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Search life-sciences literature (45,103,589 articles, preprints and more)

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Current applications of artificial intelligence for Fuchs endothelial corneal dystrophy: a systematic review
Liu S, Kandakji L, Stupnicki A, Sumodhee D, Leucci M, Hau S, Balal S, Okonkwo A, Moghul I, Allan B, Gore DM, Muthusamy K, Hardcastle A, Davidson AE, Liskova P, Pontikos N
medRxiv, 18 Nov 2024
Cited by: 0 articles | PPR: PPR941311
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Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity
Liu S, Sadan AN, Bhattacharyya N, Zarouchlioti C, Szabo A, Costa MA, Hafford-Tear NJ, Kladny AS, Dudakova L, Ciosi M, Moghul I, Wilkins MR, Allan B, Skalicka P, Hardcastle AJ, Pontikos N, Bunce C, Monckton DG, Muthusamy K, [...] Davidson AE
medRxiv, 01 Oct 2024
Cited by: 0 articles | PPR: PPR918430
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Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments
Cheerie D, Meserve M, Beijer D, Kaiwar C, Newton L, Tavares ALT, Verran AS, Sherrill E, Leonard S, Sanders SJ, Blake E, Elkhateeb N, Gandhi A, Liang NSY, Morgan JT, Verwillow A, Verheijen J, Giles A, Williams S, [...] Lauffer MC
medRxiv, 28 Sep 2024
Cited by: 0 articles | PPR: PPR916784
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Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.
Zarouchlioti C, Efthymiou S, Facchini S, Dominik N, Bhattacharyya N, Liu S, Costa MA, Szabo A, Sadan AN, Jun AS, Bugiardini E, Houlden H, Cortese A, Skalicka P, Dudakova L, Muthusamy K, Cheetham ME, Hardcastle AJ, Liskova P, [...] Davidson AE
EBioMedicine, 108:105328, 14 Sep 2024
Cited by: 0 articles | PMID: 39278108 | PMCID: PMC11419830
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Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.
Braddock FL, Gardner JC, Bhattacharyya N, Sanchez-Pintado B, Costa M, Zarouchlioti C, Szabo A, Lišková P, Cheetham ME, Young RD, Thaung C, Davidson AE, Tuft SJ, Hardcastle AJ
Eur J Hum Genet, 21 Aug 2024
Cited by: 0 articles | PMID: 39169229
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Wearable sensors in patient acuity assessment in critical care.
Sena J, Mostafiz MT, Zhang J, Davidson AE, Bandyopadhyay S, Nerella S, Ren Y, Ozrazgat-Baslanti T, Shickel B, Loftus T, Schwartz WR, Bihorac A, Rashidi P
Front Neurol, 15:1386728, 09 May 2024
Cited by: 1 article | PMID: 38784909 | PMCID: PMC11112699
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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
Bhattacharyya N, Chai N, Hafford-Tear NJ, Sadan AN, Szabo A, Zarouchlioti C, Jedlickova J, Leung SK, Liao T, Dudakova L, Skalicka P, Parekh M, Moghul I, Jeffries AR, Cheetham ME, Muthusamy K, Hardcastle AJ, Pontikos N, Liskova P, [...] Davidson AE
PLoS Genet, 20(5):e1011230, 07 May 2024
Cited by: 1 article | PMID: 38713708 | PMCID: PMC11101122
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Tissue-Specific Dynamics ofTCF4Triplet Repeat Instability Revealed by Optical Genome Mapping
Zarouchlioti C, Efthymiou S, Fracchini S, Dominik N, Bhattacharyya N, Liu S, Costa MA, Szabo A, Sadan AN, Jun AS, Bugiardini E, Houlden H, Cortese A, Skalicka P, Dudakova L, Muthusamy K, Cheetham ME, Hardcastle AJ, Liskova P, [...] Davidson AE
bioRxiv, 30 Mar 2024
Cited by: 0 articles | PPR: PPR829780
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Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, [...] Smedley D
medRxiv, 21 Dec 2023
Cited by: 0 articles | PPR: PPR777550
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Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
Patterson K, Chong JX, Chung DD, Lisch W, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Müller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, Ibrahim A, Mandel H, Davidson AE, Liskova P, Aldave AJ, [...] Janecke AR
