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Anthony Vandersteen
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Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.
Asokan KL, Landes JR, Renders W, Muiño Mosquera L, De Backer J, Jantzen DW, Yetman AT, Teixido-Tura G, Evangelista A, Jeremy R, Jones EG, Morris S, Doan T, Ouzonian M, Braverman A, Jondeau G, Milleron O, Milewicz DM, Prakash SK, Montalcino Aortic Consortium *
J Am Heart Assoc, 13(21):e036274, 18 Oct 2024
Cited by: 0 articles | PMID: 39424426
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Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.
Vorsteveld EE, Van der Made CI, Smeekens SP, Schuurs-Hoeijmakers JH, Astuti G, Diepstra H, Gilissen C, Hoenselaar E, Janssen A, van Roozendaal K, Engelen JS, Steyaert W, Weiss MM, Yntema HG, Mantere T, AlZahrani MS, van Aerde K, Derfalvi B, Faqeih EA, [...] Hoischen A
Clin Immunol, 268:110375, 05 Oct 2024
Cited by: 0 articles | PMID: 39369972
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Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis
Vorsteveld EE, Van der Made CI, Smeekens SP, Schuurs-Hoeijmakers JH, Astuti G, Diepstra H, Gilissen C, Hoenselaar E, Janssen A, van Roozendaal K, Sikkema-van Engelen J, Steyaert W, Weiss MM, Yntema HG, Mantere T, AlZahrani MS, van Aerde K, Derfalvi B, Faqeih EA, [...] Hoischen A
medRxiv, 17 Jun 2024
Cited by: 0 articles | PPR: PPR868466
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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
Vandersteen AM, Weerakkody RA, Parry DA, Kanonidou C, Toddie-Moore DJ, Vandrovcova J, Darlay R, Santoyo-Lopez J, Meynert A, NIHR BioResource, Kazkaz H, Grahame R, Cummings C, Bartlett M, Ghali N, Brady AF, Pope FM, van Dijk FS, Cordell HJ, Aitman TJ
J Med Genet, 61(3):232-238, 21 Feb 2024
Cited by: 1 article | PMID: 37813462
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Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C, Buhas D, Butcher NJ, Chan AKJ, Dyack S, Goobie S, Greenberg CR, Jain-Ghai S, Inbar-Feigenberg M, Karp N, [...] Chakraborty P
BMC Pediatr, 24(1):37, 13 Jan 2024
Cited by: 0 articles | PMID: 38216926 | PMCID: PMC10787451
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Cohort profile: the Utrecht Cardiovascular Cohort-Second Manifestations of Arterial Disease (UCC-SMART) Study-an ongoing prospective cohort study of patients at high cardiovascular risk in the Netherlands.
Castelijns MC, Helmink MAG, Hageman SHJ, Asselbergs FW, de Borst GJ, Bots ML, Cramer MJ, Dorresteijn JAN, Emmelot-Vonk MH, Geerlings MI, de Jong PA, van der Kaaij NP, Kappelle LJ, Lely AT, van der Meer MG, Mol BM, Nathoe HM, Onland-Moret NC, van Petersen RB, [...] Visseren FLJ
BMJ Open, 13(2):e066952, 20 Feb 2023
Cited by: 5 articles | PMID: 36806141 | PMCID: PMC9944278
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Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Loveday C, Garrett A, Law P, Hanks S, Poyastro-Pearson E, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, [...] Turnbull C
Ann Oncol, 33(12):1318-1327, 17 Sep 2022
Cited by: 7 articles | PMID: 36122798
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Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.
Colman M, Castori M, Micale L, Ritelli M, Colombi M, Ghali N, Van Dijk F, Marsili L, Weeks A, Vandersteen A, Rideout A, Legrand A, Frank M, Mirault T, Ferraris A, Di Giosaffatte N, Grammatico P, Grunert J, Frank C, [...] Malfait F
Clin Exp Rheumatol, 40 Suppl 134(5):46-62, 18 May 2022
Cited by: 5 articles | PMID: 35587586
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Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity.
Malik A, Stringer E, Warner N, van Limbergen J, Vandersteen A, Muise A, Derfalvi B
Pediatrics, 148(5):e2021050614, 22 Oct 2021
Cited by: 1 article | PMID: 34686572 | PMCID: PMC9359614
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Prodrugs of a 1'-CN-4-Aza-7,9-dideazaadenosine C-Nucleoside Leading to the Discovery of Remdesivir (GS-5734) as a Potent Inhibitor of Respiratory Syncytial Virus with Efficacy in the African Green Monkey Model of RSV.
Mackman RL, Hui HC, Perron M, Murakami E, Palmiotti C, Lee G, Stray K, Zhang L, Goyal B, Chun K, Byun D, Siegel D, Simonovich S, Du Pont V, Pitts J, Babusis D, Vijjapurapu A, Lu X, Kim C, [...] Cihlar T
J Med Chem, 64(8):5001-5017, 09 Apr 2021
Cited by: 34 articles | PMID: 33835812
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Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.
Pinard A, Fiander MDJ, Cecchi AC, Rideout AL, Azouz M, Fraser SM, McNeely PD, Walling S, Novara SC, Hurst ACE, Guo D, Parkash S, Bamshad MJ, Nickerson DA, Vandersteen AM, Milewicz DM
Neurology, 96(13):e1783-e1791, 10 Feb 2021
Cited by: 15 articles | PMID: 33568546 | PMCID: PMC8055312
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Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
Verstraeten A, Perik MHAM, Baranowska AA, Meester JAN, Van Den Heuvel L, Bastianen J, Kempers M, Krapels IPC, Maas A, Rideout A, Vandersteen A, Sobey G, Johnson D, Fransen E, Ghali N, Webb T, Al-Hussaini A, de Leeuw P, Delmotte P, [...] Collaborators of the European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI)
Circulation, 142(10):1021-1024, 08 Sep 2020
Cited by: 18 articles | PMID: 32897753
