Melanie Bahlo
#129,144
Most Influential Person Now
Australian geneticist
Melanie Bahlo's AcademicInfluence.com Rankings
Melanie Bahlobiology Degrees
Biology
#10661
World Rank
#14009
Historical Rank
Genetics
#1575
World Rank
#1681
Historical Rank
Download Badge
Biology
Melanie Bahlo's Degrees
- PhD Genetics University of Melbourne
- Bachelors Genetics University of Melbourne
Why Is Melanie Bahlo Influential?
(Suggest an Edit or Addition)According to Wikipedia, Melanie Bahlo is an Australian statistical geneticist and bioinformatician. Biography Bahlo’s interest with science and biology developed at a very young age. Growing up in Germany, she used to record the birds that came and visited her bird feeder during winter. Bahlo attended secondary school at Albury High School in Albury, Australia. She received her PhD in population genetics from Monash University in 1998. Bahlo's research interests include statistics, genetics, bioinformatics, and population genetics. Her work has "led to the discovery of new genes involved in genetic diseases such as deafness and epilepsy". She is a member of the team of scientists affiliated with the Lowy Medical Research Institute studying the genetic basis for macular telangiectasia type 2. She directed the most recent Genome Wide Association Study , which discovered common genetic variants associated with MacTel.
Melanie Bahlo's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- IL28B is associated with response to chronic hepatitis C interferon-α and ribavirin therapy (2009) (1941)
- Development of plasmacytoid and conventional dendritic cell subtypes from single precursor cells derived in vitro and in vivo (2007) (847)
- Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20 (2009) (540)
- Iron-overload-related disease in HFE hereditary hemochromatosis. (2008) (519)
- Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. (2012) (414)
- Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy (2012) (303)
- The Tasmanian Devil Transcriptome Reveals Schwann Cell Origins of a Clonally Transmissible Cancer (2009) (229)
- Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. (2008) (227)
- Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies (2018) (213)
- Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. (2010) (211)
- Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. (2014) (198)
- Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26. (2005) (195)
- Inference from gene trees in a subdivided population. (2000) (195)
- Identification and analysis of error types in high-throughput genotyping. (2000) (192)
- Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals (2019) (176)
- A Cav3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with Seizure Expression in a Polygenic Rat Model of Absence Epilepsy (2009) (171)
- An α‐E‐catenin (CTNNA1) mutation in hereditary diffuse gastric cancer (2013) (160)
- Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features (2014) (157)
- Genome-Wide Linkage Analysis of the Acute Coronary Syndrome Suggests a Locus on Chromosome 2 (2002) (147)
- Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. (2009) (145)
- Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data. (2018) (142)
- Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians (2008) (138)
- A Mouse Model of Harlequin Ichthyosis Delineates a Key Role for Abca12 in Lipid Homeostasis (2008) (136)
- Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. (2011) (136)
- Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. (2014) (129)
- Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy. (2019) (126)
- Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. (2011) (124)
- Polycomb Repressive Complex 2 (PRC2) Restricts Hematopoietic Stem Cell Activity (2008) (123)
- Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS (2019) (122)
- A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. (2010) (120)
- Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. (2004) (113)
- Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3 (2015) (112)
- Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. (2011) (111)
- Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. (2013) (107)
- A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. (2011) (101)
- A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development (2018) (99)
- High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA (2015) (94)
- GFI1B mutation causes a bleeding disorder with abnormal platelet function (2013) (94)
- Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with multiple sclerosis. (2002) (93)
- Genome-wide analyses identify common variants associated with macular telangiectasia type 2 (2017) (92)
- Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes (2011) (87)
- Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5 (2015) (87)
- Identification of improved IL28B SNPs and haplotypes for prediction of drug response in treatment of hepatitis C using massively parallel sequencing in a cross-sectional European cohort (2011) (86)
- A Polymorphism in the HLA-DPB1 Gene Is Associated with Susceptibility to Multiple Sclerosis (2010) (86)
- Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 (2019) (84)
- Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. (2012) (84)
- Recent advances in the detection of repeat expansions with short-read next-generation sequencing (2018) (80)
- Cpipe: a shared variant detection pipeline designed for diagnostic settings (2015) (79)
- A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders (2017) (78)
- Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. (2008) (74)
- Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (2019) (73)
- Generating linkage mapping files from Affymetrix SNP chip data (2009) (72)
- Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data. (2018) (71)
- Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria (2013) (70)
- A cross-platform approach identifies genetic regulators of human metabolism and health (2021) (69)
- Plasmodium vivax Populations Are More Genetically Diverse and Less Structured than Sympatric Plasmodium falciparum Populations (2015) (69)
- Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance (2017) (69)
- Dtangle: Accurate and Robust Cell Type Deconvolution (2018) (67)
- A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis (2009) (64)
- ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data (2019) (63)
- Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR (2015) (61)
- SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians. (2007) (60)
- A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. (2014) (60)
- Saliva-Derived DNA Performs Well in Large-Scale, High-Density Single-Nucleotide Polymorphism Microarray Studies (2010) (60)
- Identity-by-descent analyses for measuring population dynamics and selection in recombining pathogens (2018) (58)
- 'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. (2013) (58)
- A new dominantly inherited pure cerebellar ataxia, SCA 30 (2008) (58)
- Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy (2016) (58)
- Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania (2019) (57)
- Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype (2016) (56)
- The -590C/T and -34C/T interleukin-4 promoter polymorphisms are not associated with atopic eczema in childhood. (2001) (55)
- Agm1/Pgm3-Mediated Sugar Nucleotide Synthesis Is Essential for Hematopoiesis and Development (2007) (55)
- Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients (2010) (54)
- Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand (2010) (54)
- The Genetics of Epilepsy. (2020) (54)
- Comparison of clustering tools in R for medium-sized 10x Genomics single-cell RNA-sequencing data (2018) (54)
- Proteomic and Metabolomic Analyses of Mitochondrial Complex I-deficient Mouse Model Generated by Spontaneous B2 Short Interspersed Nuclear Element (SINE) Insertion into NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (Ndufs4) Gene* (2012) (53)
- Dating Rare Mutations from Small Samples with Dense Marker Data (2014) (53)
- CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis. (2020) (52)
- A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction (2020) (51)
- EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO (2017) (50)
- Blood pressure QTLs identified by genome-wide linkage analysis and dependence on associated phenotypes. (2002) (47)
- Systematic noise degrades gene co-expression signals but can be corrected (2015) (47)
- Structurally conserved erythrocyte-binding domain in Plasmodium provides a versatile scaffold for alternate receptor engagement (2015) (45)
- Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss (2009) (45)
- An ethyl-nitrosourea-induced point mutation in phex causes exon skipping, x-linked hypophosphatemia, and rickets. (2002) (45)
- De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. (2017) (44)
- Apolipoprotein genotype does not influence MS severity, cognition, or brain atrophy (2009) (44)
- Heterogeneity at the HLA-DRB1 allelic variation locus does not influence multiple sclerosis disease severity, brain atrophy or cognition (2011) (43)
- ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy. (2016) (42)
- Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis (2004) (42)
- X chromosome association testing in genome wide association studies (2011) (42)
- De novo and inherited private variants in MAP1B in periventricular nodular heterotopia (2018) (41)
- Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. (2015) (41)
- Mitochondrial Genome Sequence of the Scabies Mite Provides Insight into the Genetic Diversity of Individual Scabies Infections (2016) (39)
- Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation (2010) (37)
- A Mutation in Synaptojanin 2 Causes Progressive Hearing Loss in the ENU-Mutagenised Mouse Strain Mozart (2011) (36)
- A novel splice site mutation in EYA4 causes DFNA10 hearing loss (2007) (35)
- Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response (2019) (35)
- Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37 (2018) (34)
- Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain (2021) (34)
- Increasingly inbred and fragmented populations of Plasmodium vivax associated with the eastward decline in malaria transmission across the Southwest Pacific (2018) (32)
