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A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1576-1580

2023

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Functional evaluation of the C-terminal region of bacteriophage T4 Rad50

Biochemical and biophysical research communications, 2020-05, Vol.526 (2), p.485-490

2020

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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Nature communications, 2020-05, Vol.11 (1), p.2441-2441, Article 2441

2020

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A familial deletion of 10p12.1 associated with thrombocytopenia

American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.77-81

2024

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Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders

Scientific reports, 2021-03, Vol.11 (1), p.6602-6602, Article 6602

2021

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Novel phenotype of aortic root dilatation and late‐onset metabolic decompensation in a patient with TMEM70 deficiency

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1366-1372

2023

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Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics

Genetics in medicine, 2021-05, Vol.23 (5), p.950-955

2021

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Perceived impact of ethnocultural competency training on genetic counselors' clinical interactions

Journal of genetic counseling, 2024-06, Vol.33 (3), p.605-614

2024

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P211: Review of genomic test orders for pediatric inpatients receiving exome and genome sequencing

Genetics in Medicine Open, 2024, Vol.2, p.101108, Article 101108

2024

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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

American journal of human genetics, 2017-10, Vol.101 (4), p.503-515

2017

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The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter

American journal of medical genetics. Part A, 2018-07, Vol.176 (7), p.1667-1669

2018

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A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.674-678

2020

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Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma

The Cleft palate-craniofacial journal, 2019-07, Vol.56 (6), p.823-826

2019

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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

Human mutation, 2020-05, Vol.41 (5), p.921-925

2020

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Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures

American journal of medical genetics. Part A, 2019-10, Vol.179 (10), p.2138-2143

2019

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Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis

The Journal of craniofacial surgery, 2020-07, Vol.31 (5), p.e471-e475

2020

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P130: Case report: Phenotypic features among four first-degree relatives with 17q11.2 microduplication syndrome

Genetics in Medicine Open, 2023, Vol.1 (1), p.100159, Article 100159

2023

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P564: Genetic test stewardship for clinical exome sequencing: Review of critical care orders at Texas Children’s Hospital

Genetics in Medicine Open, 2023, Vol.1 (1), p.100611, Article 100611

2023

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OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

Frontiers in cell and developmental biology, 2021-03, Vol.9, p.631428-631428

2021

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eP025: Novel phenotype of aortic root dilatation and late onset of metabolic decompensation in patient with TMEM70 deficiency

Genetics in medicine, 2022-03, Vol.24 (3), p.S17-S17

2022

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Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories

Genetics in medicine, 2023-05, Vol.25 (5), p.100818-100818, Article 100818

2023

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eP517: Differences in genetic testing uptake in a large metropolitan pediatric outpatient genetics clinic over time

Genetics in medicine, 2022-03, Vol.24 (3), p.S330-S330

2022

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A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome

Functional evaluation of the C-terminal region of bacteriophage T4 Rad50

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

A familial deletion of 10p12.1 associated with thrombocytopenia

Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders

Novel phenotype of aortic root dilatation and late‐onset metabolic decompensation in a patient with TMEM70 deficiency

Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics

Perceived impact of ethnocultural competency training on genetic counselors' clinical interactions

P211: Review of genomic test orders for pediatric inpatients receiving exome and genome sequencing

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures

Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis

P130: Case report: Phenotypic features among four first-degree relatives with 17q11.2 microduplication syndrome

P564: Genetic test stewardship for clinical exome sequencing: Review of critical care orders at Texas Children’s Hospital

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

eP025: Novel phenotype of aortic root dilatation and late onset of metabolic decompensation in patient with TMEM70 deficiency

Cascade testing after exome sequencing: Retrospective analysis of linked family data at 2 US laboratories

eP517: Differences in genetic testing uptake in a large metropolitan pediatric outpatient genetics clinic over time

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