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Parental coping with uncertainties along the severe combined immunodeficiency journey

Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.1-390, Article 390

2022

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Severe Combined Immunodeficiency: Knowledge and Information Needs Among Healthcare Providers

Frontiers in pediatrics, 2022-02, Vol.10, p.804709-804709

2022

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Information and Emotional Support Needs of Families Whose Infant Was Diagnosed With SCID Through Newborn Screening

Frontiers in immunology, 2020-05, Vol.11, p.885-885

2020

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Seizures in Fragile X Syndrome: Characteristics and Comorbid Diagnoses

American journal on intellectual and developmental disabilities, 2010-11, Vol.115 (6), p.461

2010

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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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Sensory Difficulties in Children With an FMR1 Premutation

Frontiers in genetics, 2018-08, Vol.9, p.351-351

2018

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Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Cells (Basel, Switzerland), 2023-09, Vol.12 (18), p.2330

2023

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Early Check: translational science at the intersection of public health and newborn screening

BMC pediatrics, 2019-07, Vol.19 (1), p.238-238, Article 238

2019

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Self-Injurious Behavior and Fragile X Syndrome: Findings from the National Fragile X Survey

American journal on intellectual and developmental disabilities, 2010-11, Vol.115 (6), p.473

2010

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P395: Assessing the collaborative relationships among diverse stakeholders working to expand access to genetic services in Puerto Rico

Genetics in Medicine Open, 2023, Vol.1 (1), p.100431, Article 100431

2023

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Outreach to new mothers through direct mail and email: recruitment in the Early Check research study

Clinical and translational science, 2021-05, Vol.14 (3), p.880-889

2021

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Caregiver opinions about fragile X population screening

Genetics in medicine, 2012-01, Vol.14 (1), p.115-121

2012

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Early Identification of Fragile X Syndrome through Expanded Newborn Screening

Brain sciences, 2019-01, Vol.9 (1), p.4

2019

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A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check

International journal of neonatal screening, 2021-03, Vol.7 (1), p.20

2021

Volltextzugriff (PDF)

Public Health Literature Review of Fragile X Syndrome

Pediatrics (Evanston), 2017-06, Vol.139 (Suppl 3), p.S153

2017

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Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families

Pediatrics (Evanston), 2017-06, Vol.139 (Suppl 3), p.S172

2017

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Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review

Interactive journal of medical research, 2021-02, Vol.10 (1), p.e23523-e23523

2021

Volltextzugriff (PDF)

Research Gaps in Fragile X Syndrome: An Updated Literature Review to Inform Clinical and Public Health Practice

Journal of developmental and behavioral pediatrics, 2023-01, Vol.44 (1), p.e56

2023

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Development and Psychometric Validation of the Family Outcomes Survey-Revised

Journal of early intervention, 2011-03, Vol.33 (1), p.6-23

2011

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Clinical models of telehealth in genetics: A regional telegenetics landscape

Journal of genetic counseling, 2019-06, Vol.28 (3), p.673-691

2019

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Evaluating Sensory Processing in Fragile X Syndrome: Psychometric Analysis of the Brain Body Center Sensory Scales (BBCSS)

Journal of autism and developmental disorders, 2018-06, Vol.48 (6), p.2187-2202

2018

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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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Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening

European journal of human genetics : EJHG, 2024-04, Vol.32 (4), p.392-398

2024

Volltextzugriff (PDF)

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

2009

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Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)

Journal of autism and developmental disorders, 2024-03

2024

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Parental coping with uncertainties along the severe combined immunodeficiency journey

Severe Combined Immunodeficiency: Knowledge and Information Needs Among Healthcare Providers

Information and Emotional Support Needs of Families Whose Infant Was Diagnosed With SCID Through Newborn Screening

Seizures in Fragile X Syndrome: Characteristics and Comorbid Diagnoses

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

Sensory Difficulties in Children With an FMR1 Premutation

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

Early Check: translational science at the intersection of public health and newborn screening

Self-Injurious Behavior and Fragile X Syndrome: Findings from the National Fragile X Survey

P395: Assessing the collaborative relationships among diverse stakeholders working to expand access to genetic services in Puerto Rico

Outreach to new mothers through direct mail and email: recruitment in the Early Check research study

Caregiver opinions about fragile X population screening

Early Identification of Fragile X Syndrome through Expanded Newborn Screening

A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check

Public Health Literature Review of Fragile X Syndrome

Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families

Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review

Research Gaps in Fragile X Syndrome: An Updated Literature Review to Inform Clinical and Public Health Practice

Development and Psychometric Validation of the Family Outcomes Survey-Revised

Clinical models of telehealth in genetics: A regional telegenetics landscape

Evaluating Sensory Processing in Fragile X Syndrome: Psychometric Analysis of the Brain Body Center Sensory Scales (BBCSS)

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

Uncertainties experienced by parents of children diagnosed with severe combined immunodeficiency through newborn screening

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

Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)

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