Matthew B. Neu
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View article: GREGoR: accelerating genomics for rare diseases
GREGoR: accelerating genomics for rare diseases Open
View article: P787: Unbalanced three-way translocation identified in a patient with developmental delay using chromosomal microarray analysis and karyotyping
P787: Unbalanced three-way translocation identified in a patient with developmental delay using chromosomal microarray analysis and karyotyping Open
View article: Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit Open
Background: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents’ experiences with GS as a first-line diagnostic tool for infants wit…
View article: eP425: Parental impact of genome sequencing during the neonatal period
eP425: Parental impact of genome sequencing during the neonatal period Open
View article: Genome sequencing as a first-line diagnostic test for hospitalized infants
Genome sequencing as a first-line diagnostic test for hospitalized infants Open
View article: Genome sequencing as a first-line diagnostic test for hospitalized newborns
Genome sequencing as a first-line diagnostic test for hospitalized newborns Open
Purpose SouthSeq, a translational research study to perform genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder, was conducted in NICUs in the Southeastern US. Recruitment targeted racial/ethnic minorities and…
View article: Clinical utility of genomic sequencing
Clinical utility of genomic sequencing Open
Purpose of review Identifying pathogenic variation underlying pediatric developmental disease is critical for medical management, therapeutic development, and family planning. This review summarizes current genetic testing options along wi…
View article: De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay Open
Mutations that alter signaling of RAS/MAPK-family proteins give rise to a group of Mendelian diseases known as RASopathies. However, among RASopathies, the matrix of genotype-phenotype relationships is still incomplete, in part because the…
View article: <i>De novo</i>mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
<i>De novo</i>mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay Open
Mutations that alter signaling of RAS/MAPK-family proteins give rise to a group of Mendelian diseases known as RASopathies, but the matrix of genotype-phenotype relationships is still incomplete, in part because there are many RAS-related …
View article: 2443 Attitudes and preferences for return of results from next-generation sequencing
2443 Attitudes and preferences for return of results from next-generation sequencing Open
OBJECTIVES/SPECIFIC AIMS: Objectives: Decreasing costs and increasing evidence for clinical utility have contributed to whole genome sequencing (WGS) becoming a clinical reality. While previous studies have surveyed the attitudes of patien…
View article: Genomic sequencing identifies secondary findings in a cohort of parent study participants
Genomic sequencing identifies secondary findings in a cohort of parent study participants Open
View article: CUILESS2016: a clinical corpus applying compositional normalization of text mentions
CUILESS2016: a clinical corpus applying compositional normalization of text mentions Open
View article: Genomic sequencing identifies secondary findings in a cohort of parent study participants
Genomic sequencing identifies secondary findings in a cohort of parent study participants Open
PURPOSE Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability. METHODS Exome/genome sequencing and analysis of 789 ‘unaffected’ parents was performed. R…
View article: 2181
2181 Open
OBJECTIVES/SPECIFIC AIMS: Although the clinical utility of whole genome sequencing (WGS) is increasing, a gap exists between what WGS can deliver in quantity of genomic information and what results can be interpreted that patients and comm…
View article: <scp><i>TPM</i></scp><i>3</i> deletions cause a hypercontractile congenital muscle stiffness phenotype
<span><i>TPM</i></span><i>3</i> deletions cause a hypercontractile congenital muscle stiffness phenotype Open
Objective Mutations in TPM3 , encoding Tpm3.12, cause a clinically and histopathologically diverse group of myopathies characterized by muscle weakness. We report two patients with novel de novo Tpm3.12 single glutamic acid deletions at po…