Utility of droplet digital polymerase chain reaction for studying somatic mosaicism: brain malformations and beyond

por Lee, Wei Shern, Lockhart, Paul J.
Publicado 2023

ASK1 inhibition: a therapeutic strategy with multi-system benefits

por Ogier, Jacqueline M., Nayagam, Bryony A., Lockhart, Paul J.
Publicado 2020

RFC1-Related Disease: Molecular and Clinical Insights

por Davies, Kayli, Szmulewicz, David J., Corben, Louise A., Delatycki, Martin, Lockhart, Paul J.
Publicado 2022

Recent advances in the detection of repeat expansions with short-read next-generation sequencing

por Bahlo, Melanie, Bennett, Mark F, Degorski, Peter, Tankard, Rick M, Delatycki, Martin B, Lockhart, Paul J
Publicado 2018

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis

por Lee, Wei Shern, Baldassari, Sara, Stephenson, Sarah E. M., Lockhart, Paul J., Baulac, Stéphanie, Leventer, Richard J.
Publicado 2022

Long Range Regulation of Human FXN Gene Expression

por Puspasari, Novita, Rowley, Simone M., Gordon, Lavinia, Lockhart, Paul J., Ioannou, Panos A., Delatycki, Martin B., Sarsero, Joseph P.
Publicado 2011

Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort

por Gao, Yujing, Wilson, Gabrielle R., Salce, Nicholas, Romano, Alexandra, Mellick, George D., Stephenson, Sarah E. M., Lockhart, Paul J.
Publicado 2020

Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing

por Rafehi, Haloom, Green, Cherie, Bozaoglu, Kiymet, Gillies, Greta, Delatycki, Martin B., Lockhart, Paul J., Scheffer, Ingrid E., Bahlo, Melanie
Publicado 2022

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line

por Stephenson, Sarah E. M., Aumann, Timothy D., Taylor, Juliet M., Riseley, Jessica R., Li, Ruili, Mann, Jeffrey R., Tomas, Doris, Lockhart, Paul J.
Publicado 2018

The COMT Val158 allele is associated with impaired delayed-match-to-sample performance in ADHD

por Matthews, Natasha, Vance, Alasdair, Cummins, Tarrant D R, Wagner, Joseph, Connolly, Amanda, Yamada, Jacqueline, Lockhart, Paul J, Panwar, Ajay, Wallace, Robyn H, Bellgrove, Mark A
Publicado 2012

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

por Lee, Wei Shern, Baldassari, Sara, Chipaux, Mathilde, Adle‐Biassette, Homa, Stephenson, Sarah E. M., Maixner, Wirginia, Harvey, A. Simon, Lockhart, Paul J., Baulac, Stéphanie, Leventer, Richard J.
Publicado 2021

Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia

por Lee, Wei Shern, Macdonald‐Laurs, Emma, Stephenson, Sarah E M, D'Arcy, Colleen, MacGregor, Duncan, Leventer, Richard J, Maixner, Wirginia, Harvey, A Simon, Lockhart, Paul J
Publicado 2022

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

por Amor, David J., Marsh, Ashley P.L., Storey, Elsdon, Tankard, Rick, Gillies, Greta, Delatycki, Martin B., Pope, Kate, Bromhead, Catherine, Leventer, Richard J., Bahlo, Melanie, Lockhart, Paul J.
Publicado 2016

Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing

por Stutterd, Chloe A, Brock, Stefanie, Stouffs, Katrien, Fanjul-Fernandez, Miriam, Lockhart, Paul J, McGillivray, George, Mandelstam, Simone, Pope, Kate, Delatycki, Martin B, Jansen, Anna, Leventer, Richard J
Publicado 2020

Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14

por Stutterd, Chloe, Diakumis, Peter, Bahlo, Melanie, Fanjul Fernandez, Miriam, Leventer, Richard J., Delatycki, Martin, Amor, David, Chow, Chung W., Stephenson, Sarah, Meisler, Miriam H., Mclean, Catriona, Lockhart, Paul J.
Publicado 2017

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

por Smith, Katherine R, Bromhead, Catherine J, Hildebrand, Michael S, Shearer, A Eliot, Lockhart, Paul J, Najmabadi, Hossein, Leventer, Richard J, McGillivray, George, Amor, David J, Smith, Richard J, Bahlo, Melanie
Publicado 2011

Distribution of Parkinson’s disease associated RAB39B in mouse brain tissue

por Gao, Yujing, Wilson, Gabrielle R., Stephenson, Sarah E. M., Oulad-Abdelghani, Mustapha, Charlet-Berguerand, Nicolas, Bozaoglu, Kiymet, McLean, Catriona A., Thomas, Paul Q., Finkelstein, David I., Lockhart, Paul J.
Publicado 2020

ASK1 is a novel molecular target for preventing aminoglycoside-induced hair cell death

por Ogier, Jacqueline M., Gao, Yujing, Dunne, Eileen M., Wilson, Michael A., Ranganathan, Sarath C., Tesch, Gregory H., Nikolic Paterson, David J., Dabdoub, Alain, Burt, Rachel A., Nayagam, Bryony A., Lockhart, Paul J.
Publicado 2022

Correction to: ASK1 is a novel molecular target for preventing aminoglycoside‑induced hair cell death

por Ogier, Jacqueline M., Gao, Yujing, Dunne, Eileen M., Wilson, Michael A., Ranganathan, Sarath C., Tesch, Gregory H., Nikolic Paterson, David J., Dabdoub, Alain, Burt, Rachel A., Nayagam, Bryony A., Lockhart, Paul J.
Publicado 2022

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

por Trevis, Krysta J., Brown, Natasha J., Green, Cherie C., Lockhart, Paul J., Desai, Tarishi, Vick, Tanya, Anderson, Vicki, Pua, Emmanuel P. K., Bahlo, Melanie, Delatycki, Martin B., Scheffer, Ingrid E., Wilson, Sarah J.
Publicado 2020