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The Krabbe Conundrum—How Are Benefits and Harms Weighed to Determine the Net Benefit of Screening?

JAMA pediatrics, 2023-10, Vol.177 (10), p.995

Bailey, Donald B.

2023

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Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey

American journal of medical genetics. Part A, 2008-08, Vol.146A (16), p.2060-2069

2008

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Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay

Journal of developmental and behavioral pediatrics, 2023-06, Vol.44 (5), p.e379-e387

2023

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No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey

Pediatrics (Evanston), 2009-08, Vol.124 (2), p.527-533

2009

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A Window of Opportunity for Newborn Screening

Molecular diagnosis & therapy, 2022-05, Vol.26 (3), p.253-261

Bailey Jr, Donald B.

2022

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Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation

Pediatrics (Evanston), 2021-05, Vol.147 (5), p.1

2021

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Preparing newborn screening for the future: a collaborative stakeholder engagement exploring challenges and opportunities to modernizing the newborn screening system

BMC pediatrics, 2022-02, Vol.22 (1), p.90-90, Article 90

2022

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Fragile X syndrome

Nature reviews. Disease primers, 2017-09, Vol.3 (1), p.17065-17065, Article 17065

2017

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Infant Development in Fragile X Syndrome: Cross-Syndrome Comparisons

Journal of autism and developmental disorders, 2016-06, Vol.46 (6), p.2088-2099

2016

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A behavior-theoretic evaluation of values clarification on parental beliefs and intentions toward genomic sequencing for newborns

Social science & medicine (1982), 2021-02, Vol.271, p.112037-112037, Article 112037

2021

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Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome

Journal of autism and developmental disorders, 2020-05, Vol.50 (5), p.1725-1747

2020

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Skills attained by infants with congenital Zika syndrome: Pilot data from Brazil

PloS one, 2018-07, Vol.13 (7), p.e0201495-e0201495

2018

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Newborn screening: evolving challenges in an era of rapid discovery

JAMA : the journal of the American Medical Association, 2015-04, Vol.313 (15), p.1511

2015

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Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome

American journal of medical genetics. Part A, 2014-01, Vol.164A (1), p.141-155

2014

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Mood and anxiety disorders in females with the FMR1 premutation

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2009-01, Vol.150B (1), p.130-139

2009

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Supporting informed clinical trial decisions: Results from a randomized controlled trial evaluating a digital decision support tool for those with intellectual disability

PloS one, 2019-10, Vol.14 (10), p.e0223801

2019

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Associated features in females with an FMR1 premutation

Journal of neurodevelopmental disorders, 2014-07, Vol.6 (1), p.30-30, Article 30

2014

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Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP

American journal of medical genetics. Part A, 2006-09, Vol.140A (17), p.1804-1813

2006

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Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues

Pediatrics (Evanston), 2008-03, Vol.121 (3), p.e693-e704

2008

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Thirty-six-month outcomes for families of children who have disabilities and participated in early intervention

Pediatrics (Evanston), 2005-12, Vol.116 (6), p.1346-1352

2005

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Parents' decisions to screen newborns for FMR1 gene expansions in a pilot research project

Pediatrics (Evanston), 2011-06, Vol.127 (6), p.e1455-e1463

2011

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Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study

Frontiers in genetics, 2022-05, Vol.13, p.891592-891592

2022

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Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening

Pediatrics (Evanston), 2015-08, Vol.136 (2), p.e433-e440

2015

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Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol

Trials, 2018-06, Vol.19 (1), p.344-344, Article 344

2018

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The Krabbe Conundrum—How Are Benefits and Harms Weighed to Determine the Net Benefit of Screening?

Co-occurring conditions associated with FMR1 gene variations: Findings from a national parent survey

Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay

No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey

A Window of Opportunity for Newborn Screening

Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation

Preparing newborn screening for the future: a collaborative stakeholder engagement exploring challenges and opportunities to modernizing the newborn screening system

Fragile X syndrome

Infant Development in Fragile X Syndrome: Cross-Syndrome Comparisons

A behavior-theoretic evaluation of values clarification on parental beliefs and intentions toward genomic sequencing for newborns

Decisional Capacity for Informed Consent in Males and Females with Fragile X Syndrome

Skills attained by infants with congenital Zika syndrome: Pilot data from Brazil

Newborn screening: evolving challenges in an era of rapid discovery

Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome

Mood and anxiety disorders in females with the FMR1 premutation

Supporting informed clinical trial decisions: Results from a randomized controlled trial evaluating a digital decision support tool for those with intellectual disability

Associated features in females with an FMR1 premutation

Newborn Sequencing in Genomic Medicine and Public Health

Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP

Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues

Thirty-six-month outcomes for families of children who have disabilities and participated in early intervention

Parents' decisions to screen newborns for FMR1 gene expansions in a pilot research project

Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study

Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening

Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol

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