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Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, [...] Smith KGC
Nature, 584(7819):E2, 01 Aug 2020
Cited by: 4 articles | PMID: 32678341
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Arterial complications in classical Ehlers-Danlos syndrome: a case series.
Angwin C, Brady AF, Pope FM, Vandersteen A, Baker D, Cheema H, Sobey G, Johnson D, von Klemperer K, Kazkaz H, van Dijk F, Ghali N
J Med Genet, 57(11):769-776, 28 May 2020
Cited by: 3 articles | PMID: 32467296
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Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, [...] Ouwehand WH
Nature, 583(7814):96-102, 24 Jun 2020
Cited by: 233 articles | PMID: 32581362 | PMCID: PMC7610553
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Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.
Green C, Ghali N, Akilapa R, Angwin C, Baker D, Bartlett M, Bowen J, Brady AF, Brock J, Chamberlain E, Cheema H, McConnell V, Crookes R, Kazkaz H, Johnson D, Pope FM, Vandersteen A, Sobey G, van Dijk FS
Genet Med, 22(10):1576-1582, 23 Jun 2020
Cited by: 11 articles | PMID: 32572181
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Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Tingley K, Lamoureux M, Pugliese M, Geraghty MT, Kronick JB, Potter BK, Coyle D, Wilson K, Kowalski M, Austin V, Brunel-Guitton C, Buhas D, Chan AKJ, Dyack S, Feigenbaum A, Giezen A, Goobie S, Greenberg CR, Ghai SJ, [...] Canadian Inherited Metabolic Diseases Research Network
Orphanet J Rare Dis, 15(1):89, 10 Apr 2020
Cited by: 5 articles | PMID: 32276663 | PMCID: PMC7149838
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Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, [...] Smith KGC
Nature, 583(7814):90-95, 06 May 2020
Cited by: 102 articles | PMID: 32499645 | PMCID: PMC7334047
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Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Ayoub S, Ghali N, Angwin C, Baker D, Baffini S, Brady AF, Giovannucci Uzielli ML, Giunta C, Johnson DS, Kosho T, Neas K, Pope FM, Rutsch F, Scarselli G, Sobey G, Vandersteen A, van Dijk FS
Am J Med Genet A, 182(5):994-1007, 24 Feb 2020
Cited by: 6 articles | PMID: 32091183
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The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Boycott KM, Campeau PM, Howley HE, Pavlidis P, Rogic S, Oriel C, Berman JN, Hamilton RM, Hicks GG, Lipshitz HD, Masson JY, Shoubridge EA, Junker A, Leroux MR, McMaster CR, Michaud JL, Turvey SE, Dyment D, Innes AM, [...] Hieter P
Am J Hum Genet, 106(2):143-152, 01 Feb 2020
Cited by: 27 articles | PMID: 32032513 | PMCID: PMC7010971
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COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, [...] Castori M
Clin Genet, 97(3):396-406, 12 Dec 2019
Cited by: 20 articles | PMID: 31794058
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A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.
Karoulias SZ, Beyens A, Balic Z, Symoens S, Vandersteen A, Rideout AL, Dickinson J, Callewaert B, Hubmacher D
Matrix Biol, 88:1-18, 11 Nov 2019
Cited by: 22 articles | PMID: 31726086
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, [...] Depienne C
Genet Med, 22(3):524-537, 03 Oct 2019
Cited by: 13 articles | PMID: 31578471 | PMCID: PMC9063678
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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Aitken S, Firth HV, McRae J, Halachev M, Kini U, Parker MJ, Lees MM, Lachlan K, Sarkar A, Joss S, Splitt M, McKee S, Németh AH, Scott RH, Wright CF, Marsh JA, Hurles ME, FitzPatrick DR, DDD Study
Am J Hum Genet, 105(5):933-946, 10 Oct 2019
Cited by: 5 articles | PMID: 31607427 | PMCID: PMC6848993
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Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.
Angwin C, Ghali N, Baker D, Brady AF, Pope FM, Vandersteen A, Wagner B, Ferguson DJP, van Dijk FS
Br J Dermatol, 182(3):698-707, 21 Aug 2019
Cited by: 12 articles | PMID: 31141158
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1-25 of 85 results

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

Suggested authors matching "AUTH:Vandersteen A" with an ORCID

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Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium.

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

Cohort profile: the Utrecht Cardiovascular Cohort-Second Manifestations of Arterial Disease (UCC-SMART) Study-an ongoing prospective cohort study of patients at high cardiovascular risk in the Netherlands.

Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.

Multisystem Autoimmune Inflammatory Disease, Including Colitis, Due to Inborn Error of Immunity.

Prodrugs of a 1'-CN-4-Aza-7,9-dideazaadenosine C-Nucleoside Leading to the Discovery of Remdesivir (GS-5734) as a Potent Inhibitor of Respiratory Syncytial Virus with Efficacy in the African Green Monkey Model of RSV.

Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Arterial complications in classical Ehlers-Danlos syndrome: a case series.

Whole-genome sequencing of patients with rare diseases in a national health system.

Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility.

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.

The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations.

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