- Coalescence time for two genes from a subdivided population (2001) (31)
- Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. (2020) (30)
- Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome (2013) (30)
- Deficiency of 5-hydroxyisourate hydrolase causes hepatomegaly and hepatocellular carcinoma in mice (2010) (29)
- GNE myopathy in Roma patients homozygous for the p.I618T founder mutation (2015) (29)
- Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss (2015) (29)
- An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice. (2011) (29)
- Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population (2010) (29)
- Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes (2014) (28)
- Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells. (2012) (26)
- Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease) (2016) (25)
- Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 (2014) (25)
- PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy (2015) (24)
- Severe childhood speech disorder: gene discovery highlights transcriptional dysregulation (2019) (24)
- A novel X‐linked form of congenital fiber‐type disproportion (2005) (24)
- Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery (2014) (24)
- Cochlear Implants for DFNA17 Deafness (2006) (24)
- Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes (2020) (24)
- Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus. (2012) (24)
- Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. (2015) (23)
- Evaluation of non‐coding variation in GLUT1 deficiency (2016) (23)
- SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis (2008) (23)
- A novel mutation in COCH—implications for genotype‐phenotype correlations in DFNA9 hearing loss (2010) (22)
- Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. (2020) (22)
- Severe childhood speech disorder (2020) (21)
- Investigation of chromosome 2q in osteoarthritis of the hand: no significant linkage in a Tasmanian population (2002) (20)
- Multiplex families with epilepsy (2016) (20)
- Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype (2018) (20)
- Identifying nineteenth century genealogical links from genotypes (2005) (20)
- Use of copy number deletion polymorphisms to assess DNA chimerism. (2014) (20)
- Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 (2016) (20)
- Early neuroimaging markers of FOXP2 intragenic deletion (2016) (20)
- Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. (2021) (19)
- Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients (2007) (18)
- Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease (2020) (18)
- SNP barcodes provide higher resolution than microsatellite markers to measure Plasmodium vivax population genetics (2020) (18)
- In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery (2016) (17)
- A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family (2009) (17)
- Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder (2020) (17)
- Multiple sclerosis risk variants regulate gene expression in innate and adaptive immune cells (2020) (17)
- On the utility of data from the International HapMap Project for Australian association studies (2006) (17)
- Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14 (2017) (17)
- Correction: A Mouse Model of Harlequin Ichthyosis Delineates a Key Role for Abca12 in Lipid Homeostasis (2008) (17)
- XIBD: software for inferring pairwise identity by descent on the X chromosome (2016) (17)
- Pathogenic Variants in GPC4 Cause Keipert Syndrome. (2019) (16)
- Multipoint approximations of identity-by-descent probabilities for accurate linkage analysis of distantly related individuals. (2008) (16)
- Clonal multi-omics reveals Bcor as a negative regulator of emergency dendritic cell development. (2021) (16)
- Mapping of the Plasmodium chabaudi Resistance Locus char2 (2006) (16)
- Neonatal BCG vaccination is associated with a long-term DNA methylation signature in circulating monocytes (2022) (16)
- Dorsal language stream anomalies in an inherited speech disorder (2019) (15)
- Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. (2018) (15)
- Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency (2016) (15)
- Cell-specific cis-regulatory elements and mechanisms of non-coding genetic disease in human retina and retinal organoids. (2022) (14)
- A recombination hotspot leads to sequence variability within a novel gene (AK005651) and contributes to type 1 diabetes susceptibility. (2010) (14)
- Erratum: Development of plasmacytoid and conventional dendritic cell subtypes from single precursor cells derived in vitro and in vivo (Nature Immunology (2007) 10.1038/ni1522) (2007) (14)
- Autosomal dominant vasovagal syncope (2013) (13)
- Using familial information for variant filtering in high-throughput sequencing studies (2014) (13)
- Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. (2015) (13)
- Molecular characterization of a novel X‐linked syndrome involving developmental delay and deafness (2007) (13)
- SNPs in putative regulatory regions identified by human mouse comparative sequencing and transcription factor binding site data (2002) (13)
- Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families (2020) (12)
- Candidate disease gene prediction using Gentrepid: application to a genome-wide association study on coronary artery disease (2013) (12)
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia (2019) (12)
- brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets (2017) (12)
- Challenges of diagnostic exome sequencing in an inbred founder population (2013) (12)
- Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data (2006) (12)
- Cross-platform genetic discovery of small molecule products of metabolism and application to clinical outcomes (2020) (11)
- Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity (2022) (11)
- Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy (2014) (11)
- EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO (2018) (11)
- Analysis of genome-wide association study data using the protein knowledge base (2011) (11)
- Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression (2020) (11)
- Detecting known repeat expansions with standard protocol next generation sequencing, towards developing a single screening test for neurological repeat expansion disorders (2017) (10)
- Evidence for a common genetic aetiology in high‐risk families with multiple haematological malignancy subtypes (2010) (10)
- Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy (2020) (10)
- G.P.41 The identification of LGMD2G (TCAP) in Australia (2012) (10)
- Infanticide vs. inherited cardiac arrhythmias (2020) (10)
- Cluster Headache: Comparing Clustering Tools for 10X Single Cell Sequencing Data (2017) (10)
- Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age (2010) (10)
- Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. (2017) (9)
- Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia. (2019) (9)
- SIS-seq, a molecular ‘time machine’, connects single cell fate with gene programs (2018) (9)
- Comparative genomics revealed adaptive admixture in Cryptosporidium hominis in Africa (2020) (9)
- Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update. (2019) (8)
- Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania (2019) (8)
- Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection (2019) (8)
- SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood (2017) (8)
- Global diversity and balancing selection of 23 leading Plasmodium falciparum candidate vaccine antigens (2022) (7)
- Eukaryote-Conserved Methylarginine Is Absent in Diplomonads and Functionally Compensated in Giardia (2020) (7)
- Keipert syndrome (Nasodigitoacoustic syndrome) is X‐linked and maps to Xq22.2–Xq28 (2007) (7)
- Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data (2020) (7)
- The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective (2020) (7)
- New insights into malaria susceptibility from the genomes of 17,000 individuals from Africa, Asia, and Oceania (2019) (7)
- Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1 (2020) (7)
- Detecting Selection Signals In Plasmodium falciparum Using Identity-By-Descent Analysis (2016) (7)
- Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2 (2019) (6)
- dtangle: accurate and fast cell-type deconvolution (2018) (6)
- Real time, field-deployable whole genome sequencing of malaria parasites using nanopore technology (2020) (6)
- Faculty Opinions recommendation of Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. (2018) (6)
- Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family (2018) (6)
- Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus (2021) (6)
- Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy (2022) (6)
- Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome (2015) (6)
- Contribution of rare genetic variants to drug response in absence epilepsy (2021) (6)
- PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus (2022) (6)
- The advantages of dense marker sets for linkage analysis with very large families (2007) (6)
- HumanMSD and MouseMSD: generating genetic maps for human and murine microsatellite markers (2004) (5)
- Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS (2020) (5)
- Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes (2022) (5)
- Multi-omic Analysis of Developing Human Retina and Organoids Reveals Cell-Specific Cis-Regulatory Elements and Mechanisms of Non-Coding Genetic Disease Risk (2021) (5)
- Clinical impact of whole-genome sequencing in patients with early-onset dementia (2022) (5)
- Maturity‐onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing (2014) (5)
- An intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14) (2022) (5)
- Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data (2017) (5)
- Gene expression dtangle: accurate and robust cell type deconvolution (2019) (4)
- Missense mutations in the MLKL ‘brace’ region lead to lethal neonatal inflammation in mice and are present in high frequency in humans (2019) (4)
- Probabilistic analysis of recessive mutagenesis screen strategies (2007) (4)
- Self‐reported impact of developmental stuttering across the lifespan (2022) (4)
- Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder. (2019) (4)
