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Search life-sciences literature (45,104,145 articles, preprints and more)

Suggested authors matching "AUTH:Bahlo M" with an ORCID

Melanie Bahlo
The Walter and Eliza Hall Institute of Medical Research
16
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12,868
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Peripheral immune cell abundance differences link blood mitochondrial DNA copy number and Parkinson's disease.
Wang L, Han J, Fearnley LG, Milton M, Rafehi H, Reid J, Gerring ZF, Masaldan S, Lang T, Speed TP, Bahlo M
NPJ Parkinsons Dis, 10(1):219, 14 Nov 2024
Cited by: 0 articles | PMID: 39543161 | PMCID: PMC11564539
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Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.
Oliver KL, Scheffer IE, Ellis CA, Grinton BE, Epi4K Consortium, Berkovic SF, Bahlo M
EBioMedicine, 109:105404, 30 Oct 2024
Cited by: 0 articles | PMID: 39476534 | PMCID: PMC11558038
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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Epi25 Collaborative
Nat Neurosci, 27(10):1864-1879, 03 Oct 2024
Cited by: 0 articles | PMID: 39363051
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Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, [...] Ravenscroft G
Nat Commun, 15(1):8955, 17 Oct 2024
Cited by: 0 articles | PMID: 39419991 | PMCID: PMC11487183
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Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration:HTRA1/lncRNABX842242.1dominates, with no evidence for Complement Cascade involvement
Farashi S, Abbott CJ, Ansell BR, Wu Z, Altay L, Arnon E, Arnould L, Bagdasarova Y, Balaskas K, Chen FK, Chew E, Chowers I, Clarke S, Cukras C, Delcourt C, Delyfer M, den Hollander AI, Fauser S, Finger RP, [...] Bahlo M
medRxiv, 28 Sep 2024
Cited by: 0 articles | PPR: PPR916793
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Deep Learning-Based Detection of Reticular Pseudodrusen in Age-Related Macular Degeneration on Optical Coherence Tomography
Kumar H, Bagdasarova Y, Song S, Hickey DG, Cohn AC, Okada M, Finger RP, Terheyden JH, Hogg RE, Gabrielle P, Arnould L, Jannaud M, Hadoux X, van Wijngaarden P, Abbott CJ, Hodgson LA, Schwartz R, Tufail A, Chew EY, [...] Wu Z
medRxiv, 12 Sep 2024
Cited by: 0 articles | PPR: PPR909643
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Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).
Abou Chaar W, Eranki AN, Stevens HA, Watson SL, Wong DY, Avila VS, Delfeld M, Gary AJ, Tawde S, Triebold M, Cherchi M, Xie T, Lockhart PJ, Bahlo M, Pellerin D, Dicaire MJ, Danzi M, Zuchner S, Brais BC, [...] Gomez CM
Ann Neurol, 96(6):1092-1103, 12 Sep 2024
Cited by: 0 articles | PMID: 39263992
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A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.
Davies KC, Fearnley LG, Snell P, Bourke D, Mossman S, Kyne K, McKeown C, Delatycki MB, Bahlo M, Lockhart PJ
J Neurol, 09 Sep 2024
Cited by: 0 articles | PMID: 39249106
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Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias.
Ellis CA, Oliver KL, Harris RV, Ottman R, Scheffer IE, Mefford HC, Epstein MP, Berkovic SF, Bahlo M
Am J Hum Genet, 111(9):1805-1809, 20 Aug 2024
Cited by: 0 articles | PMID: 39168121
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Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Lévesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, [...] McPherson PS
Nat Commun, 15(1):7239, 22 Aug 2024
Cited by: 0 articles | PMID: 39174524 | PMCID: PMC11341845
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Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.
Hildebrand MS, Braden RO, Lauretta ML, Kaspi A, Leventer RJ, Anderson M, Goel H, Bahlo M, Scheffer IE, Amor DJ, Janowski R, Niessing D, Morgan AT
Neurol Genet, 10(5):e200181, 06 Aug 2024
Cited by: 0 articles | PMID: 39131487 | PMCID: PMC11309559
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Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.
Wallis M, Bodek SD, Munro J, Rafehi H, Bennett MF, Ye Z, Schneider A, Gardiner F, Valente G, Murdoch E, Uebergang E, Hunter J, Stutterd C, Huq A, Salmon L, Scheffer I, Eratne D, Meyn S, Fong CY, [...] Berkovic SF
Orphanet J Rare Dis, 19(1):288, 02 Aug 2024
Cited by: 0 articles | PMID: 39095811 | PMCID: PMC11297648
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UKB.COVID19: an R package for UK Biobank COVID-19 data processing and analysis
Wang L, Jackson VE, Fearnley LG, Bahlo M
F1000Res, 26 Jul 2024
Cited by: 0 articles | PPR: PPR887418
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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, [...] Ravenscroft G
Nat Commun, 15(1):6327, 27 Jul 2024
Cited by: 3 articles | PMID: 39068203 | PMCID: PMC11283466
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Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia
Rafehi H, Fearnley LG, Read J, Snell P, Davies KC, Scott L, Gillies G, Thompson GC, Field TA, Eldo A, Bodek S, Butler E, Chen L, Drago J, Goel H, Hackett A, Halmagyi GM, Hannaford A, Kotschet K, [...] Lockhart PJ
