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E. Sherr · SciRah

Researcher profile · Semantic Scholar

E. Sherr

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E. Sherr — researcher profile on SciRah

h-index: 54
Works: 187
Citations: 11K

Most-cited papers

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.
S. Appenzeller, R. Balling, N. Barišić, S. Baulac +117 more
2017American Journal of Human Genetics326 citations Open access
Semantic Scholar
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
Candace T. Myers, J. Mcmahon, Amy L. Schneider, S. Petrovski +41 more
2016American Journal of Human Genetics261 citations Open access
Semantic Scholar
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
Deb D'Angelo, S. Lebon, Qi-Xuan Chen, S. Martin-Brevet +51 more
2016JAMA psychiatry232 citations Open access
Semantic Scholar
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
A. Allen, S. Bellows, S. Berkovic, Joshua Bridgers +82 more
2017Lancet Neurology218 citations Open access
Semantic Scholar
Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development
Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, B. Johnson-Kerner +50 more
2018bioRxiv187 citations Open access
Semantic Scholar
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
E. Jenkinson, M. Rodero, Paul R. Kasher, Carolina Uggenti +62 more
2016Nature Genetics134 citations Open access
Semantic Scholar
Genomic and phenotypic delineation of congenital microcephaly
R. Shaheen, S. Maddirevula, N. Ewida, S. Alsahli +43 more
2018Genetics in Medicine110 citations Open access
Semantic Scholar
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Ashley P. L. Marsh, D. Heron, Timothy J. Edwards, A. Quartier +49 more
2017Nature Genetics91 citations Open access
Semantic Scholar
16p11.2 deletion syndrome
W. Chung, T. Roberts, E. Sherr, L. Snyder +1 more
2021Current Opinion in Genetics and Development83 citations Open access
Semantic Scholar
The Contribution of the Corpus Callosum to Language Lateralization
L. Hinkley, Elysa J. Marco, Ethan G. Brown, Polina Bukshpun +9 more
2016Journal of Neuroscience80 citations Open access
Semantic Scholar
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
L. Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione +128 more
2020Science Advances76 citations Open access
Semantic Scholar
Astroglial-mediated remodeling of the interhemispheric midline is required for the formation of the corpus callosum
Ilan Gobius, Laura Morcom, Rodrigo Suárez, J. Bunt +7 more
2016Cell Reports75 citations Open access
Semantic Scholar
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
S. Martin-Brevet, B. Rodríguez-Herreros, J. Nielsen, C. Moreau +19 more
2018Biological Psychiatry66 citations Open access
Semantic Scholar
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder
F. Millan, M. Cho, K. Retterer, Kristin G Monaghan +16 more
2016American Journal of Medical Genetics. Part A61 citations
Semantic Scholar
Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates
K. J. Parker, J. Garner, Ozge Oztan, E. R. Tarara +10 more
2018Science Translational Medicine60 citations Open access
Semantic Scholar
DCC mutation update: congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome
Ashley P. L. Marsh, Timothy J. Edwards, C. Galea, H. Cooper +20 more
2017Human Mutation59 citations Open access
Semantic Scholar
Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication
LeeAnne Green Snyder, Deb D'Angelo, Qi-Xuan Chen, R. Bernier +16 more
2016Journal of Autism and Developmental Disorders59 citations
Semantic Scholar
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
I. Schanze, J. Bunt, Jonathan W. C. Lim, D. Schanze +45 more
2018American Journal of Human Genetics57 citations Open access
Semantic Scholar
Cerebrospinal Fluid Vasopressin and Symptom Severity in Children with Autism
Ozge Oztan, J. Garner, S. Partap, E. Sherr +5 more
2018Annals of Neurology53 citations Open access
Semantic Scholar
Deletion of Tmtc4 activates the unfolded protein response and causes postnatal hearing loss
Jiang-Chao Li, O. Akil, S. L. Rouse, Conor W. McLaughlin +4 more
2018Journal of Clinical Investigation51 citations Open access
Semantic Scholar
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
A. Accogli, Sara Calabretta, J. St‐Onge, Nassima Boudrahem-Addour +28 more
2019American Journal of Human Genetics48 citations Open access
Semantic Scholar
Genotype–phenotype correlations in individuals with pathogenic RERE variants
Valerie K. Jordan, Brieana Fregeau, Xiaoyan Ge, J. Giordano +25 more
2018Human Mutation46 citations Open access
Semantic Scholar
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
A. Slavotinek, Shannon Rego, Nuriye N Sahin-Hodoglugil, M. Kvale +34 more
2023npj Genomic Medicine45 citations Open access
Semantic Scholar
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
E. Leitão, Christopher Schröder, I. Parenti, C. Dalle +33 more
2022Nature Communications44 citations Open access
Semantic Scholar
Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans
Thomas Gstrein, Andrew Edwards, A. Přistoupilová, Ines Leca +23 more
