature Genetics · 99
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
2021 · Adam M. Bournazos, Lisa G. Riley, et al. · Genetics in Medicine · 97
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
2020 · Ann E. Frazier, Alison G. Compton, et al. · Med · 68
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Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome
2013 · Kerry A. Miller, Casey J. Ah-Cann, et al. · PLoS Genetics · 64
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Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
2014 · Monique Van Scherpenzeel, Sharita Timal, et al. · Brain · 53
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A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
2017 · Eric Lee, Trang Le, et al. · Genetics in Medicine · 41
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GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
2020 · Christine Shieh, Natasha Jones, et al. · Genetics in Medicine · 34
Variants in ACTG 2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction
2018 · G. Ravenscroft, S. Pannell, et al. · Neurogastroenterology & Motility · 28
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Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
2018 · Vinod Dagar, Wendy Hutchison, et al. · Clinical Epigenetics · 21
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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
2025 · Daniella H. Hock, Nikeisha J. Caruana, et al. · Genome Medicine · 19
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Paediatric genomic testing: Navigating medicare rebatable genomic testing
2021 · Rani Sachdev, Mike Field, et al. · Journal of Paediatrics and Child Health · 19
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Azoospermia and paternal autosomal ring chromosomes: case report and literature review
2011 · Hemashree Rajesh, Mary-Louise Freckmann, et al. · Reproductive BioMedicine Online · 19
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Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature
2010 · Jason R Pinner, Mary-Louise Freckmann, et al. · Journal of Medical Case Reports · 13
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Mitochondrial electron transport chain defect presenting as hypoglycemia
1997 · Mary-Louise Freckmann, David R. Thorburn, et al. · The Journal of Pediatrics · 12
Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability
2022 · Polakit Teekakirikul, Wenjuan Zhu, et al. · Cell Reports Medicine · 11
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Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing
2024 · Megan Ball, Sophie E. Bouffler, et al. · Genetics in Medicine · 8
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Paediatric genomic testing: Navigating genomic reports for the general paediatrician
2021 · Margit Shah, Arthavan Selvanathan, et al. · Journal of Paediatrics and Child Health · 6
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Works count: 33
Citation count: 1,899
H-index: 19
I10-index: 24
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