Maie Walsh

Establishing The Australian Undiagnosed Disease Network (UDN-Aus); Australia’s first national rare disease diagnostic network

Ellenore Martin, Madeleine Harris, Tegan Stait, Sarah Casauria et autres

au, us, gb (code pays fourni par la source)

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

James Fasham, Julia Rankin, Rachel Schot, Katrina M. Bell et autres

Complex neurodegenerative conditions have occasionally been associated with copy-number gains. Using microarray and genome sequencing on DNA samples from eleven individuals from nine unrelated families, we show that copy-number gains at 16p13.3 cause a severe, recognizable disorder characterized by early-onset progressive ataxia …

gb, nl, au (code pays fourni par la source)

A Diagnosis of Maturity-onset Diabetes of the Young Type 5 Provides Clarity and Broadens Reproductive Options

Jennifer Conn, Maie Walsh, Stefan C. Kane, Stephanie Hopkins et autres

Abstract Maturity-onset diabetes of the young type 5 (MODY5) is a rare form of monogenic diabetes caused by variants and deletions of the HNF1B gene. It is associated with a range of features including cystic renal disease, urogenital anomalies, and neurodevelopmental delay. …

au (code pays fourni par la source)

The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

Aimee L. Davidson, Uwe Dressel, Sarah Norris, Daffodil M. Canson et autres

BACKGROUND: Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer. METHODS: This multi-centre …

au (code pays fourni par la source)

Additional file 1 of The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

Aimee L. Davidson, Uwe Dressel, Sarah Norris, Daffodil M. Canson et autres

Additional file 1: Table S1. Clinical information for all individuals recruited inclusive of index cases and family members. Table S2. Recorded risk-management strategies and related parameters. Table S3. Virtual gene panels used. Table S4. Variants identified within the 195 index cases that …

au (code pays fourni par la source)

Clinical impact of whole-genome sequencing in patients with early-onset dementia

Aamira Huq, Bryony A. Thompson, Mark F. Bennett, Adam Bournazos et autres

Background In the clinical setting, identification of the genetic cause in patients with early-onset dementia (EOD) is challenging due to multiple types of genetic tests required to arrive at a diagnosis. Whole-genome sequencing (WGS) has the potential to serve as a single …

au (code pays fourni par la source)

Real world outcomes and implementation pathways of exome sequencing in an adult genetic department

Maie Walsh, Kirsty West, Jessica Taylor, Bryony A. Thompson et autres

au (code pays fourni par la source)

Clinically Responsive Genomic Analysis Pipelines

Samantha Sundercombe, Marina Berbic, Carey‐Anne Evans, Corrina Cliffe et autres

au (code pays fourni par la source)

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Dhamidhu Eratne, Amy Schneider, Ella Lynch, Melissa Martyn et autres

au (code pays fourni par la source)

Suicide in frontotemporal dementia and Huntington disease: analysis of family-reported pedigree data and implications for genetic healthcare for asymptomatic relatives

Adrienne Sexton, Kirsty West, Gulvir Gill, A. Wiseman et autres

OBJECTIVE: Genomic testing for early-onset dementia is becoming more accessible, along with predictive testing for at-risk relatives; however, complex counselling issues are important to address. The topic of suicide often has stigma associated, and thoughts or experiences may not be volunteered without …

au (code pays fourni par la source)

Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders

Fatima Abdelfattah, Ariana Kariminejad, Anne‐Karin Kahlert, Patrick J. Morrison et autres

Serine biosynthesis disorders comprise a spectrum of very rare autosomal recessive inborn errors of metabolism with wide phenotypic variability. Neu-Laxova syndrome represents the most severe expression and is characterized by multiple congenital anomalies and pre- or perinatal lethality. Here, we present the …

de, gb, tr, us, au, be, ca, es, nz, fr (code pays fourni par la source)

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy

Lisa G. Riley, Joëlle Rudinger‐Thirion, Magali Frugier, Meredith Wilson et autres

LARS2 variants are associated with Perrault syndrome, characterized by premature ovarian failure and hearing loss, and with an infantile lethal multisystem disorder: Hydrops, lactic acidosis, sideroblastic anemia (HLASA) in one individual. Recently we reported LARS2 deafness with (ovario) leukodystrophy. Here we describe …

au, fr, us (code pays fourni par la source)