Anna Jarmolowicz

Design, implementation and evaluation of a model of care for patients with germline predisposition to haematological malignancy and bone marrow failure syndromes

Lucy C. Fox, Erin Goode, Nicole den Elzen, Lin Cheng et autres

BACKGROUND: The bone marrow failure syndromes (BMFS) are clinically heterogeneous conditions with both inherited and acquired etiologies. Optimal care is often challenged by the complexity of these disorders and gaps in healthcare delivery. The Evaluating Multidisciplinary Bone maRrow fAilure CarE (EMBRACE) study …

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Parental attitudes and experiences in pursuing genetic testing for their child’s motor speech disorder

Yong‐Quan Lee, Mariana Lauretta, Anna Jarmolowicz, David J. Amor et autres

au (code pays fourni par la source)

An Investigation of Barriers and Enablers for Genetics in Speech-Language Pathology Explored Through a Case Study of Childhood Apraxia of Speech

Mariana Lauretta, Anna Jarmolowicz, David J. Amor, Stephanie Best et autres

PURPOSE: Advancements in genetic testing and analysis have allowed improved identification of the genetic basis of childhood apraxia of speech, a rare speech presentation. This study aimed to understand speech-language pathologists' (SLPs') consideration of incorporation of genetics in clinical practice using a …

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Methyl‐CpG binding domain 4, DNA glycosylase ( MBD4 )‐associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype

Piers Blombery, Georgina L. Ryland, Lucy C. Fox, Zornitza Stark et autres

The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. The Journal also features annotations, reviews, short reports, images in haematology and Letters to the Editor.

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Personal utility of genomic sequencing for infants with congenital deafness

Erin Tutty, David J. Amor, Anna Jarmolowicz, Kate Paton et autres

Decisions about genetic testing have traditionally been based on clinical utility and cost, but personal utility is increasingly recognized when assessing the value of testing. Whole exome sequencing (WES) was offered to a population cohort of 106 infants diagnosed with congenital hearing …

au (code pays fourni par la source)

Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program

Anna Jarmolowicz, Emma K. Baker, Essra Bartlett, David Francis et autres

Fragile X syndrome (FXS) is caused by CGG expansions of ≥200 repeats (full mutation: FM). Typically, FM causes abnormal methylation of the FMR1 promoter and silencing of FMR1, leading to reduction of FMRP, a protein essential for normal neurodevelopment. However, if unmethylated, …

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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

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Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

Lilian Downie, Jane Halliday, Rachel Burt, Sebastian Lunke et autres

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Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Kushani Jayasinghe, Zornitza Stark, Peter G. Kerr, Clara Gaff et autres

PURPOSE: To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. METHODS: We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at …

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A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Alison Yeung, Natalie B. Tan, Tiong Yang Tan, Zornitza Stark et autres

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Whole Exome Sequencing (WES) enhances the diagnostic rate of perinatal autopsy: A prospective clinical utility trial with implications for prenatal diagnosis

Fiona Chan, Alison Yeung, Anand Vasudevan, Zornitza Stark et autres

au (code pays fourni par la source)

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

Lilian Downie, Jane Halliday, Sharon Lewis, Sebastian Lunke et autres

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