M. Freckmann

发表

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

Jafar S. Jabbari, V. Mootha, Y. Okazaki, 2020, Med.

Paediatric genomic testing: Navigating genomic reports for the general paediatrician

G. Baynam, Y. Berman, M. Freckmann, 2021, Journal of paediatrics and child health.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

G. Ravenscroft, E. Todd, N. Romero, 2015, Orphanet Journal of Rare Diseases.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

D. Reddihough, M. Freckmann, D. Thorburn, 2000, Annals of neurology.

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

M. Cowley, M. Dinger, A. Minoche, 2022, European Journal of Human Genetics.

Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability

Ferhaan Ahmad, T. Wong, B. Keavney, 2021, Cell reports. Medicine.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

A. Hoischen, J. Veltman, G. Matthijs, 2014, Brain : a journal of neurology.

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Malene B. Rasmussen, T. Shaikh, C. Dieckmann, 2014, Brain : a journal of neurology.

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

M. Freckmann, E. Kirk, J. Pinner, 2010, Journal of medical case reports.

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

M. Cowley, M. Dinger, T. Roscioli, 2018, Genetics in Medicine.

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Gene W. Yeo, S. Gabriel, F. Baas, 2016, Nature Genetics.

Paediatric genomic testing: Navigating medicare rebatable genomic testing

J. Beilby, G. Baynam, Y. Berman, 2021, Journal of paediatrics and child health.

Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene

M. Freckmann, A. Kent, Belinda Dopita, 2011, Journal of paediatrics and child health.

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Marcel E Dinger, Michael Field, Velimir Gayevskiy, 2018, Genetics in Medicine.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, F. McKenzie, W. Lattanzi, 2017, Genetics in Medicine.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Juan I. Young, Rebecca C. Spillmann, S. Nelson, 2020, Genetics in Medicine.

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction

M. Kamm, G. Ravenscroft, N. Laing, 2018, Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society.

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

J. Bertram, P. Farlie, M. Freckmann, 2013, PLoS genetics.

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

E. Haan, A. Buckle, Meredith Wilson, 2018, Clinical Epigenetics.

Azoospermia and paternal autosomal ring chromosomes: case report and literature review.

M. Freckmann, Michael J Chapman, H. Rajesh, 2011, Reproductive biomedicine online.

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Christian R Marshall, Alexandre Reymond, Paige Kaplan, 2008, American journal of human genetics.

Osteopathia striata with cranial sclerosis owing to WTX gene defect

E. Haan, W. Hul, M. Barbosa, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Naevus of Ota presenting in two generations: a mother and daughter

M. Freckmann, D. Murrell, L. Martin, 2009, Journal of the European Academy of Dermatology and Venereology : JEADV.

Integrated multi-omics for rapid rare disease diagnosis on a national scale

S. Sandaradura, K. Kassahn, Meredith Wilson, 2023, Nature Medicine.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, E. Haan, F. McKenzie, 2018, Genetics in Medicine.

Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability

Ferhaan Ahmad, T. Wong, B. Keavney, 2022, Cell reports. Medicine.

The Mouseion at the JAXlibrary The Mouseion at the JAXlibrary

Ferhaan Ahmad, M. Rynkiewicz, A. Bais, 2022 .

Mitochondrial electron transport chain defect presenting as hypoglycemia.

M. Freckmann, D. Thorburn, D. Kirby, 1997, The Journal of pediatrics.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

A. Hoischen, J. Veltman, G. Matthijs, 2014, Brain : a journal of neurology.