J. Jacobsen

发表

Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disability

J. C. Jacobsen, R. Snell, W. Whitford, 2021, Journal of Human Genetics.

An ovine transgenic Huntington's disease model.

M. MacDonald, J. C. Jacobsen, R. Snell, 2010, Human molecular genetics.

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

Ira M. Hall, Ryan E. Mills, Toshiro K. Ohsumi, 2012, Nature Genetics.

Loss of Drosophila Coq8 results in impaired survival, locomotor deficits and photoreceptor degeneration

J. C. Jacobsen, H. Fitzsimons, Wei Tan, 2022, Molecular Brain.

Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.

Rosamund Hill, S. Robertson, J. C. Jacobsen, 2018, JIMD reports.

The New Zealand minds for minds autism spectrum disorder self-reported cohort

Michael W Taylor, Michael W. Taylor, Rosamund Hill, 2017 .

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Somatic CAG Repeat Stability in a Transgenic Sheep Model of Huntington’s Disease

T. Gillis, M. MacDonald, V. Wheeler, 2024, Journal of Huntington's disease.

Metabolic disruption identified in the Huntington’s disease transgenic sheep model

M. MacDonald, J. C. Jacobsen, R. Snell, 2016, Scientific Reports.

Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates.

M. MacDonald, J. C. Jacobsen, R. Snell, 2013, Journal of Huntington's disease.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

M. Minczuk, J. C. Jacobsen, R. Snell, 2023, JIMD reports.

Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer

J. C. Jacobsen, R. Snell, W. Whitford, 2022, Scientific Reports.

Optimised multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer

J. C. Jacobsen, R. Snell, W. Whitford, 2021, bioRxiv.

Potential molecular consequences of transgene integration: The R6/2 mouse example

M. MacDonald, S. Erdin, J. C. Jacobsen, 2017, Scientific Reports.

HD CAG-correlated gene expression changes support a simple dominant gain of function.

M. MacDonald, I. Kohane, K. Coser, 2011, Human molecular genetics.

Penetrance and expressivity of the R858H CACNA1C variant in a five‐generation pedigree segregating an arrhythmogenic channelopathy

J. C. Jacobsen, J. Skinner, R. Snell, 2018, Molecular genetics & genomic medicine.

De novo network analysis reveals autism causal genes and developmental links to co-occurring traits

J. C. Jacobsen, J. O'Sullivan, Jörg Simon Wicker, 2023, Life Science Alliance.

Genomic medicine must reduce, not compound, health inequities: the case for hauora-enhancing genomic resources for New Zealand.

S. Robertson, J. Hindmarsh, S. Berry, 2018, The New Zealand medical journal.