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Author Details

Elliott H Sherr
1987
147
49
PMIDPaper TitleJournal TitlePublished Year
37422363The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.Trends Mol Med2023
37857482Loss-of-function variants in cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.2023
37794925Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.Brain Commun2023
37873196Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.medRxiv2023
37185208<i>ARF1</i>-related disorder: phenotypic and molecular spectrum.J Med Genet2023
37236975Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.NPJ Genom Med2023
36536096De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.2023
37165955Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.Genet Med2023
34400773Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.Journal of Human Genetics2022
35838066Newborn screening for neurodevelopmental diseases: Are we there yet?Am J Med Genet C Semin Med Genet2022
36228617Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.Dev Cell2022
35436645De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities.Pediatric Neurology2022
35871307ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.Ann Clin Transl Neurol2022
36323681Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.Nature Communications2022
35980381Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.Genet Med2022
36531974Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.Neurol Genet2022
33846556Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures.Pediatr Res2022
34321323O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.J Med Genet2022
34022130Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.Am J Hum Genet2021
34238350Autism-associated biomarkers: test-retest reliability and relationship to quantitative social trait variation in rhesus monkeys.Molecular Autism2021
33894126Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.Am J Hum Genet2021
33945466DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation.eLife2021
3366782316p11.2 deletion syndrome.Curr Opin Genet Dev2021
33871356DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation.eLife2021
34186028Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.Am J Hum Genet2021
33268356Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients.Sci Adv2020
32135084Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.Neuron2020
32360691Altered structural connectivity networks in a mouse model of complete and partial dysgenesis of the corpus callosum.NeuroImage2020
32342562Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.Annals of Neurology2020
31924697De novo variants in cause neurodevelopmental disorders associated with corpus callosum abnormalities.Journal of Medical Genetics2020
32033921Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication.Biol Psychiatry Cogn Neurosci Neuroimaging2020
33093490Integrated stress response inhibition provides sex-dependent protection against noise-induced cochlear synaptopathy.Scientific Reports2020
32906212Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.Human Mutation2020
31270155Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers.J Neurosci2019
31585109De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.Am J Hum Genet2019
30214071Genomic and phenotypic delineation of congenital microcephaly.Genet Med2019
29778275Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.Biol Psychiatry2018
28786752Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2.Radiology2018
30174244Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.Pediatr Neurol2018
30152888Cerebrospinal fluid vasopressin and symptom severity in children with autism.Ann Neurol2018
29875394Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.Nat Neurosci2018
30388402NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.Am J Hum Genet2018
30188326Deletion of Tmtc4 activates the unfolded protein response and causes postnatal hearing loss.Journal of Clinical Investigation2018
29311744Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.Nat Neurosci2018
29720452Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates.Sci Transl Med2018
29352208Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions.Scientific Reports2018
29330883Genotype-phenotype correlations in individuals with pathogenic RERE variants.Hum Mutat2018
29068161DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.Hum Mutat2018
29801487Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.BMC Medical Genomics2018
28303321Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation.Pediatric Radiology2017
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