GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
Background We aimed for a comprehensive delineation of genetic, functional and
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …
Disorders of creatine transport and metabolism
Creatine is a nitrogen containing compound that serves as an energy shuttle between the
mitochondrial sites of ATP production and the cytosol where ATP is utilized. There are two …
mitochondrial sites of ATP production and the cytosol where ATP is utilized. There are two …
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
AR Paciorkowski, RN Traylor, JA Rosenfeld… - neurogenetics, 2013 - Springer
MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder
associated with intellectual disability, autistic features, epilepsy, and abnormal movements …
associated with intellectual disability, autistic features, epilepsy, and abnormal movements …
Limitations of exome sequencing in detecting rare and undiagnosed diseases
KJ Burdick, JD Cogan, LC Rives… - American Journal of …, 2020 - Wiley Online Library
While exome sequencing (ES) is commonly the final diagnostic step in clinical genetics, it
may miss diagnoses. To clarify the limitations of ES, we investigated the diagnostic yield of …
may miss diagnoses. To clarify the limitations of ES, we investigated the diagnostic yield of …
Glutaric acidemia type 1: outcomes before and after expanded newborn screening
K Viau, SL Ernst, RJ Vanzo, LD Botto… - Molecular genetics and …, 2012 - Elsevier
Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine,
and tryptophan metabolism. Patients may present with brain atrophy, macrocephaly, and …
and tryptophan metabolism. Patients may present with brain atrophy, macrocephaly, and …
[HTML][HTML] Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders using an ultra-high resolution chromosomal microarray …
KS Ho, ER Wassman, AL Baxter, CH Hensel… - International journal of …, 2016 - mdpi.com
Copy number variants (CNVs) detected by chromosomal microarray analysis (CMA)
significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and …
significantly contribute to understanding the etiology of autism spectrum disorder (ASD) and …
Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf–Hirschhorn syndrome
KS Ho, ST South, A Lortz, CH Hensel… - Journal of Medical …, 2016 - jmg.bmj.com
Background Wolf–Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome
involving variable size deletions of the 4p16. 3 region. Seizures are frequently, but not …
involving variable size deletions of the 4p16. 3 region. Seizures are frequently, but not …
Variants of unknown significance on chromosomal microarray analysis: parental perspectives
S Jez, M Martin, S South, R Vanzo… - Journal of community …, 2015 - Springer
Chromosomal microarray is the recommended first-tier genetic test when a child presents
with idiopathic developmental delay (DD), intellectual disability (ID), and/or autism spectrum …
with idiopathic developmental delay (DD), intellectual disability (ID), and/or autism spectrum …
[HTML][HTML] Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
A Prasad, MA Sdano, RJ Vanzo… - BMC medical …, 2018 - Springer
Background Chromosomal microarray analysis (CMA) is recommended as the first-tier
clinical diagnostic test for individuals with developmental disabilities. In addition to detecting …
clinical diagnostic test for individuals with developmental disabilities. In addition to detecting …
[HTML][HTML] Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders
Copy number variants (CNV) s involving KANK1 are generally classified as variants of
unknown significance. Several clinical case reports suggest that the loss of KANK1 on …
unknown significance. Several clinical case reports suggest that the loss of KANK1 on …