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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2021-11, Vol.23 (11), p.2029-2037

2021

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Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model

American journal of human genetics, 2020-11, Vol.107 (5), p.911-931

2020

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Variant graph craft (VGC): a comprehensive tool for analyzing genetic variation and identifying disease-causing variants

BMC bioinformatics, 2024-09, Vol.25 (1), p.288-14, Article 288

2024

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Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes

Transfusion (Philadelphia, Pa.), 2023-05, Vol.63 (5), p.1092-1099

2023

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Authors’ response to: “Alexander disease genetics: Beyond GFAP exon sequencing?”

Journal of neuropathology and experimental neurology, 2023-12, Vol.83 (1), p.67-68

2023

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An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome

Scientific reports, 2016-09, Vol.6 (1), p.32353-32353, Article 32353

2016

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Pathologic Alexander Disease with Normal GFAP Sequencing: An Autopsy Case Report and Literature Review

Journal of neuropathology and experimental neurology, 2022-12, Vol.81 (12), p.1033-1036

2022

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The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-03, Vol.25 (3), p.100342-100342, Article 100342

2023

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Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome

Human genetics, 2014-09, Vol.133 (9), p.1075-1082

2014

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Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus

Case reports in endocrinology, 2020, Vol.2020 (2020), p.1-3

2020

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Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant

Case reports in endocrinology, 2021, Vol.2021, p.5571524-6

2021

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P836: A framework and implementation of the Association of Professors of Human and Medical Genetics updated core competencies for medical school

Genetics in Medicine Open, 2024, Vol.2, p.101747, Article 101747

2024

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Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements

Journal of child neurology, 2021-02, Vol.36 (2), p.93-98

2021

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Inherited and de novo variants extend the etiology of TAOK1 -associated neurodevelopmental disorder

Cold Spring Harbor molecular case studies, 2022-02, Vol.8 (2), p.mcs.a006180

2022

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Racial disparities in genetic testing in children with pediatric epilepsy (P3-9.012)

Neurology, 2023-04, Vol.100 (17_supplement_2)

2023

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Comparison of extraction techniques for amniotic fluid supernatant demonstrates improved yield of cell-free fetal RNA

Prenatal diagnosis, 2011-06, Vol.31 (6), p.598-599

2011

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Proof of Concept Study to Assess Fetal Gene Expression in Amniotic Fluid by NanoArray PCR

The Journal of molecular diagnostics : JMD, 2011-09, Vol.13 (5), p.565-570

2011

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Endothelial cell–astrocyte interactions and TGFβ are required for induction of blood–neural barrier properties

Brain research. Developmental brain research, 2004-08, Vol.152 (1), p.25-38

2004

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Inflammatory Arthritis in a 19-month-old with Von Hippel-Lindau Disease

Rhode Island medical journal (2013), 2023-06, Vol.106 (5), p.30-33

2023

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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

JAMA neurology, 2022-12, Vol.79 (12), p.1267

2022

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Management impact of preoperative germline genetic testing in patients with breast cancer at the Lifespan Cancer Institute

Journal of clinical oncology, 2021-05, Vol.39 (15_suppl), p.10523-10523

2021

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Current Indications for Consideration of Evaluation for Hereditary Cancer Predisposition Syndromes and How They Can Change Management

Rhode Island medical journal (2013), 2020-04, Vol.103 (3), p.20-24

2020

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De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

American journal of human genetics, 2020-07, Vol.107 (1), p.164-172

2020

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De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

American journal of human genetics, 2024-04, Vol.111 (4), p.778-790

2024

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Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model

Variant graph craft (VGC): a comprehensive tool for analyzing genetic variation and identifying disease-causing variants

Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes

Authors’ response to: “Alexander disease genetics: Beyond GFAP exon sequencing?”

An Integrated Human/Murine Transcriptome and Pathway Approach To Identify Prenatal Treatments For Down Syndrome

2022 Association of Professors of Human and Medical Genetics (APHMG) consensus–based update of the core competencies for undergraduate medical education in genetics and genomics

Pathologic Alexander Disease with Normal GFAP Sequencing: An Autopsy Case Report and Literature Review

The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome

Severe Dental Disease as a Presenting Sign of Relapsed 6q24-Related Transient Neonatal Diabetes Mellitus

Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant

P836: A framework and implementation of the Association of Professors of Human and Medical Genetics updated core competencies for medical school

Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements

Inherited and de novo variants extend the etiology of TAOK1 -associated neurodevelopmental disorder

Racial disparities in genetic testing in children with pediatric epilepsy (P3-9.012)

Comparison of extraction techniques for amniotic fluid supernatant demonstrates improved yield of cell-free fetal RNA

Proof of Concept Study to Assess Fetal Gene Expression in Amniotic Fluid by NanoArray PCR

Endothelial cell–astrocyte interactions and TGFβ are required for induction of blood–neural barrier properties

Inflammatory Arthritis in a 19-month-old with Von Hippel-Lindau Disease

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Management impact of preoperative germline genetic testing in patients with breast cancer at the Lifespan Cancer Institute

Current Indications for Consideration of Evaluation for Hereditary Cancer Predisposition Syndromes and How They Can Change Management

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

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