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

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Standardizing variant naming in literature with VariantValidator to increase diagnostic rates.
Freeman PJ, Wagstaff JF, Fokkema IFAC, Cutting GR, Rehm HL, Davies AC, den Dunnen JT, Gretton LJ, Dalgleish R
Nat Genet, 56(11):2284-2286, 01 Nov 2024
Cited by: 0 articles | PMID: 39358598
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Recurrent Small Variants in NESP55/NESPAS Associated with Broad GNAS Methylation Defects and Pseudohypoparathyroidism Type 1b.
Li D, Jan de Beur S, Hou C, Ruzhnikov MR, Seeley H, Cutting GR, Sheridan MB, Levine MA
JCI Insight, e185874, 14 Nov 2024
Cited by: 0 articles | PMID: 39541438
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Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates.
Freeman PJ, Wagstaff JF, Fokkema IFAC, Cutting GR, Rehm HL, Davies AC, den Dunnen JT, Gretton LJ, Dalgleish R
Nat Genet, 56(11):2574, 01 Nov 2024
Cited by: 0 articles | PMID: 39472695
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Investigation of CFTR Function in Human Nasal Epithelial Cells Informs Personalized Medicine.
Pion A, Kavanagh E, Joynt AT, Raraigh KS, Vanscoy L, Langfelder-Schwind E, McNamara J, Moore B, Patel S, Merlo K, Temme R, Capurro V, Pesce E, Merlo C, Pedemonte N, Cutting GR, Sharma N
Am J Respir Cell Mol Biol, 71(5):577-588, 01 Nov 2024
Cited by: 0 articles | PMID: 39012815
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Genetic modifiers of body mass index in individuals with cystic fibrosis.
Ling H, Raraigh KS, Pugh EW, Aksit MA, Zhang P, Pace RG, Faino AV, Bamshad MJ, Gibson RL, O'Neal W, Knowles MR, Blackman SM, Cutting GR, CF Genome Project
Am J Hum Genet, 111(10):2203-2218, 10 Sep 2024
Cited by: 0 articles | PMID: 39260370
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Ligand-free biodegradable poly(beta-amino ester) nanoparticles for targeted systemic delivery of mRNA to the lungs.
Kavanagh EW, Tzeng SY, Sharma N, Cutting GR, Green JJ
Biomaterials, 313:122753, 20 Aug 2024
Cited by: 0 articles | PMID: 39217793
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Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Stenton SL, Pejaver V, Bergquist T, Biesecker LG, Byrne AB, Nadeau EAW, Greenblatt MS, Harrison SM, Tavtigian SV, Radivojac P, Brenner SE, O'Donnell-Luria A, ClinGen Sequence Variant Interpretation Working Group
Genet Med, 26(11):101213, 25 Jul 2024
Cited by: 2 articles | PMID: 39030733
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Establishment of a conditionally reprogrammed primary eccrine sweat gland culture for evaluation of tissue-specific CFTR function.
Eastman AC, Rosson G, Kim N, Kang S, Raraigh K, Goff LA, Merlo C, Lechtzin N, Cutting GR, Sharma N
J Cyst Fibros, S1569-1993(24)00783-5, 04 Jul 2024
Cited by: 0 articles | PMID: 38969603
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The clinical utility of sequencing the entirety of CFTR.
Sheridan MB, Aksit MA, Pagel K, Hetrick K, Shultz-Lutwyche H, Myers B, Buckingham KJ, Pace RG, Ling H, Pugh E, O'Neal WK, Bamshad MJ, Gibson RL, Knowles MR, Blackman SM, Cutting GR, Raraigh KS
J Cyst Fibros, 23(4):707-715, 11 May 2024
Cited by: 0 articles | PMID: 38734509
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Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Stonebraker JR, Pace RG, Gallins PJ, Dang H, Aksit MA, Faino AV, Gordon WW, MacParland S, Bamshad MJ, Gibson RL, Cutting GR, Durie PR, Wright FA, Zhou YH, Blackman SM, O'Neal WK, Ling SC, Knowles MR
Hepatology, 80(5):1012-1025, 27 Mar 2024
Cited by: 0 articles | PMID: 38536042
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MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric.
Sun Q, Yang Y, Rosen JD, Chen J, Li X, Guan W, Jiang MZ, Wen J, Pace RG, Blackman SM, Bamshad MJ, Gibson RL, Cutting GR, O'Neal WK, Knowles MR, Kooperberg C, Reiner AP, Raffield LM, Carson AP, [...] Li Y
Am J Hum Genet, 111(5):990-995, 17 Apr 2024
Cited by: 0 articles | PMID: 38636510 | PMCID: PMC11080605
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In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis.
Bihler H, Sivachenko A, Millen L, Bhatt P, Patel AT, Chin J, Bailey V, Musisi I, LaPan A, Allaire NE, Conte J, Simon NR, Magaret AS, Raraigh KS, Cutting GR, Skach WR, Bridges RJ, Thomas PJ, Mense M
J Cyst Fibros, 23(4):664-675, 22 Feb 2024
Cited by: 8 articles | PMID: 38388235
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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.
Critical Assessment of Genome Interpretation Consortium
Genome Biol, 25(1):53, 22 Feb 2024
Cited by: 19 articles | PMID: 38389099 | PMCID: PMC10882881
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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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Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor.
Li H, Rodrat M, Al-Salmani MK, Veselu DF, Han ST, Raraigh KS, Cutting GR, Sheppard DN
J Physiol, 602(2):333-354, 07 Jan 2024
Cited by: 1 article | PMID: 38186087
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Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K, Cavusoglu-Doran K, Joynt AT, Santos L, Sanz D, Eastman AC, Merlo C, Langfelder-Schwind E, Scallan MF, Farinha CM, Cutting GR, Sharma N, Harrison PT
Hum Mol Genet, 32(23):3237-3248, 01 Nov 2023
Cited by: 0 articles | PMID: 37649273 | PMCID: PMC10656707
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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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In VitroModulator Responsiveness of 655CFTRVariants Found in People With CF
Bihler H, Sivachenko A, Millen L, Bhatt P, Patel AT, Chin J, Bailey V, Musisi I, LaPan A, Allaire NE, Conte J, Simon NR, Magaret AS, Raraigh KS, Cutting GR, Skach WR, Bridges RJ, Thomas PJ, Mense M
bioRxiv, 11 Jul 2023
Cited by: 0 articles | PPR: PPR689307
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Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.
Joynt AT, Kavanagh EW, Newby GA, Mitchell S, Eastman AC, Paul KC, Bowling AD, Osorio DL, Merlo CA, Patel SU, Raraigh KS, Liu DR, Sharma N, Cutting GR
Mol Ther Nucleic Acids, 33:335-350, 29 Jun 2023
Cited by: 1 article | PMID: 37547293 | PMCID: PMC10400809
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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB, ClinGen Sequence Variant Interpretation Working Group
Am J Hum Genet, 110(7):1046-1067, 22 Jun 2023
Cited by: 51 articles | PMID: 37352859 | PMCID: PMC10357475
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Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Zhou YH, Gallins PJ, Pace RG, Dang H, Aksit MA, Blue EE, Buckingham KJ, Collaco JM, Faino AV, Gordon WW, Hetrick KN, Ling H, Liu W, Onchiri FM, Pagel K, Pugh EW, Raraigh KS, Rosenfeld M, Sun Q, [...] Knowles MR
Am J Respir Crit Care Med, 207(10):1324-1333, 01 May 2023
Cited by: 8 articles | PMID: 36921087 | PMCID: PMC10595435
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Extracellular vesicles enhance pulmonary transduction of stably associated adeno-associated virus following intratracheal administration.
Kwak G, Gololobova O, Sharma N, Caine C, Mazur M, Mulka K, West NE, Solomon GM, Cutting GR, Witwer KW, Rowe SM, Paulaitis M, Aslanidi G, Suk JS
J Extracell Vesicles, 12(6):e12324, 01 Jun 2023
Cited by: 5 articles | PMID: 37272896 | PMCID: PMC10241173
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The human embryonic genome is karyotypically complex, with chromosomally abnormal cells preferentially located away from the developing fetus.
Griffin DK, Brezina PR, Tobler K, Zhao Y, Silvestri G, Mccoy RC, Anchan R, Benner A, Cutting GR, Kearns WG
Hum Reprod, 38(1):180-188, 01 Jan 2023
Cited by: 9 articles | PMID: 36350568 | PMCID: PMC10089293
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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell-Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE, ClinGen Sequence Variant Interpretation Working Group
Am J Hum Genet, 109(12):2163-2177, 21 Nov 2022
Cited by: 139 articles | PMID: 36413997 | PMCID: PMC9748256
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Genetics of Cystic Fibrosis: Clinical Implications.
Joynt AT, Cutting GR, Sharma N
Clin Chest Med, 43(4):591-602, 01 Dec 2022
Cited by: 7 articles | PMID: 36344068
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ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction.
Sermet-Gaudelus I, Girodon E, Vermeulen F, Solomon GM, Melotti P, Graeber SY, Bronsveld I, Rowe SM, Wilschanski M, Tümmler B, Cutting GR, Gonska T
J Cyst Fibros, 21(6):922-936, 05 Oct 2022
Cited by: 10 articles | PMID: 36207272
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MagicalRsq: Machine-learning-based genotype imputation quality calibration.
Sun Q, Yang Y, Rosen JD, Jiang MZ, Chen J, Liu W, Wen J, Raffield LM, Pace RG, Zhou YH, Wright FA, Blackman SM, Bamshad MJ, Gibson RL, Cutting GR, Knowles MR, Schrider DR, Fuchsberger C, Li Y
Am J Hum Genet, 109(11):1986-1997, 04 Oct 2022
Cited by: 9 articles | PMID: 36198314 | PMCID: PMC9674945
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1-25 of 252 results

