Sherr, Elliott H.

Agenesis of the corpus callosum: Genetic, developmental and functional aspects of connectivity

Paul, L. K., Brown, W. S., Adolphs, R., Tyszka, J. M., Richards, L. J., Mukherjee, P., & Sherr, E. H. (2007) · Nature Reviews Neuroscience

Fetal and Pediatric Neurological DisordersAdvanced Neuroimaging Techniques and Applications

Cited by 830

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., et al. (2012) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 326

Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities

D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., et al. (2016) · JAMA Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 277

16p11.2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort

Steinman, K. J., Spence, S. J., Ramocki, M. B., Proud, M. B., Kessler, S. K., Marco, E. J., Green Snyder, L., D'Angelo, D., Chen, Q., Chung, W. K., et al. (2016) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 218

Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers

Qureshi, A. Y., Mueller, S., Snyder, A. Z., Mukherjee, P., Berman, J. I., Roberts, T. P. L., Nagarajan, S. S., Spiro, J. E., Chung, W. K., Sherr, E. H., et al. (2014) · The Journal of Neuroscience

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 183

White Matter Changes of Neurite Density and Fiber Orientation Dispersion during Human Brain Maturation

Chang, Y. S., Owen, J. P., Pojman, N. J., Thieu, T., Bukshpun, P., Wakahiro, M. L. J., Berman, J. I., Roberts, T. P. L., Nagarajan, S. S., Sherr, E. H., et al. (2015) · PLOS ONE

Advanced Neuroimaging Techniques and ApplicationsFunctional Brain Connectivity Studies

Cited by 178

The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes

Sherr, E. H. (2003) · Current Opinion in Pediatrics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 151

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Jenkinson, E. M., Rodero, M. P., Kasher, P. R., Uggenti, C., Oojageer, A., Goosey, L. C., Rose, Y., Kershaw, C. J., Urquhart, J. E., Williams, S. G., et al. (2016) · Nature Genetics

Cerebrovascular and genetic disordersGenomics and Rare Diseases

Cited by 148

Aberrant white matter microstructure in children with 16p11.2 deletions

Owen, J. P., Chang, Y. S., Pojman, N. J., Bukshpun, P., Wakahiro, M. L. J., Marco, E. J., Berman, J. I., Spiro, J. E., Chung, W. K., Buckner, R. L., et al. (2014) · The Journal of Neuroscience

Advanced Neuroimaging Techniques and ApplicationsGenomic variations and chromosomal abnormalities

Cited by 113

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Marsh, A. P. L., Heron, D., Edwards, T. J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M.-L., Anderson, V., Bitoun, P., et al. (2017) · Nature Genetics

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 101

Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications

Chang, Y. S., Owen, J. P., Pojman, N. J., Thieu, T., Bukshpun, P., Wakahiro, M. L. J., Marco, E. J., Berman, J. I., Spiro, J. E., Chung, W. K., et al. (2016) · Human Brain Mapping

Genomic variations and chromosomal abnormalitiesAdvanced Neuroimaging Techniques and Applications

Cited by 81

Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study

Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates

Parker, K. J., Garner, J. P., Oztan, O., Tarara, E. R., Li, J., Sclafani, V., Del Rosso, L. A., Chun, K., Berquist, S. W., Chez, M. G., et al. (2018) · Science Translational Medicine

Neuroendocrine regulation and behaviorAutism Spectrum Disorder Research

Cited by 64

NFIB haploinsufficiency is associated with intellectual disability and macrocephaly

Schanze, I., Bunt, J., Lim, J. W. C., Schanze, D., Dean, R. J., Alders, M., Blanchet, P., Attié-Bitach, T., Berland, S., Boogert, S., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 63

Mapk/Erk activation in an animal model of social deficits shows a possible link to autism

Faridar, A., Jones-Davis, D., Rider, E., Li, J., Gobius, I., Morcom, L., Richards, L. J., Sen, S., & Sherr, E. H. (2014) · Molecular Autism

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 63

Deletion of Tmtc4 activates the unfolded protein response and causes postnatal hearing loss

Li, J., Akil, O., Rouse, S. L., McLaughlin, C. W., Matthews, I. R., Lustig, L. R., Chan, D. K., & Sherr, E. H. (2018) · Journal of Clinical Investigation

Hearing, Cochlea, Tinnitus, GeneticsEndoplasmic Reticulum Stress and Disease

Cited by 61

Quantitative trait loci for interhemispheric commissure development and social behaviors in the BTBR T+ tf/J mouse model of autism

Jones-Davis, D. M., Yang, M., Rider, E., Osbun, N. C., da Gente, G. J., Li, J., Katz, A. M., Weber, M. D., Sen, S., Crawley, J., et al. (2013) · PLoS ONE

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 61

Cerebrospinal fluid vasopressin and symptom severity in children with autism

Oztan, O., Garner, J. P., Partap, S., Sherr, E. H., Hardan, A. Y., Farmer, C., Thurm, A., Swedo, S. E., & Parker, K. J. (2018) · Annals of Neurology

Autism Spectrum Disorder ResearchNeuroendocrine regulation and behavior

Cited by 59

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., Kuechler, A., Kaya, S., Gérard, B., Schaefer, E., et al. (2022) · Nature Communications

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 47

Abnormal speech motor control in individuals with 16p11.2 deletions

Demopoulos, C., Kothare, H., Mizuiri, D., Henderson-Sabes, J., Fregeau, B., Tjernagel, J., Houde, J. F., Sherr, E. H., & Nagarajan, S. S. (2018) · Scientific Reports

Phonetics and Phonology ResearchMotor Control and Adaptation

Cited by 42

Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2

Owen, J. P., Bukshpun, P., Pojman, N., Thieu, T., Chen, Q., Lee, J., D’Angelo, D., Glenn, O. A., Hunter, J. V., Berman, J. I., et al. (2018) · Radiology

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 40

Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia

Olney, N. T., Alquezar, C., Ramos, E. M., Nana, A. L., Fong, J. C., Karydas, A. M., Taylor, J. B., Stephens, M. L., Argouarch, A. R., Van Berlo, V. A., et al. (2017) · Acta Neuropathologica

Tuberous Sclerosis Complex ResearchAlzheimer's disease research and treatments

Cited by 15