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Andrés Moreno-De-Luca

Observed names: A Moreno-De-Luca, A. Moreno-De-Luca, Andres Moreno De Luca, Andres Moreno-De Luca, Andres Moreno-De-Luca, Andres Moreno-de-luca, Andres Moreno‐De‐Luca, Andrés Moreno De Luca, Andrés Moreno-de-Luca, Moreno-De-Luca, Andres
Observed institutions: Geisinger Medical Center, Bucknell University, Emory University, Queen's University, Hospital of the University of Pennsylvania, University of Florida, Queens University, Autism & Developmental Medicine Institute, Kingston Health Sciences Centre, Geisinger Health System, University of Pennsylvania
ORCID: 0000-0002-2732-4043
Observed ORCID: 0000-0002-2732-4043
OpenAlex ID: A5081707971
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
2011 · Erin B Kaminsky, Vineith Kaul, et al. · Genetics in Medicine · 446
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
2013 · Andres Moreno-De-Luca, Scott M Myers, et al. · The Lancet Neurology · 330
The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population
2014 · Ellen Hanson, Raphael Bernier, et al. · Biological Psychiatry · 276
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability
2010 · Andres Moreno-De-Luca, Sandra L Helmers, et al. · Journal of Medical Genetics · 181
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Genetic insights into the causes and classification of the cerebral palsies
2012 · Andres Moreno-De-Luca, David H Ledbetter, et al. · The Lancet Neurology · 173
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Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes
2013 · A P Mullin, A Gokhale, et al. · Translational Psychiatry · 165
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Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus
2020 · Sheng Chih Jin, Weilai Dong, et al. · Nature Medicine · 155
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A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders
2016 · Andrea J. Gonzalez-Mantilla, Andres Moreno-De-Luca, et al. · JAMA Psychiatry · 137
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The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions
2014 · Andres Moreno-De-Luca, David W. Evans, et al. · JAMA Psychiatry · 137
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy
2019 · Alastair H. MacLennan, Sara Lewis, et al. · Journal of Child Neurology · 129
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Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy
2021 · Andrés Moreno-De-Luca, Francisca Millan, et al. · JAMA · 127
A framework for the investigation of rare genetic disorders in neuropsychiatry
2019 · Stephan J. Sanders, Mustafa Sahin, et al. · Nature Medicine · 123
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Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
2022 · Phan Q. Duy, Stefan C. Weise, et al. · Nature Neuroscience · 98
Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines
2023 · Pedro J. Gonzalez-Mantilla, Yirui Hu, et al. · Archives of Pediatrics and Adolescent Medicine · 95
Rare copy number variation in cerebral palsy
2013 · Gai McMichael, Santhosh Girirajan, et al. · European Journal of Human Genetics · 87
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Quantitative Proteomic and Genetic Analyses of the Schizophrenia Susceptibility Factor Dysbindin Identify Novel Roles of the Biogenesis of Lysosome-Related Organelles Complex 1
2012 · Avanti Gokhale, Jennifer Larimore, et al. · Journal of Neuroscience · 85
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Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
2024 · Yangong Wang, Yiran Xu, et al. · Nature Medicine · 50
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
2022 · Sayaka Kayumi, Luis A. Pérez-Jurado, et al. · Genetics in Medicine · 46
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Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
2024 · Viorica Chelban, Henriette Aksnes, et al. · Nature Communications · 44
Frequency of truncating FLCN variants and Birt-Hogg-Dubé–associated phenotypes in a health care system population
2022 · Juliann M. Savatt, Hermela Shimelis, et al. · Genetics in Medicine · 33
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Social cognition and neural substrates of face perception: Implications for neurodevelopmental and neuropsychiatric disorders
2014 · Steven M. Lazar, David W. Evans, et al. · Behavioural Brain Research · 29
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
2023 · Shujuan Zhao, Kedous Y. Mekbib, et al. · Nature Communications · 27
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PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy
2022 · Hormos Salimi Dafsari, Joshua G. Pemberton, et al. · Annals of Clinical and Translational Neurology · 26
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Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci
2014 · Daniel Moreno-De-Luca, Andres Moreno-De-Luca, et al. · Current Genetic Medicine Reports · 24
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Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders
2013 · M Xing, E I Parker, et al. · British Journal of Radiology · 24
Works count: 74
Citation count: 3,304
H-index: 24
I10-index: 38
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