Melanie Leffler
A5076113922- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Cell Adhesion Molecules Research
- Autism Spectrum Disorder Research
- RNA regulation and disease
- RNA modifications and cancer
- Healthcare innovation and challenges
- Wnt/β-catenin signaling in development and cancer
- Family and Disability Support Research
- Neurotransmitter Receptor Influence on Behavior
- Protein Tyrosine Phosphatases
- Magnesium Alloys: Properties and Applications
- Medical and Biological Sciences
- Congenital heart defects research
- Ubiquitin and proteasome pathways
- Housing, Finance, and Neoliberalism
- Adolescent and Pediatric Healthcare
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Mast cells and histamine
- demographic modeling and climate adaptation
- Obsessive-Compulsive Spectrum Disorders
- Prenatal Screening and Diagnostics
- Cellular transport and secretion
- Protease and Inhibitor Mechanisms
Hunter Genetics
2015-2024
Hunter New England Local Health District
2023
VIB-UAntwerp Center for Molecular Neurology
2022
Antwerp University Hospital
2022
University of Antwerp
2022
Living with Disability
2020
American College of Clinical Pharmacy
2019
Australian National University
2015
We report two families with Brunner syndrome living in one state of Australia. The first family had a predicted protein-truncating variant monoamine oxidase A (MAOA) (p.S251KfsX2). Affected males mild intellectual disability (ID), obsessive behaviour, limited friendships and were introverted placid during clinical interview. disclosed episodic explosive aggression after diagnosis was made. second missense MAOA (p.R45W). borderline-mild ID, attention deficit disorder friendships. One history...
Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, presence movement disorders, level functional (in)dependence. In this observational study, patients with minimum age 18 years carrying (likely) pathogenic variant were recruited through medical genetics departments epilepsy centers. Treating clinicians completed clinical questionnaires...
Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females 2 males a de novo variant CLCN4 (6 previously unreported) 27 males, 3 15 asymptomatic female carriers 9 inherited variants (4 unreported). Intellectual ranged borderline profound....
Next generation genomic technologies have made a significant contribution to the understanding of genetic architecture human neurodevelopmental disorders. Copy number variants (CNVs) play an important role in genetics intellectual disability (ID). For many CNVs, and copy gains particular, responsible dosage-sensitive gene(s) been hard identify. We collected 18 different interstitial microduplications 1 microtriplication Xq25. There were 15 affected individuals from 6 families 13 singleton...
Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC5, THOC7, THOC6) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer. We previously missense splicing-defective THOC2 variants NDDs a broad range of other clinical features. Here we report 10 individuals from 9 families with rare including the first case recurrent variant (p.Arg77Cys), an additional individual intragenic microdeletion (Del-Ex37-38). Ex vivo testing patient-derived cell line...
The low copy tandem repeat area at Xq28 is prone to recurrent number gains, including the K/L mediated duplications of 300 kb size (herein described as duplication syndrome). We describe five families, nine males with duplications, some regions greater variation (CNV). summarise findings in 25 affected reported date. Within were variably by seizures, intellectual disability, and neurological features; however, one male a familial has normal intelligence, suggesting that this CNV not 100%...
Abstract People with intellectual disability (PWID) consistently identify the importance of health service information that is accessible and relevant. Resources tailored to support needs PWID can facilitate inclusivity in their care (including access genomic medicine) improve healthcare outcomes. Despite fact are commonly referred genetics services, there a lack appropriate resources help them prepare for appointments. We therefore aimed evaluate feasibility acceptability booklet read...
Most of the studies on cost intellectual disability are limited to a healthcare perspective or cohorts composed individuals where etiology condition is mixture genetic and non-genetic factors. When used in policy development, these can impact decisions made optimal allocation resources. In our study, we have developed static microsimulation model estimate healthcare, societal, lifetime with familial disability, an inheritable form condition, families government. The results from modeling...
Abstract A diagnosis of the X‐linked condition Fragile X syndrome (FXS) in a child commonly reveals mother's carrier status. Previous research focused on genetic counseling process for and maternal family, despite calls more support needs fathers. This study explored experiences fathers at least 1 year after their child's FXS to understand barriers enablers optimize health outcomes family. In‐depth interviews were conducted with 11 recruited through Australian Genetics Learning Disability...