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Unraveling non‐participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
- Published in:
- Journal of Genetic Counseling, 2023, v. 32, n. 5, p. 993, doi. 10.1002/jgc4.1707
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- Publication type:
- Article
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
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- Journal of Genetic Counseling, 2022, v. 31, n. 1, p. 59, doi. 10.1002/jgc4.1451
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- Publication type:
- Article
Men with an FMR1 premutation and their health education needs.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 4, p. 1156, doi. 10.1002/jgc4.1399
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- Publication type:
- Article
INTRODUCTION TO EXPLORING THE EXOME SPECIAL ISSUE.
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- Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 181, doi. 10.1002/jgc4.1113
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- Publication type:
- Article
Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.
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- Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 194, doi. 10.1002/jgc4.1091
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- Publication type:
- Article
Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.
- Published in:
- Journal of Genetic Counseling, 2018, v. 27, n. 5, p. 1087, doi. 10.1007/s10897-018-0228-6
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- Publication type:
- Article
Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
- Published in:
- Journal of Genetic Counseling, 2018, v. 27, n. 4, p. 935, doi. 10.1007/s10897-017-0193-5
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- Publication type:
- Article
A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network.
- Published in:
- 2017
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- Publication type:
- journal article
Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 4, p. 426, doi. 10.1002/ajmg.b.32631
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- Publication type:
- Article
Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.
- Published in:
- 1989
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- Publication type:
- journal article
Mild cystic fibrosis in a consanguineous family.
- Published in:
- 1989
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- Publication type:
- journal article
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2049, doi. 10.1002/ajmg.a.61321
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- Publication type:
- Article
Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.
- Published in:
- 1999
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- Publication type:
- journal article
Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.
- Published in:
- 1998
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- Publication type:
- journal article
Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.
- Published in:
- 1992
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- Publication type:
- journal article
Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02891-3
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- Publication type:
- Article
Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors.
- Published in:
- Journal of Genetic Counseling, 2012, v. 21, n. 6, p. 752, doi. 10.1007/s10897-012-9524-8
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- Publication type:
- Article
Erratum to: Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors.
- Published in:
- 2012
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- Publication type:
- Correction Notice
Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome.
- Published in:
- Journal of Genetic Counseling, 2012, v. 21, n. 1, p. 59, doi. 10.1007/s10897-011-9391-8
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- Publication type:
- Article
Celebrating the 20th Anniversary of the Journal of Genetic Counseling.
- Published in:
- 2012
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- Publication type:
- Editorial
Communication of Genetic Risk Information to Daughters in Families with Fragile X Syndrome: The Parent's Perspective.
- Published in:
- Journal of Genetic Counseling, 2011, v. 20, n. 1, p. 58, doi. 10.1007/s10897-010-9326-9
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- Publication type:
- Article
Socioeconomic Status and Psychological Function in Children with Chromosome 22q11.2 Deletion Syndrome: Implications for Genetic Counseling.
- Published in:
- Journal of Genetic Counseling, 2010, v. 19, n. 5, p. 535, doi. 10.1007/s10897-010-9309-x
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- Publication type:
- Article
Genetic Risk Communication: Experiences of Adolescent Girls and Young Women from Families with Fragile X Syndrome.
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- Journal of Genetic Counseling, 2009, v. 18, n. 4, p. 313, doi. 10.1007/s10897-009-9215-2
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- Publication type:
- Article
Editorial: The JOGC Journey Continues.
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- Journal of Genetic Counseling, 2008, v. 17, n. 1, p. 1, doi. 10.1007/s10897-007-9137-9
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- Publication type:
- Article
Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors.
- Published in:
- Journal of Genetic Counseling, 2005, v. 14, n. 4, p. 249, doi. 10.1007/s10897-005-4802-x
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- Publication type:
- Article
Editorial Notes.
- Published in:
- Journal of Genetic Counseling, 2004, v. 13, n. 3, p. 179, doi. 10.1023/B:JOGC.0000028251.02528.9c
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- Publication type:
- Article
Family Matters: A Conceptual Framework for Genetic Testing in Children.
- Published in:
- Journal of Genetic Counseling, 2004, v. 13, n. 1, p. 9, doi. 10.1023/B:JOGC.0000013379.90587.ef
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- Publication type:
- Article
Editorial Notes.
- Published in:
- 2003
- By:
- Publication type:
- Editorial
Editorial.
- Published in:
- 2002
- By:
- Publication type:
- Editorial
Instructions to Contributors.
- Published in:
- Journal of Genetic Counseling, 2002, v. 11, n. 2, p. 149, doi. 10.1023/A:1014549622661
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- Publication type:
- Article
Editorial Introduction.
- Published in:
- 2002
- By:
- Publication type:
- Editorial
Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors.
- Published in:
- Journal of Genetic Counseling, 2000, v. 9, n. 4, p. 303, doi. 10.1023/A:1009454112907
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- Publication type:
- Article
Threat to Parental Role: A Possible Mechanism of Altered Self-Concept Related to Carrier Knowledge.
- Published in:
- Journal of Genetic Counseling, 2000, v. 9, n. 4, p. 285, doi. 10.1023/A:1009428328837
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- Publication type:
- Article
Genetic Counseling—Stress, Coping, and the Empowerment Perspective.
- Published in:
- Journal of Genetic Counseling, 1999, v. 8, n. 6, p. 345, doi. 10.1023/A:1022919325772
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- Publication type:
- Article
High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations.
- Published in:
- 2023
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- Publication type:
- Case Study
The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 1, p. 62, doi. 10.1111/cge.14437
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- Publication type:
- Article
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 6, p. 521, doi. 10.1111/cge.13635
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- Publication type:
- Article
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 14, p. 2454, doi. 10.1093/hmg/ddy146
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- Publication type:
- Article
Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 3, p. 1, doi. 10.1101/mcs.a006081
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- Article
Characteristics of undiagnosed diseases network applicants: implications for referring providers.
- Published in:
- 2018
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- Publication type:
- journal article
Germline AGO2 mutations impair RNA interference and human neurological development.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19572-5
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- Publication type:
- Article