[HTML][HTML] Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

MC Bonaglia, R Giorda, S Beri, C De Agostini… - PLoS …, 2011 - journals.plos.org
In this study, we used deletions at 22q13, which represent a substantial source of human
pathology (Phelan/McDermid syndrome), as a model for investigating the molecular …

C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients

GWE Santen, E Aten, AT Vulto‐van Silfhout… - Human …, 2013 - Wiley Online Library
De novo germline variants in several components of the SWI/SNF‐like BAF complex can
cause C offin–S iris syndrome (CSS), N icolaides–B araitser syndrome (NCBRS), and …

Diagnostic targeted resequencing in 349 patients with drug‐resistant pediatric epilepsies identifies causative mutations in 30 different genes

E Parrini, C Marini, D Mei, A Galuppi, E Cellini… - Human …, 2017 - Wiley Online Library
Targeted resequencing gene panels are used in the diagnostic setting to identify gene
defects in epilepsy. We performed targeted resequencing using a 30‐genes panel and a 95 …

[HTML][HTML] Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

I Ivanovski, O Djuric, SG Caraffi, D Santodirocco… - Genetics in …, 2018 - nature.com
Purpose Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital
anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally …

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

MC Aspromonte, M Bellini, A Gasparini… - Human …, 2019 - Wiley Online Library
Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically
heterogeneous diseases. Recent whole exome sequencing studies indicated that genes …

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

A Vetro, HN Nielsen, R Holm, RF Hevner, E Parrini… - Brain, 2021 - academic.oup.com
Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct
isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial …

[HTML][HTML] Illness severity, social and cognitive ability, and EEG analysis of ten patients with Rett syndrome treated with mecasermin (recombinant human IGF-1)

G Pini, L Congiu, A Benincasa, P DiMarco… - Autism Research and …, 2016 - hindawi.com
Rett Syndrome (RTT) is a severe neurodevelopmental disorder characterized by an
apparently normal development followed by an arrest and subsequent regression of …

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

KM Johannesen, E Gardella, CE Gjerulfsen… - Neurology …, 2021 - AAN Enterprises
Background and Objectives Purine-rich element-binding protein A (PURA) gene encodes
Pur-α, a conserved protein essential for normal postnatal brain development. Recently, a …

[HTML][HTML] Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

MA Cousin, EL Veale, NR Dsouza, S Tripathi… - Genome medicine, 2022 - Springer
Background Genomics enables individualized diagnosis and treatment, but large
challenges remain to functionally interpret rare variants. To date, only one causative variant …

[HTML][HTML] Genome sequencing in families with congenital limb malformations

J Elsner, MA Mensah, M Holtgrewe, J Hertzberg… - Human Genetics, 2021 - Springer
The extensive clinical and genetic heterogeneity of congenital limb malformation calls for
comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has …