- A novel splice site mutation in EYA4 causes DFNA10 hearing loss (Am J Med Genet 143(14): 1599–1604) (2008) (4)
- Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease. (2021) (3)
- Evidence of linkage to chromosome 5p13.2‐q11.1 in a large inbred family with genetic generalized epilepsy (2018) (3)
- Segregating sites in a gene conversion model with mutation. (1998) (3)
- Progressive Myoclonus Epilepsies (2021) (3)
- Unlocking the global antigenic diversity and balancing selection of Plasmodium falciparum (2021) (3)
- Faculty Opinions recommendation of Genomewide Association Study of Severe COVID-19 with Respiratory Failure. (2020) (3)
- Transcriptome analysis of a ring chromosome 20 patient cohort (2020) (3)
- Loss‐of‐function variants in Kv11.1 cardiac channels as a biomarker for SUDEP (2021) (3)
- Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay (2018) (3)
- Population-level genome-wide STR discovery and validation for population structure and genetic diversity assessment of Plasmodium species (2022) (3)
- Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. (2022) (3)
- Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery (2022) (3)
- Using common genetic variants to find drugs for common epilepsies (2021) (3)
- A cross-platform approach identifies genetic regulators of human metabolism and health (2021) (2)
- Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy (2022) (2)
- Atypical development of Broca's area in a large family with inherited stuttering. (2021) (2)
- Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder (2021) (2)
- Genome‐wide genetic screen identifies host ubiquitination as important for Legionella pneumophila Dot/Icm effector translocation (2021) (2)
- GFI1B Mutation Causes a Platelet Function Defect With Reduced Alpha-Granule Content and Abnormal Aggregation Response (2013) (2)
- Healthiron: a longitudinal population study defining the burden of disease in HFE-associated hereditary hemochromatosis (2007) (2)
- Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions. (2022) (2)
- Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development (2022) (2)
- Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies (2021) (2)
- Long-term sustained malaria control leads to inbreeding and fragmentation of Plasmodium vivax populations (2016) (2)
- Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype (2021) (2)
- Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. (2019) (1)
- Erratum : Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 (The American Journal of Human Genetics (2018) 102(6) (1115–1125), (S000292971830140X), (10.1016/j.ajhg.2018.04.008)) (2019) (1)
- Cpipe: a shared variant detection pipeline designed for diagnostic settings (2015) (1)
- Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family (2018) (1)
- Validation of new tools to identify expanded repeats: an intronic pentamer expansion in RFC1 causes CANVAS (2019) (1)
- SNP barcodes provide higher resolution than microsatellite markers to measure Plasmodium vivax population genetics (2020) (1)
- Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression (2021) (1)
- A family study implicates GBE1 in the etiology of autism spectrum disorder (2021) (1)
- Genes4Epilepsy: an epilepsy gene resource. (2023) (1)
- High-resolution characterization of sequence signatures due to non-random cleavage of cell-free DNA (2015) (1)
- Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing (2022) (1)
- Bioinformatics-Based Identification of Expanded Repeats : A Non-reference Intronic Pentamer Expansion in RFC 1 Causes (2019) (1)
- Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study (2022) (1)
- Loss-of-function variants in the cardiac Kv11.1 channel as a genetic biomarker for SUDEP (2021) (1)
- The identification of LGMD2G (TCAP) in Australia (2012) (1)
- Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25 (2022) (1)
- The current state of multiple sclerosis genetic research. (2000) (1)
- A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction (2020) (1)
- Increasingly inbred and fragmented populations of Plasmodium vivax with declining transmission (2017) (1)
- Iron homeostasis governs erythroid phenotype in Polycythemia Vera (2022) (1)
- Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37 (2018) (1)
- UKB.COVID19: an R package for UK Biobank COVID-19 data processing and analysis (2021) (1)
- brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets (2017) (1)
- Systematic noise degrades gene co-expression signals but can be corrected (2015) (1)
- Whole exome sequencing combined with linkage analysis identifies a novel 3bp deletion in NR5A1 (2015) (1)
- ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data (2020) (1)
- Multiple sclerosis: a haplotype association study. (2005) (1)
- A survey of RNA editing at single-cell resolution links interneurons to schizophrenia and autism (2021) (1)
- Whole genome sequencing of CLL case (2011) (0)
- iPSC–derived retinal pigmented epithelial cells from patients with macular telangiectasia show decreased mitochondrial function (2023) (0)
- Genome-wide analyses identify common variants associated with macular telangiectasia type 2 (2017) (0)