Am J Ophthalmol, 258:183-195, 14 Nov 2023
Cited by: 1 article | PMID: 37972748
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Profiling of repetitive RNA sequences in the blood plasma of patients with cancer.
Reggiardo RE, Maroli SV, Peddu V, Davidson AE, Hill A, LaMontagne E, Aaraj YA, Jain M, Chan SY, Kim DH
Nat Biomed Eng, 7(12):1627-1635, 31 Aug 2023
Cited by: 4 articles | PMID: 37652985 | PMCID: PMC10727983
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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease
Bhattacharyya N, Chai N, Hafford-Tear NJ, Sadan AN, Szabo A, Zarouchlioti C, Jedlickova J, Leung SK, Liao T, Dudakova L, Skalicka P, Parekh M, Moghul I, Jeffries AR, Cheetham ME, Muthusamy K, Hardcastle AJ, Pontikos N, Liskova P, [...] Davidson AE
bioRxiv, 29 Mar 2023
Cited by: 0 articles | PPR: PPR637692
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Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
Liu S, Sadan AN, Muthusamy K, Zarouchlioti C, Jedlickova J, Pontikos N, Thaung C, Hardcastle AJ, Netukova M, Skalicka P, Dudakova L, Bunce C, Tuft SJ, Davidson AE, Liskova P
Acta Ophthalmol, 101(6):679-686, 07 Mar 2023
Cited by: 0 articles | PMID: 36883248
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A New Transgenic Tool to Study the Ret Signaling Pathway in the Enteric Nervous System.
Bandla A, Melancon E, Taylor CR, Davidson AE, Eisen JS, Ganz J
Int J Mol Sci, 23(24):15667, 10 Dec 2022
Cited by: 5 articles | PMID: 36555308 | PMCID: PMC9779438
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A Systematic Review on Participant Diversity in Clinical Trials-Have We Made Progress for the Management of Obesity and Its Metabolic Sequelae in Diet, Drug, and Surgical Trials.
Johnson-Mann CN, Cupka JS, Ro A, Davidson AE, Armfield BA, Miralles F, Markal A, Fierman KE, Hough V, Newsom M, Verma I, Dozic AV, Bihorac A
J Racial Ethn Health Disparities, 10(6):3140-3149, 19 Dec 2022
Cited by: 3 articles | PMID: 36536164 | PMCID: PMC10645628
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Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.
Taylor AS, Barros D, Gobet N, Schuepbach T, McAllister B, Aeschbach L, Randall EL, Trofimenko E, Heuchan ER, Barszcz P, Ciosi M, Morgan J, Hafford-Tear NJ, Davidson AE, Massey TH, Monckton DG, Jones L, Network RIOTEHD, Xenarios I, Dion V
NAR Genom Bioinform, 4(4):lqac089, 05 Dec 2022
Cited by: 2 articles | PMID: 36478959 | PMCID: PMC9719798
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Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant.
Skalicka P, Jedlickova J, Horinek A, Trkova M, Davidson AE, Tuft SJ, Dudakova L, Liskova P
J Clin Med, 11(17):5166, 31 Aug 2022
Cited by: 0 articles | PMID: 36079096 | PMCID: PMC9457150
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Fuchs endothelial corneal dystrophy: current perspectives on diagnostic pathology and genetics-Bowman Club Lecture.
Thaung C, Davidson AE
BMJ Open Ophthalmol, 7(1):e001103, 01 Jul 2022
Cited by: 9 articles | PMID: 36161831 | PMCID: PMC9341215
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Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing
Taylor AS, Barros D, Gobet N, Schuepbach T, McAllister B, Aeschbach L, Randall EL, Trofimenko E, Heuchan ER, Barszcz P, Ciosi M, Morgan J, Hafford-Tear NJ, Davidson AE, Massey TH, Monckton DG, Jones L, REGISTRY Investigators of the European Huntington’s disease network, Xenarios I, Dion V
bioRxiv, 09 Mar 2022
Cited by: 0 articles | PPR: PPR466978
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Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.
Liskova P, Hafford-Tear NJ, Skalicka P, Malinka F, Jedlickova J, Ďuďáková Ľ, Pontikos N, Davidson AE, Tuft S
