Publications:

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Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)

Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2022-12-20

Variant appearance in text: CFTR: M952I

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

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Secondary findings in a large Pakistani cohort tested with whole genome sequencing.

Life Science Alliance

Skrahin, Aliaksandr A; Cheema, Huma Arshad HA; Hussain, Maqbool M; Rana, Nuzhat Noureen NN; Rehman, Khalil Ur KU; Kumar, Raman R; Oprea, Gabriela G; Ameziane, Najim N; Rolfs, Arndt A; Skrahina, Volha V

Publication Date: 2023-03

Variant appearance in text: CFTR: 2856G>A; Met952Ile

PubMed Link: 36635046

Variant Present in the following documents:

• LSA-2022-01673_TableS2.xlsx, sheet 1

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Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.

International Journal Of Neonatal Screening

Bianchimani, Chiara C; Dolce, Daniela D; Centrone, Claudia C; Campana, Silvia S; Ravenni, Novella N; Orioli, Tommaso T; Camera, Erica E; Mergni, Gianfranco G; Fevola, Cristina C; Bonomi, Paolo P; Taccetti, Giovanni G; Terlizzi, Vito V

Publication Date: 2022-08-03

Variant appearance in text: CFTR: M952I

PubMed Link: 35997436

Variant Present in the following documents:

• Main text
• IJNS-08-00046.pdf

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Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics

Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA

Publication Date: 2022

Variant appearance in text: CFTR: M952I

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.pdf

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs151048781

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs151048781

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

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Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes

Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A

Publication Date: 2021-01-31

Variant appearance in text: CFTR: M952I

PubMed Link: 33572515

Variant Present in the following documents:

• Main text
• genes-12-00206.pdf

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The true panel of cystic fibrosis mutations in the Sicilian population.

Bmc Medical Genetics

Chamayou, Sandrine S; Sicali, Maria M; Lombardo, Debora D; Maglia, Elena E; Liprino, Annalisa A; Cardea, Clementina C; Fichera, Michele M; Venti, Ermanno E; Guglielmino, Antonino A

Publication Date: 2020-05-01

Variant appearance in text: CFTR: M952I

PubMed Link: 32357917

Variant Present in the following documents:

• Main text
• 12881_2020_Article_958.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs151048781

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature.

Annals Of Thoracic Medicine

Chami, Hassan H; Arbid, Samer Abou SA; Badra, Rebecca R; Farra, Chantal C

Publication Date: 2017

Variant appearance in text: CFTR: M952I

PubMed Link: 29118863

Variant Present in the following documents:

• Main text
• ATM-12-290.pdf

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Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations.

Human Genetics

Yang, Xiaohong R XR; Rotunno, Melissa M; Xiao, Yanzi Y; Ingvar, Christian C; Helgadottir, Hildur H; Pastorino, Lorenza L; van Doorn, Remco R; Bennett, Hunter H; Graham, Cole C; Sampson, Joshua N JN; Malasky, Michael M; Vogt, Aurelie A; Zhu, Bin B; Bianchi-Scarra, Giovanna G; Bruno, William W; Queirolo, Paola P; Fornarini, Giuseppe G; Hansson, Johan J; Tuominen, Rainer R; Burdett, Laurie L; Hicks, Belynda B; Hutchinson, Amy A; Jones, Kristine K; Yeager, Meredith M; Chanock, Stephen J SJ; Landi, Maria Teresa MT; Höiom, Veronica V; Olsson, Håkan H; Gruis, Nelleke N; Ghiorzo, Paola P; Tucker, Margaret A MA; Goldstein, Alisa M AM

Publication Date: 2016-11

Variant appearance in text: CFTR: M952I; rs151048781

PubMed Link: 27449771

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: N/A

PubMed Link: 26206375

Variant Present in the following documents:

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs151048781

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.

Plos Genetics

LaRusch, Jessica J; Jung, Jinsei J; General, Ignacio J IJ; Lewis, Michele D MD; Park, Hyun Woo HW; Brand, Randall E RE; Gelrud, Andres A; Anderson, Michelle A MA; Banks, Peter A PA; Conwell, Darwin D; Lawrence, Christopher C; Romagnuolo, Joseph J; Baillie, John J; Alkaade, Samer S; Cote, Gregory G; Gardner, Timothy B TB; Amann, Stephen T ST; Slivka, Adam A; Sandhu, Bimaljit B; Aloe, Amy A; Kienholz, Michelle L ML; Yadav, Dhiraj D; Barmada, M Michael MM; Bahar, Ivet I; Lee, Min Goo MG; Whitcomb, David C DC; ,

Publication Date: 2014-07

Variant appearance in text: CFTR: M952I

PubMed Link: 25033378

Variant Present in the following documents:

• Main text
• pgen.1004376.pdf

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Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.

Fertility And Sterility

Havasi, Viktoria V; Rowe, Steven M SM; Kolettis, Peter N PN; Dayangac, Didem D; Sahin, Ahmet A; Grangeia, Ana A; Carvalho, Filipa F; Barros, Alberto A; Sousa, Mario M; Bassas, Lluis L; Casals, Teresa T; Sorscher, Eric J EJ

Publication Date: 2010-11

Variant appearance in text: CFTR: M952I

PubMed Link: 20100616

Variant Present in the following documents:

• Main text

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Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders.

The Journal Of Molecular Diagnostics : Jmd

Bareil, Corinne C; Guittard, Caroline C; Altieri, Jean-Pierre JP; Templin, Carine C; Claustres, Mireille M; des Georges, Marie M

Publication Date: 2007-11

Variant appearance in text: CFTR: M952I

PubMed Link: 17975025

Variant Present in the following documents:

• Main text

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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

Bmc Medical Genetics

Claustres, Mireille M; Altiéri, Jean-Pierre JP; Guittard, Caroline C; Templin, Carine C; Chevalier-Porst, Françoise F; Des Georges, Marie M

Publication Date: 2004-08-02

Variant appearance in text: CFTR: M952I

PubMed Link: 15287992

Variant Present in the following documents:

• Main text
• 1471-2350-5-19.pdf

View BVdb publication page

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