Shivarajan Amudhavalli
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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: 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: P594: A 3.9 Mb triplication within 11p14.1p13 containing ELP4 and PAX6 in a patient with congenital nystagmus and mild speech delay
P594: A 3.9 Mb triplication within 11p14.1p13 containing ELP4 and PAX6 in a patient with congenital nystagmus and mild speech delay Open
View article: P152: TCOF1-related Treacher Collins syndrome: Report of a clinically unaffected parent with mosaicism
P152: TCOF1-related Treacher Collins syndrome: Report of a clinically unaffected parent with mosaicism Open
View article: P551: GATEways to improved test utilization: Opening doors and building bridges
P551: GATEways to improved test utilization: Opening doors and building bridges 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: 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: <scp> <i>TAB2</i> </scp> variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay
<span> <i>TAB2</i> </span> variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay Open
Congenital heart defects (CHD) are the most commonly occurring birth defect and can occur in isolation or with additional clinical features comprising a genetic syndrome. Autosomal dominant variants in TAB2 are recognized by the American H…
View article: Author response for "TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay"
Author response for "TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay" 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: Heterozygous variants in <scp><i>ZBTB7A</i></scp> cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin
Heterozygous variants in <span><i>ZBTB7A</i></span> cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin Open
By clinical whole exome sequencing, we identified 12 individuals with ages 3 to 37 years, including three individuals from the same family, with a consistent phenotype of intellectual disability (ID), macrocephaly, and overgrowth of adenoi…
View article: Author response for "TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay"
Author response for "TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay" Open
View article: Author response for "Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly"
Author response for "Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly" Open
View article: Syndromic neurodevelopmental disorder associated with de novo variants in <scp><i>DDX23</i></scp>
Syndromic neurodevelopmental disorder associated with de novo variants in <span><i>DDX23</i></span> Open
The DEAD/DEAH box RNA helicases are a superfamily of proteins involved in the processing and transportation of RNA within the cell. A growing literature supports this family of proteins as contributing to various types of human disorders f…
View article: Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Open
View article: Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Open
Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that dif…
View article: Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation Open
Background KMT2B -related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without deta…
View article: Additional file 7 of Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation
Additional file 7 of Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation Open
Additional file 7: Phenotype and Genotype of Previously Reported KMT2B Mutation Carriers and Patients Described in This Report. F-Female; M-Male.
View article: Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes Open
View article: Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings
Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings Open
View article: Histopathological study of lung in autopsy cases: a prospective study
Histopathological study of lung in autopsy cases: a prospective study Open
Background: Present days the air pollution and other environmental inhalants, chemical cum toxic substances become uncontrollable. The lungs are involved in a number of infectious, inflammatory and occupational diseases. But involved in al…