L. Worgan

发表

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

S. Aftimos, A. Slavotinek, J. Moeschler, 2009, Journal of Medical Genetics.

User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia

T. Roscioli, B. Meiser, K. Barlow-Stewart, 2018, Journal of genetic counseling.

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

H. Hakonarson, Yiran Guo, D. Adams, 2020, Molecular genetics and metabolism.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders.

A. Ohtake, M. Ryan, D. Thorburn, 2004, Biochimica et biophysica acta.

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.

Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”

M. Cowley, T. Roscioli, K. Barlow-Stewart, 2018, Genetics in Medicine.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Beth K. Martin, Martin, J. Shendure, 2016, JCI insight.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

A. Verner, P. Lepage, D. Rosenblatt, 2006, Human mutation.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Colin A. Johnson, I. Glass, S. Bowdin, 2015, Journal of Medical Genetics.

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.

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant

C. T. Pappas, C. Gregorio, T. Roscioli, 2021, European Journal of Human Genetics.

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.

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature 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.

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

J. Gécz, W. Chung, H. Hakonarson, 2021, American journal of human genetics.

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

M. Bamshad, V. Caputo, A. Pizzuti, 2016, American journal of human genetics.

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

M. Bamshad, V. Caputo, A. Pizzuti, 2016, bioRxiv.

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.

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction

Alexandre Y Marbaix, N. Sobreira, J. Christodoulou, 2017, American journal of medical genetics. Part A.

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

Robert W. Taylor, S. Mansour, G. Saretzki, 2010, Brain : a journal of neurology.

Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.

P. Panegyres, Ramesh K. Narayanan, M. Kennerson, 2023, Cerebellum.

Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”

M. Cowley, T. Roscioli, K. Barlow-Stewart, 2018, Genetics in Medicine.

Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)

D. Roquis, D. Watkins, L. Worgan, 2007, Human mutation.