medRxiv, 16 Jul 2024
Cited by: 0 articles | PPR: PPR881489
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TBtypeR: Sensitive detection and sublineage classification of low-frequencyMycobacterium tuberculosiscomplex mixed infections
Munro JE, Coussens AK, Bahlo M
medRxiv, 13 Jun 2024
Cited by: 0 articles | PPR: PPR866884
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Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry.
Henden L, Fearnley LG, Southwood D, Smith A, Rowe DB, Kiernan MC, Pamphlett R, Bahlo M, Blair IP, Williams KL
Amyotroph Lateral Scler Frontotemporal Degener, 25(5-6):644-647, 10 May 2024
Cited by: 0 articles | PMID: 38726482
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Unveiling Peripheral Immune Dysfunction in Parkinson’s Disease through Analysis of Blood-based Mitochondrial DNA Copy Number
Wang L, Han J, Fearnley LG, Milton M, Rafehi H, Reid J, Gerring Z, Masaldan S, Lang T, Speed TP, Bahlo M
medRxiv, 30 Apr 2024
Cited by: 0 articles | PPR: PPR845855
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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, O'Donnell-Luria A, O'Grady GL, Osei-Owusu IA, Rafehi H, [...] Cooper ST
Ann Clin Transl Neurol, 11(5):1250-1266, 27 Mar 2024
Cited by: 1 article | PMID: 38544359 | PMCID: PMC11093248
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Decreased Circulating Very Small Low-Density Lipoprotein is Likely Causal for Age-Related Macular Degeneration.
Farashi S, Bonelli R, Jackson VE, Ansell BRE, Guymer RH, Bahlo M
Ophthalmol Sci, 4(5):100535, 22 Apr 2024
Cited by: 0 articles | PMID: 39091897 | PMCID: PMC11292535
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Haemoglobin thresholds to define anaemia from age 6 months to 65 years: estimates from international data sources.
Braat S, Fielding KL, Han J, Jackson VE, Zaloumis S, Xu JXH, Moir-Meyer G, Blaauwendraad SM, Jaddoe VWV, Gaillard R, Parkin PC, Borkhoff CM, Keown-Stoneman CDG, Birken CS, Maguire JL, Genes & Health Research Team, Bahlo M, Davidson EM, Pasricha SR
Lancet Haematol, 11(4):e253-e264, 29 Feb 2024
Cited by: 1 article | PMID: 38432242 | PMCID: PMC10983828
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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, [...] Durr A
EBioMedicine, 99:104931, 27 Dec 2023
Cited by: 7 articles | PMID: 38150853 | PMCID: PMC10784672
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Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.
Nyaga DM, Hildebrand MS, de Valles-Ibáñez G, Keenan NF, Ye Z, LaFlamme CW, Mefford HC, Bennett MF, Bahlo M, Sadleir LG
Epilepsia Open, 9(2):758-764, 05 Jan 2024
Cited by: 1 article | PMID: 38129960 | PMCID: PMC10984288
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Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.
Rafehi H, Bennett MF, Bahlo M
Emerg Top Life Sci, 7(3):349-359, 01 Dec 2023
Cited by: 2 articles | PMID: 37733280 | PMCID: PMC10754322
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Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data
Robertson E, Grinton BE, Oliver KL, Fearnley LG, Hildebrand MS, Sadleir LG, Scheffer IE, Berkovic SF, Bennett MF, Bahlo M
medRxiv, 22 Dec 2023
Cited by: 0 articles | PPR: PPR777532
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1-25 of 370 results

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Search life-sciences literature (45,104,145 articles, preprints and more)

Suggested authors matching "AUTH:Bahlo M" with an ORCID

Search results

Peripheral immune cell abundance differences link blood mitochondrial DNA copy number and Parkinson's disease.

Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Genetic Risk of Reticular Pseudodrusen in Age-Related Macular Degeneration:HTRA1/lncRNABX842242.1dominates, with no evidence for Complement Cascade involvement

Deep Learning-Based Detection of Reticular Pseudodrusen in Age-Related Macular Degeneration on Optical Coherence Tomography

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).

A multi-exon RFC1 deletion in a case of CANVAS: expanding the genetic mechanism of disease.

Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

UKB.COVID19: an R package for UK Biobank COVID-19 data processing and analysis

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

TBtypeR: Sensitive detection and sublineage classification of low-frequencyMycobacterium tuberculosiscomplex mixed infections

Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry.

Unveiling Peripheral Immune Dysfunction in Parkinson’s Disease through Analysis of Blood-based Mitochondrial DNA Copy Number

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Decreased Circulating Very Small Low-Density Lipoprotein is Likely Causal for Age-Related Macular Degeneration.

Haemoglobin thresholds to define anaemia from age 6 months to 65 years: estimates from international data sources.

Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.

Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

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