- Faculty Opinions recommendation of Exome-based mapping and variant prioritization for inherited Mendelian disorders. (2014) (0)
- Acknowledgement to referees 2002 (2003) (0)
- Identical by descent L 1 CAM mutation in two apparently unrelated families with intellectual disability without L 1 syndrome (2015) (0)
- A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure. (2022) (0)
- A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA) syndrome (2011) (0)
- Update on X-linked intellectual disability (2015) (0)
- Gene discovery by high throughput genotyping in Australia (2001) (0)
- The expected number of alleles in a gene conversion model with mutation. (1999) (0)
- Familial Adult Myoclonic Epilepsy, Caused By A Pentanucleotide Repeat TTTCA Insertion In SAMD12, In Indian And Sri Lankan Families Extends The Occurrence Of This Mutation To A Wide Region Of Southern Asia (2019) (0)
- KCTD1 and Scalp-Ear-Nipple (‘Finlay–Marks’) syndrome may be associated with myopia and Thin basement membrane nephropathy through an effect on the collagen IV α3 and α4 chains (2022) (0)
- Detecting Relatedness within Malaria Samples (2015) (0)
- 3104 – CLONAL MULTI-OMICS METHODS SIS-SEQ AND SIS-SKEW REVEAL BCOR AS A NEGATIVE REGULATOR OF EMERGENCY DENDRITIC CELL DEVELOPMENT (2021) (0)
- G.O.3 Mutations in contactin-1, a neuronal cell adhesion molecule expressed at the neuromuscular junction, cause a novel form of congenital lethal myopathy (2008) (0)
- Searching for rare variants conferring susceptibility to multiple sclerosis (2012) (0)
- Faculty Opinions recommendation of Genome-wide profiling of heritable and de novo STR variations. (2018) (0)
- Population-level genome-wide STR typing in Plasmodium species reveals higher resolution population structure and genetic diversity relative to SNP typing (2021) (0)
- Getting to the root of MacTel: joint dissection of genetic risk loci and ocular phenotypes (2017) (0)
- Genetics of reticular pseudodrusen in age-related macular degeneration. (2022) (0)
- Faculty Opinions recommendation of Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease. (2016) (0)
- 2023 - SIS-SEQ IDENTIFIES THE EARLIEST LINEAGE PRIMING REGULATORS OF DENDRITIC CELL FATE (2019) (0)
- Linkage analysis of a large Tasmanian haematological cancer family (2007) (0)
- POPULATION STRUCTURE: THE PHYLO-DYNAMICS OF PLASMODIUM FALCIPARUM IN PAPUA NEW GUINEA (2015) (0)
- AmpSeqR: an R package for amplicon deep sequencing data analysis (2023) (0)
- An ENU recessive mutagenesis screen identifies a lethal mutation Abca12. (2013) (0)
- Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data (2019) (0)
- Faculty Opinions recommendation of High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. (2012) (0)
- Genetic and microstructural differences between gyri and sulci during gyrification in the cortical plate of fetal sheep (2019) (0)
- The HLA-DR2 Haplotype Causes an Earlier Age of Onset, But Does Not Affect Disease Severity, Cognition or Cerebral Atrophy in Multiple Sclerosis (2009) (0)
- Faculty Opinions recommendation of Dimethylguanidino valeric acid is a marker of liver fat and predicts diabetes. (2019) (0)
- Ultrafast, alignment-free detection of repeat expansions in next-generation DNA and RNA sequencing data (2021) (0)
- 06-P009 A role for Abca12 in regulating terminal differentiation and lipid balance in the developing epidermis (2009) (0)
- Apolipoprotein E4 genotype does not influence multiple sclerosis phenotype, severity, cognition or brain atrophy in a large Australian cohort (2008) (0)
- Faculty Opinions recommendation of Prioritizing Parkinson's disease genes using population-scale transcriptomic data. (2019) (0)
- Using familial information for variant filtering in high-throughput sequencing studies (2014) (0)
- the Victorian Collaborative Autism Study: A family and community study of the genetics of autism spectrum disorder (2016) (0)
- Sim et al-2015-Annals of Neurology.sup-1 (2016) (0)
- RELEASE Friday August 19 , 2005 Queensland scientists lead international study discovering Genes Behind Endometriosis (2005) (0)
- Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development (2023) (0)
- Faculty Opinions recommendation of Evidence for a common founder effect amongst South African and Zambian individuals with Spinocerebellar ataxia type 7. (2018) (0)
- A LARGE FAMILY WITH AUTOSOMAL DOMINANT NEUROCARDIOGENIC SYNCOPE (2009) (0)
- The Tasmanian familial leukaemia and lymphoma research study (2007) (0)
- Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia (2019) (0)
- Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance (2017) (0)
- Investigating the role of somatic mutations in malformations of brain development (2017) (0)
- Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2 (2019) (0)
- Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment (2022) (0)
- Identification of Susceptibility Genes for Haematological Maligancies (2011) (0)
- Faculty Opinions recommendation of A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. (2014) (0)
- PW283 Identification and characterisation of a novel hypertrophic cardiomyopathy gene (2014) (0)