1 2 3 Next ...

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

Search results

Standardizing variant naming in literature with VariantValidator to increase diagnostic rates.

Recurrent Small Variants in NESP55/NESPAS Associated with Broad GNAS Methylation Defects and Pseudohypoparathyroidism Type 1b.

Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates.

Investigation of CFTR Function in Human Nasal Epithelial Cells Informs Personalized Medicine.

Genetic modifiers of body mass index in individuals with cystic fibrosis.

Ligand-free biodegradable poly(beta-amino ester) nanoparticles for targeted systemic delivery of mRNA to the lungs.

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.

Establishment of a conditionally reprogrammed primary eccrine sweat gland culture for evaluation of tissue-specific CFTR function.

The clinical utility of sequencing the entirety of CFTR.

Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.

MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric.

In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis.

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.

Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor.

Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.

In VitroModulator Responsiveness of 655CFTRVariants Found in People With CF

Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.

Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.

Extracellular vesicles enhance pulmonary transduction of stably associated adeno-associated virus following intratracheal administration.

The human embryonic genome is karyotypically complex, with chromosomally abnormal cells preferentially located away from the developing fetus.

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Genetics of Cystic Fibrosis: Clinical Implications.

ECFS standards of care on CFTR-related disorders: Diagnostic criteria of CFTR dysfunction.

MagicalRsq: Machine-learning-based genotype imputation quality calibration.

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