Lauren Bartik
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View article: Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay Open
Ubiquitin E3 ligases play crucial roles in the DNA damage response (DDR) by modulating the turnover, localization, activation, and interactions of DDR and DNA replication proteins. To gain further insight into how the ubiquitin system regu…
View article: Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy Open
View article: P226: Mosaic autosomal trisomies: A karyotype can still provide the answer in cases of multiple congenital anomalies
P226: Mosaic autosomal trisomies: A karyotype can still provide the answer in cases of multiple congenital anomalies Open
Chromosome anomalies have long been established as a cause of multiple congenital anomalies, as evidenced by the ACMG Practice Guideline advocating for chromosome microarray testing as a first-line evaluation in this cohort. As genetic tes…
View article: P398: A rare report of a child with mosaic trisomy 4
P398: A rare report of a child with mosaic trisomy 4 Open
Trisomy 4 mosaicism is ultrarare in live births with five patients reported in the literature to date. Common features include thumb anomalies, congenital heart defects, developmental delay, intellectual disability, intrauterine growth res…
View article: Insurance denials and diagnostic rates in a pediatric genomic research cohort
Insurance denials and diagnostic rates in a pediatric genomic research cohort Open
View article: P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center
P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center Open
View article: X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems Open
Background SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 have been associate…
View article: Loss of symmetric cell division of apical neural progenitors drives<i>DENND5A</i>-related developmental and epileptic encephalopathy
Loss of symmetric cell division of apical neural progenitors drives<i>DENND5A</i>-related developmental and epileptic encephalopathy Open
Developmental and epileptic encephalopathies (DEEs) are a heterogenous group of epilepsies in which altered brain development leads to developmental delay and seizures, with the epileptic activity further negatively impacting neurodevelopm…
View article: Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes Open
Computational prioritization is efficient for diagnostic SNVs. Thorough identification of non-SNVs remains challenging and is partly mitigated using HiFi-GS sequencing. Importantly, community research is supported by sharing real-time data…
View article: eP080: A rare case of mosaic trisomy 15 with chylothorax
eP080: A rare case of mosaic trisomy 15 with chylothorax Open
View article: IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes
IGenomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes Open
PURPOSE To provide comprehensive diagnostic and candidate analyses in a pediatric rare disease cohort through the Genomic Answers for Kids (GA4K) program. METHODS Extensive analyses of 960 families with suspected genetic disorders includin…
View article: A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome Open