Concepedia
Statistics
Publications
6
Citations
519
H-Index
Active since
1997
Affiliations
Sydney Children's Hospital(Current)
Murdoch Children's Research Institute
Royal Children's Hospital
Children's Hospital at Westmead
Radboud University Nijmegen
Mary-Louise Freckmann is an author at Sydney Children's Hospital specializing in life sciences, human genetics, and genetics.
Publications per year
1997–2020
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5
Peter R. Baker, Marisa W. Friederich, Michael A. Swanson et al. · Brain · 2013 · 223 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11
Christian R. Marshall, Edwin J. Young, Ariel M. Pani et al. · The American Journal of Human Genetics · 2008 · 123 citations · Full text
Life Sciences, Genetics, Molecular Genetics +11
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
Ann E. Frazier, Alison G. Compton, Yoshihito Kishita et al. · Med · 2020 · 70 citations · Full text
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
Monique van Scherpenzeel, Sharita Timal, Daisy Rymen et al. · Brain · 2014 · 53 citations · Full text
Life Sciences, Biochemistry, Genetics +17
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
Eric Lee, Trang T. Le, Ying Zhu et al. · Genetics in Medicine · 2017 · 39 citations · Full text
Medicine, Bioinformatics, Craniofacial Genetics +12
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