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Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2018-06, Vol.177 (4), p.426-433

2018

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Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

Journal of genetic counseling, 2023-10, Vol.32 (5), p.993-1008

2023

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Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Genetics in medicine, 2020-07, Vol.22 (7), p.1269-1275

2020

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The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic

Clinical genetics, 2024-01, Vol.105 (1), p.62-71

2024

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Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation

Epileptic disorders, 2020-02, Vol.22 (1), p.103-109

2020

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Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era

Journal of genetic counseling, 2019-04, Vol.28 (2), p.194-201

2019

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Men with an FMR1 premutation and their health education needs

Journal of genetic counseling, 2021-08, Vol.30 (4), p.1156-1167

2021

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INTRODUCTION TO EXPLORING THE EXOME SPECIAL ISSUE

Journal of genetic counseling, 2019-04, Vol.28 (2), p.181-181

2019

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The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

Clinical genetics, 2019-12, Vol.96 (6), p.521-531

2019

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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

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2049-2055

2019

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High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

Clinical case reports, 2023-06, Vol.11 (6), p.e7371-n/a

2023

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The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders

Journal of genetic counseling, 2024-04

2024

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A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.71-71, Article 71

2017

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Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

Journal of genetic counseling, 2018-08, Vol.27 (4), p.935-946

2018

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Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

Orphanet journal of rare diseases, 2023-09, Vol.18 (1), p.1-269, Article 269

2023

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The FMR1 premutation and reproduction

Fertility and sterility, 2007-03, Vol.87 (3), p.456-465

2007

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Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans

Genetics in medicine, 2021-08, Vol.23 (8), p.1514-1521

2021

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Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Human mutation, 2013-06, Vol.34 (6), p.801-811

2013

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Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

Journal of genetic counseling, 2012-12, Vol.21 (6), p.752-760

2012

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Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

Journal of human genetics, 2018-12, Vol.63 (12), p.1211-1222

2018

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P295: Episodic irritability in an ultra-rare genetic disorder associated with NACC1: Imperative to increase awareness and formulate better therapeutic interventions

Genetics in Medicine Open, 2023, Vol.1 (1), p.100323, Article 100323

2023

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Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

Journal of genetic counseling, 2018-09, Vol.27 (5), p.1087-1101

2018

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Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome

Journal of genetic counseling, 2012-02, Vol.21 (1), p.59-71

2012

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Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

Journal of genetic counseling, 2005-08, Vol.14 (4), p.249-270

2005

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Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review

Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic

Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation

Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era

Men with an FMR1 premutation and their health education needs

INTRODUCTION TO EXPLORING THE EXOME SPECIAL ISSUE

The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease

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

High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

The FMR1 premutation and reproduction

Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

P295: Episodic irritability in an ultra-rare genetic disorder associated with NACC1: Imperative to increase awareness and formulate better therapeutic interventions

Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network

Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

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