2018Nature Neuroscience44 citations Open access
Semantic Scholar
Early Predictors of Impaired Social Functioning in Male Rhesus Macaques (Macaca mulatta)
V. Sclafani, L. Del Rosso, Shannon K. Seil, Laura A. Calonder +6 more
2016PLoS ONE44 citations Open access
Semantic Scholar
Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions
C. Demopoulos, H. Kothare, D. Mizuiri, Jennifer Henderson-sabes +5 more
2017Scientific Reports41 citations Open access
Semantic Scholar
Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications
Yi-Shin Chang, J. Owen, Nicholas J. Pojman, T. Thieu +11 more
2016Human Brain Mapping41 citations Open access
Semantic Scholar
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
A. R. Duncan, Maya M. Polovitskaya, Héctor Gaitán-Peñas, S. Bertelli +35 more
2021American Journal of Human Genetics37 citations Open access
Semantic Scholar
Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2.
J. Owen, Polina Bukshpun, Nicholas Pojman, T. Thieu +11 more
2018Radiology36 citations
Semantic Scholar
The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
Margaret Gadek, E. Sherr, S. Floor
2023Trends in Molecular Medicine35 citations Open access
Semantic Scholar
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
A. Vetro, Cristiana Pelorosso, S. Balestrini, A. Masi +117 more
2023American Journal of Human Genetics35 citations Open access
Semantic Scholar
Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication.
Julian Jenkins, Vivian Y. Chow, L. Blaskey, Emily S. Kuschner +11 more
2016Cerebral Cortex34 citations Open access
Semantic Scholar
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.
M. Jeanne, Hélène Demory, Aubin Moutal, M. Vuillaume +37 more
2021American Journal of Human Genetics31 citations Open access
Semantic Scholar
Diverse genetic causes of polymicrogyria with epilepsy
A. Allen, V. Aggarwal, S. Berkovic, P. Cossette +75 more
2021Epilepsia26 citations Open access
Semantic Scholar
Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction
Elysa J. Marco, Anne Brandes Aitken, Vishnu Prakas Nair, G. Da Gente +4 more
2018BMC Medical Genomics24 citations Open access
Semantic Scholar
Abnormal auditory and language pathways in children with 16p11.2 deletion
J. Berman, D. Chudnovskaya, L. Blaskey, Emily S. Kuschner +7 more
2015NeuroImage: Clinical24 citations Open access
Semantic Scholar
ARHGEF9 disease
M. Alber, V. Kalscheuer, Elysa J. Marco, E. Sherr +18 more
2017Neurology: Genetics23 citations Open access
Semantic Scholar
Loss of Non-motor Kinesin KIF26A Causes Congenital Brain Malformations via Dysregulated Neuronal Migration and Axonal Growth as well as Apoptosis
Xu-Yu Qian, Ellen M. DeGennaro, Maya Talukdar, Shyam K. Akula +31 more
2022Developmental Cell22 citations Open access
Semantic Scholar
Newborn screening for neurodevelopmental diseases: Are we there yet?
Wendy K. Chung, J. Berg, J. Botkin, S. Brenner +13 more
2022American Journal of Medical Genetics. Part C, Seminars in Medical Genetics22 citations Open access
Semantic Scholar
Integrated stress response inhibition provides sex-dependent protection against noise-induced cochlear synaptopathy
S. L. Rouse, Ian Matthews, Jiang-Chao Li, E. Sherr +1 more
2020Scientific Reports22 citations Open access
Semantic Scholar
Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures
A. Numis, G. Da Gente, E. Sherr, H. Glass
2021Pediatric Research21 citations Open access
Semantic Scholar
DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation
Laura Morcom, Timothy J. Edwards, Eric Rider, Dorothy M. Jones-Davis +10 more
2020bioRxiv21 citations Open access
Semantic Scholar
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders
A. Vanderver, G. Bernard, G. Helman, O. Sherbini +26 more
2020Annals of Neurology21 citations Open access
Semantic Scholar
O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum
C. Velmans, A. O'Donnell-Luria, E. Argilli, Frederic Tran Mau-them +35 more
2021Journal of Medical Genetics20 citations Open access
Semantic Scholar
Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers
Jeffrey I. Berman, D. Chudnovskaya, L. Blaskey, Emily S. Kuschner +6 more
2016American Journal of Neuroradiology20 citations Open access
Semantic Scholar
Discovering the gene-brain-behavior link in autism via generative machine learning
Shinjini Kundu, H. Sair, E. Sherr, Pratik Mukherjee +1 more
2024Science Advances19 citations Open access
Semantic Scholar
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
G. Lemire, A. Sanchis-Juan, Kathryn A. Russell, S. Baxter +60 more
2024American Journal of Human Genetics19 citations Open access
Semantic Scholar
Altered structural connectivity networks in a mouse model of complete and partial dysgenesis of the corpus callosum
Timothy J. Edwards, Laura R. Fenlon, R. Dean, J. Bunt +2 more
2020NeuroImage19 citations Open access
Semantic Scholar
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
H. Hengel, Shabab B. Hannan, S. Dyack, S. Mackay +42 more
2021American Journal of Human Genetics18 citations Open access
Semantic Scholar

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