Acta Ophthalmol, 100(7):e1426-e1430, 17 Feb 2022
Cited by: 1 article | PMID: 35174971
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Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
Dudakova L, Skalicka P, Davidson AE, Sadan AN, Chylova M, Jahnova H, Anteneova N, Tesarova M, Honzik T, Liskova P
Genes (Basel), 12(12):1918, 29 Nov 2021
Cited by: 0 articles | PMID: 34946867 | PMCID: PMC8702069
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Novel disease-causing variants and phenotypic features of X-linked megalocornea.
Dudakova L, Tuft S, Cheong SS, Skalicka P, Jedlickova J, Fichtl M, Hlozanek M, Filous A, Vaneckova M, Vincent AL, Hardcastle AJ, Davidson AE, Liskova P
Acta Ophthalmol, 100(4):431-439, 13 Oct 2021
Cited by: 1 article | PMID: 34644435
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A rapid F0 CRISPR screen in zebrafish to identify regulators of neuronal development in the enteric nervous system
Davidson AE, Straquadine NR, Cook SA, Liu CG, Ganz J
bioRxiv, 18 Jul 2021
Cited by: 0 articles | PPR: PPR371525
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Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.
Dudakova L, Stranecky V, Piherova L, Palecek T, Pontikos N, Kmoch S, Skalicka P, Vaneckova M, Davidson AE, Liskova P
Genes (Basel), 12(5):677, 30 Apr 2021
Cited by: 1 article | PMID: 33946386 | PMCID: PMC8146820
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A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
Hardcastle AJ, Liskova P, Bykhovskaya Y, McComish BJ, Davidson AE, Inglehearn CF, Li X, Choquet H, Habeeb M, Lucas SEM, Sahebjada S, Pontikos N, Lopez KER, Khawaja AP, Ali M, Dudakova L, Skalicka P, Van Dooren BTH, Geerards AJM, [...] Hysi PG
Commun Biol, 4(1):266, 01 Mar 2021
Cited by: 32 articles | PMID: 33649486 | PMCID: PMC7921564
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1-25 of 108 results

1 2 3 Next ...

Search life-sciences literature (45,103,589 articles, preprints and more)

Search results

Current applications of artificial intelligence for Fuchs endothelial corneal dystrophy: a systematic review

Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity

Consensus guidelines for eligibility assessment of pathogenic variants to antisense oligonucleotide treatments

Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.

Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.

Wearable sensors in patient acuity assessment in critical care.

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.

Tissue-Specific Dynamics ofTCF4Triplet Repeat Instability Revealed by Optical Genome Mapping

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.

Profiling of repetitive RNA sequences in the blood plasma of patients with cancer.

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.

A New Transgenic Tool to Study the Ret Signaling Pathway in the Enteric Nervous System.

A Systematic Review on Participant Diversity in Clinical Trials-Have We Made Progress for the Management of Obesity and Its Metabolic Sequelae in Diet, Drug, and Surgical Trials.

Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.

Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a Novel FOXC1 Variant.

Fuchs endothelial corneal dystrophy: current perspectives on diagnostic pathology and genetics-Bowman Club Lecture.

Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing

Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.

Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

Novel disease-causing variants and phenotypic features of X-linked megalocornea.

A rapid F0 CRISPR screen in zebrafish to identify regulators of neuronal development in the enteric nervous system

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.

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