- Detecting tandem repeat expansions in cohorts sequenced with short-read 1 sequencing data 2 3 (2018) (0)
- Faculty Opinions recommendation of Trans effects on gene expression can drive omnigenic inheritance. (2019) (0)
- Cell type and cortex-specific RNA editing in single human neurons informs neuropsychiatric disorders (2019) (0)
- Guiding and interpreting brain network classification with transcriptional data (2020) (0)
- Spatial distribution of metabolites in the retina and its relevance to studies of metabolic retinal disorders (2023) (0)
- Faculty Opinions recommendation of Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy. (2012) (0)
- Faculty Opinions recommendation of Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair. (2018) (0)
- Faculty Opinions recommendation of Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes. (2018) (0)
- Faculty Opinions recommendation of Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population. (2013) (0)
- Cancer Schwann Cell Origins of a Clonally Transmissible The Tasmanian Devil Transcriptome Reveals (2010) (0)
- Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci | NOVA. The University of Newcastle's Digital Repository (2011) (0)
- Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations (2021) (0)
- Faculty Opinions recommendation of De novo mutations in regulatory elements in neurodevelopmental disorders. (2018) (0)
- Familial Haematological Malignancies (2009) (0)
- EXOME SEQUENCING IN ROMA FAMILIES IDENTIFIES TANDEM GRM1 MUTATIONS IN A NOVEL FORM OF CONGENITAL CEREBELLAR ATAXIA (2013) (0)
- NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk (2022) (0)
- Faculty Opinions recommendation of Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. (2018) (0)
- Estimating genotyping error rate in a fine-mapping project. (2000) (0)
- Faculty Opinions recommendation of The genomic landscape of tuberous sclerosis complex. (2018) (0)
- Faculty Opinions recommendation of Monogenic and polygenic inheritance become instruments for clonal selection. (2020) (0)
- Gene conversion and the coalescent process (2021) (0)
- ExpansionHunter Denovo: a suite of tools for detecting novel expansions of short tandem repeats (2020) (0)
- Congenic mouse strains identify a novel gene for which allelic variation affects susceptibility to type 1 diabetes (47.9) (2011) (0)
- Nitric Oxide Synthase and Causes Hypertension and Vascular Dysfunction Loss of Collectrin, an Angiotensin-Converting Enzyme 2 Homolog, Uncouples Endothelial (2015) (0)
- IDENTIFYING GENETIC MODIFIERS OF BREAST CANCER RISK IN BRCA1 AND BRCA2 MUTATION CARRIERS IN THE CONSORTIUM OF INVESTIGATORS OF MODIFIERS OF BRCA1 AND BRCA2 (CIMBA) (2007) (0)
- Epilepsy with Early Ataxia (2015) (0)
- WWOX Developmental and Epileptic Encephalopathy (WWOX-DEE): understanding the epileptology and the mortality risk. (2023) (0)
- Faculty Opinions recommendation of Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. (2018) (0)
- Faculty Opinions recommendation of Leveraging polygenic functional enrichment to improve GWAS power. (2020) (0)
- P3.51 A new form of autosomal recessive myopathy associated with male hypogonadism links to chromosome 11q (2011) (0)
- Faculty Opinions recommendation of Detection of long repeat expansions from PCR-free whole-genome sequence data. (2018) (0)
- Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease (2022) (0)
- Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder (2021) (0)
- Intellectual Disability and Early-Onset Parkinson Disease with a-Synuclein Pathology (2014) (0)
- PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus (2022) (0)
- Whole-transcriptome RNA editing analysis in single cortical neurons links locus 15q11 with psychiatric illness (2019) (0)
- Repeat Expansion Disorders Enriched In An Australian And New Zealand Epi25 Year 1 Epilepsy Cohort (2019) (0)
- The HLA-DR2 genotype does not affect MS severity, cognition or brain atrophy (2009) (0)
- Title SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis Permalink (2008) (0)
- Characterization Of Focal And Generalized Epilepsy Polygenic Burden In 630,603 Individuals (2019) (0)
- University of Groningen Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH 3 (2018) (0)
- Familial Haematological malignancies: The Tasmanian experience (2010) (0)
- Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia (2023) (0)
- Identification and characterisation of a novel gene for cardiomyopathy (2014) (0)
- Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder (2021) (0)
- Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1 (2020) (0)
- Spatial distribution of metabolites in primate retina and its relevance to studies of human metabolic retinal disorders (2022) (0)
- Genetic dissection of the HLA region using haplotypes of Tasmanians with multiple sclerosis (2002) (0)
- Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 (2016) (0)
This paper list is powered by the following services:
Other Resources About Melanie Bahlo
What Schools Are Affiliated With Melanie Bahlo?
Melanie Bahlo is affiliated with the following schools:
