A. Moreno-De-Luca

发表

A framework for the investigation of rare genetic disorders in neuropsychiatry

Stephan J Sanders, Rodney C. Samaco, Anne R. Pariser, 2019, Nature Medicine.

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

D. Ledbetter, P. Fernhoff, C. Martin, 2010, Journal of Medical Genetics.

Carotid artery atherosclerosis is not associated with hyoid proximity: Results from a cross-sectional and longitudinal cohort study.

B. Cucchiara, S. Messé, A. Moreno-De-Luca, 2019, Clinical imaging.

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Swaroop Aradhya, Michael R Rossi, Vineith Kaul, 2011, Genetics in Medicine.

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Edward R. Smith, D. Geschwind, J. Broach, 2020, Nature Medicine.

Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.

D. Ledbetter, C. Martin, M. Oetjens, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.

Vladimir G. Gainullin, D. Ledbetter, C. Martin, 2021, JAMA.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in Medicine.

Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.

D. Ledbetter, C. Martin, A. Moreno-De-Luca, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci

Stephan J Sanders, J. Cubells, A. Moreno-De-Luca, 2014, Current Genetic Medicine Reports.

Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

A. Moreno-De-Luca, M. Terk, E. Harmouche, 2014, The British journal of radiology.

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.

Christa Lese Martin, D. Ledbetter, C. Martin, 2016, JAMA psychiatry.

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

David W. Evans, D. Ledbetter, A. Moreno-De-Luca, 2013, The Lancet Neurology.

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.

David W. Evans, D. Ledbetter, W. Chung, 2015, JAMA psychiatry.

Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes

S. K. Sanyal, J. Waddington, V. Faundez, 2013, Translational Psychiatry.

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

Marylyn D. Ritchie, Alan R. Shuldiner, Jeffrey Staples, 2017, bioRxiv.

Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

P. Rakic, R. Constable, N. Šestan, 2022, Nature Neuroscience.

Genetic insights into the causes and classification of the cerebral palsies

D. Ledbetter, C. Martin, A. Moreno-De-Luca, 2012, The Lancet Neurology.

Cerebral palsy and genomics: an international consortium

Gareth Baynam, Richard F Wintle, J. Gécz, 2018, Developmental medicine and child neurology.

The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained

D. Ledbetter, W. Chung, C. Martin, 2014 .

Rare copy number variation in cerebral palsy

E. Haan, J. Gécz, E. Eichler, 2013, European Journal of Human Genetics.

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.

D. Ledbetter, C. Martin, A. Moreno-De-Luca, 2023, JAMA pediatrics.

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

H. Freeze, V. Dissanayake, M. Schmidts, 2022, Clinical genetics.

Quantitative Proteomic and Genetic Analyses of the Schizophrenia Susceptibility Factor Dysbindin Identify Novel Roles of the Biogenesis of Lysosome-Related Organelles Complex 1

C. Lese-Martin, Y. Smith, V. Faundez, 2012, The Journal of Neuroscience.

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

Shrikant Mane, R. Lifton, C. Nelson-Williams, 2023, Nature Medicine.

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

J. Gécz, Changlian Zhu, L. Pérez-Jurado, 2019, Journal of child neurology.

Dual impact of PTEN mutation on CSF dynamics and cortical networks via the dysregulation of neural precursors and their interneuron descendants

M. Crair, Wei Wang, B. Luikart, 2023, bioRxiv.

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

T. Boggon, Tanyeri Barak, Shrikant Mane, 2023, bioRxiv.

A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

N. Šestan, R. Lifton, C. Nelson-Williams, 2023, medRxiv.

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

C. Farra, T. Balla, R. Maroofian, 2022, Annals of clinical and translational neurology.

Frequency of FLCN Loss of Function Variants and Birt-Hogg-Dube-Associated Phenotypes in a Healthcare System Population

D. Ledbetter, M. Oetjens, A. Moreno-De-Luca, 2022, medRxiv.

Management of dynamic cervical kyphosis with dorsal epidural lipomatosis: a Hirayama disease variant? Illustrative case

S. Robert, A. Moreno-De-Luca, Adam J. Kundishora, 2023, Journal of neurosurgery. Case lessons.

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

T. Boggon, Tanyeri Barak, Shrikant Mane, 2023, bioRxiv.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

It's time to offer genetic testing to all individuals diagnosed with cerebral palsy.

A. Moreno-De-Luca, 2023, Parkinsonism & related disorders.

Phenotypic continuum of NFU1 ‐related disorders

J. Ganesh, H. Galehdari, S. Efthymiou, 2022, Annals of clinical and translational neurology.

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

D. Ledbetter, A. Moreno-De-Luca, D. Moreno-De-Luca, 2013, The Lancet Neurology.

Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg

Denise L. Perry, A. Moreno-De-Luca, Amanda R. Clause, 2020, Molecular Syndromology.

Human genetics and molecular genomics of Chiari malformation type 1.

C. Nelson-Williams, A. Moreno-De-Luca, P. Nanda, 2023, Trends in molecular medicine.

Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.

A. Moreno-De-Luca, Juan Song, Xiaoli Zhang, 2024, Nature medicine.

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

Shrikant Mane, R. Lifton, C. Nelson-Williams, 2023, Nature communications.