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Parental support for genomic newborn screening in France: results from a national survey
Oct
23

Parental support for genomic newborn screening in France: results from a national survey

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Laurence Faivre

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Aligning Expert and Public Perspectives on Disease Selection for Genomic Newborn Screening: Insights from the SeDeN Project in France
Oct
23

Aligning Expert and Public Perspectives on Disease Selection for Genomic Newborn Screening: Insights from the SeDeN Project in France

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Laurence Faivre

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Whole-genome sequencing and analysis of newborns admitted to NICU in the State of Paraná, Brazil: preliminary results
Oct
23

Whole-genome sequencing and analysis of newborns admitted to NICU in the State of Paraná, Brazil: preliminary results

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Fabio Passetti & Andreia Suzukawa

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Public and parents perspectives on genomic sequencing in newborn screening: a scoping review
Oct
23

Public and parents perspectives on genomic sequencing in newborn screening: a scoping review

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Saskia G Smits

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Feasibility, acceptability and clinical outcomes of genomic newborn screening in a prospective cohort
Oct
23

Feasibility, acceptability and clinical outcomes of genomic newborn screening in a prospective cohort

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Sebastian Lunke

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Population-based 1st-tier Genomic Newborn Screening Results of BabyDetect Study
Oct
23

Population-based 1st-tier Genomic Newborn Screening Results of BabyDetect Study

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Francois BOEMER

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Uncovering Apparent Incomplete Penetrance of TSC1/TSC2 Variants: Insights from Diverse Population Cohorts
Oct
23

Uncovering Apparent Incomplete Penetrance of TSC1/TSC2 Variants: Insights from Diverse Population Cohorts

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: James Fasham

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A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling
Oct
23

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Mirjam de Pagter

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Empowering Newborn Sequencing with Streamlined High Molecular Weight Genomic DNA Extraction from DBS and Whole Genome Library Preparation using sparQ DBS-seq Workflow
Oct
23

Empowering Newborn Sequencing with Streamlined High Molecular Weight Genomic DNA Extraction from DBS and Whole Genome Library Preparation using sparQ DBS-seq Workflow

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Subrata Panja

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What are the enablers and barriers to implementing the Generation Study in the English National Health Service? Early insights from health professionals
Oct
23

What are the enablers and barriers to implementing the Generation Study in the English National Health Service? Early insights from health professionals

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Melissa Hill

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FirstSteps: The newborn genome screening initiative in Greece
Oct
23

FirstSteps: The newborn genome screening initiative in Greece

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Petros Tsipouras

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Should adult-onset or untreatable conditions be reported in genomic newborn screening programs?
Oct
23

Should adult-onset or untreatable conditions be reported in genomic newborn screening programs?

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Sarah Norris

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PREPARING THE WORKFORCE FOR THE GENOMIC NEWBORN SCREENING ERA: SUGGESTIONS FROM MIDWIVES AND NURSES
Oct
23

PREPARING THE WORKFORCE FOR THE GENOMIC NEWBORN SCREENING ERA: SUGGESTIONS FROM MIDWIVES AND NURSES

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Jessica Lu

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Implementation of a National Pilot Program for Genetic Newborn Screening
Oct
23

Implementation of a National Pilot Program for Genetic Newborn Screening

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Bruno Kotska Rodiño-Janeiro

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Advancing National Genomic Initiatives: Abu Dhabi’s Model for Newborn Genetic Screening and Lifelong Precision Medicine
Oct
23

Advancing National Genomic Initiatives: Abu Dhabi’s Model for Newborn Genetic Screening and Lifelong Precision Medicine

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Mohamed Al Ameri

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BeginNGS: Innovating on interpretation, enrollment, and results return in an ongoing single arm prospective newborn sequencing by genome sequencing trial.
Oct
23

BeginNGS: Innovating on interpretation, enrollment, and results return in an ongoing single arm prospective newborn sequencing by genome sequencing trial.

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Rebecca Reimers

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Pilot Study of Genome-Based Newborn Screening in South Korea
Oct
23

Pilot Study of Genome-Based Newborn Screening in South Korea

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: BEOMHEE LEE

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WES in Newborn Screening: early results from the OMNISAFE Project
Oct
23

WES in Newborn Screening: early results from the OMNISAFE Project

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Clarissa Berardo

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Whole-genome sequencing of newborns: Parental perspectives in South Korea
Oct
23

Whole-genome sequencing of newborns: Parental perspectives in South Korea

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Wonhoo Yoo

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Reimagining a role for ICoNS in international gNBS policy
Oct
23

Reimagining a role for ICoNS in international gNBS policy

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Kate MacDuffie

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Bridging the gap to gNBS: Genomics in Norway's routine Newborn Screening
Oct
23

Bridging the gap to gNBS: Genomics in Norway's routine Newborn Screening

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Alexander D Rowe

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Considerations for a Patient Focused Advocacy on Genetic Newborn Screening
Oct
23

Considerations for a Patient Focused Advocacy on Genetic Newborn Screening

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Gulcin Gumus

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CLOUD-BASED BIOINFORMATICS WORKFLOW FOR NEWBORN SCREENING USING WHOLE GENOME SEQUENCING
Oct
23

CLOUD-BASED BIOINFORMATICS WORKFLOW FOR NEWBORN SCREENING USING WHOLE GENOME SEQUENCING

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Yong Kiat Wee

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Implementing WGS-based newborn screening in South Korea: Expert insights on challenges and opportunities
Oct
23

Implementing WGS-based newborn screening in South Korea: Expert insights on challenges and opportunities

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Junghyun Lee

📊 Source

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Variant detection using an optimized sample-to-result workflow for blood spot sequencing
Oct
23

Variant detection using an optimized sample-to-result workflow for blood spot sequencing

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Keerthana Krishnan

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ASL deficiency: pervasive genetic interactions between active site alleles restore near wildtype function
Oct
23

ASL deficiency: pervasive genetic interactions between active site alleles restore near wildtype function

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Aimee Dudley

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Causes of neonatal mortality in the European Region: Implications for genomic newborn screening
Oct
23

Causes of neonatal mortality in the European Region: Implications for genomic newborn screening

  • Thursday, October 23, 2025
  • 5:00 PM 6:30 PM
  • Google Calendar ICS

Presenting Author: Paula L. Hedley

📊 Source

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