Publications:

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BEAT CF pulmonary exacerbations core protocol for evaluating the management of pulmonary exacerbations in people with cystic fibrosis.

Trials

Schultz, Andre A; McLeod, Charlie C; Berry, Scott S; Marsh, Julie J; McKenzie, Anne A; Messer, Mitch M; Wood, Jamie J; Saville, Ben B; Jaffe, Adam A; Ranganathan, Sarath S; Stick, Steve S; Wark, Peter P; Webb, Steve S; Snelling, Tom T

Publication Date: 2023-03-22

Variant appearance in text: TG: S1235R

PubMed Link: 36949472

Variant Present in the following documents:

• 13063_2023_7076_MOESM2_ESM.pdf

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: TG: Ser1235Arg

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

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Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.

Plos One

Pagin, Adrien A; Devos, Aurore A; Figeac, Martin M; Truant, Maryse M; Willoquaux, Christelle C; Broly, Franck F; Lalau, Guy G

Publication Date: 2016

Variant appearance in text: TG: S1235R

PubMed Link: 26900683

Variant Present in the following documents:

View BVdb publication page

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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg

Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M

Publication Date: 2016-04

Variant appearance in text: TG: S1235R

PubMed Link: 26014425

Variant Present in the following documents:

• ejhg201599a.pdf

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Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

The Journal Of Molecular Diagnostics : Jmd

Audrezet, Marie-Pierre MP; Dabricot, Aurélia A; Le Marechal, Cédric C; Ferec, Claude C

Publication Date: 2008-09

Variant appearance in text: TG: S1235R

PubMed Link: 18687795

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: TG: S1235R

PubMed Link: 17975025

Variant Present in the following documents:

• Main text

View BVdb publication page

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