Megan T. Cho
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View article: Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder Open
View article: Measuring quality and value in genetic counseling: The current landscape and future directions
Measuring quality and value in genetic counseling: The current landscape and future directions Open
Genetic counselors strive to provide high‐quality genetic services. To do so, it is essential to define quality in genetic counseling and identify opportunities for improvement. This Professional Issues article provides an overview of the …
View article: NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain Open
View article: Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis Open
View article: NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain
NRF1 Association with AUTS2-Polycomb Mediates Specific Gene Activation in the Brain Open
SUMMARY The heterogeneous complexes comprising the family of Polycomb Repressive Complex 1 (PRC1) are instrumental to establishing facultative heterochromatin that is repressive to transcription. Yet, two PRC1 species, PRC1.3 and PRC1.5, a…
View article: Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients Open
Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome.
View article: Advancing the genetic counseling profession through research: Identification of priorities by the National Society of Genetic Counselors research task force
Advancing the genetic counseling profession through research: Identification of priorities by the National Society of Genetic Counselors research task force Open
To help advance research critical to the achievement of the National Society of Genetic Counselors’ (NSGC) strategic objectives, coordination and prioritization of society resources are needed. NSGC convened a task force to advance researc…
View article: Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing Open
Leukodystrophies are a heterogeneous group of heritable disorders characterized by abnormal brain white matter signal on magnetic resonance imaging (MRI) and primary involvement of the cellular components of myelin. Previous estimates sugg…
View article: 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 Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay Open
View article: Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 Open
View article: Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome Open
View article: A qualitative study of Latinx parents' experiences of clinical exome sequencing
A qualitative study of Latinx parents' experiences of clinical exome sequencing Open
Clinical exome sequencing (CES) is an established method for genetic diagnosis and is used widely in clinical practice. Studies of the parental experience of CES, which inform guidelines for best practices for genetic counseling, have been…
View article: Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer Open
Two lysine acyltransferases govern histone H3 propionylation at lysine 23 in normal and pathological conditions.
View article: Characterization of<i>SETD1A</i>haploinsufficiency in humans and<i>Drosophila</i>defines a novel neurodevelopmental syndrome
Characterization of<i>SETD1A</i>haploinsufficiency in humans and<i>Drosophila</i>defines a novel neurodevelopmental syndrome Open
Defects in histone methyltransferases (HMTs) are major contributing factors in neurodevelopmental disorders (NDDs). Heterozygous variants of SETD1A involved in histone H3 lysine 4 (H3K4) methylation were previously identified in individual…
View article: Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability Open
Epigenetic integrity is critical for many eukaryotic cellular processes. An important question is how different epigenetic regulators control development and influence disease. Lysine acetyltransferase 8 (KAT8) is critical for acetylation …
View article: MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Open
MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals with variable…
View article: Evolving Roles of Genetic Counselors in the Clinical Laboratory
Evolving Roles of Genetic Counselors in the Clinical Laboratory Open
Genetic counselors (GCs) possess several core competencies that provide direct benefit in the clinical laboratory setting. Communication with clients about complex information such as test methodology or results and the skills of facilitat…
View article: Redefining the Etiologic Landscape of Cerebellar Malformations
Redefining the Etiologic Landscape of Cerebellar Malformations Open
View article: Impact of patient education videos on genetic counseling outcomes after exome sequencing
Impact of patient education videos on genetic counseling outcomes after exome sequencing Open
View article: AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Open
View article: Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size Open
The underpinnings of mild to moderate neurodevelopmental delay remain elusive, often leading to late diagnosis and interventions. Here, we present data on exome and genome sequencing as well as array analysis of 13 individuals that point t…
View article: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome Open
View article: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome Open
View article: De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment Open
View article: Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures Open
View article: De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies Open
View article: Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay Open
View article: PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights Open
Biallelic pathogenic variants in PLPBP (formerly called PROSC) have recently been shown to cause a novel form of vitamin B6-dependent epilepsy, the pathophysiological basis of which is poorly understood. When left untreated, the disease ca…
View article: NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly Open
View article: Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Open
The original version of this Article contained an error in the spelling of the author J. Lawrence Merritt, which was incorrectly given as Lawrence Merritt. This has now been corrected in both the PDF and HTML versions of the Article.