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Moreno-De-Luca, Andrés
126  results:
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1

Pathogenic variants in autism geneKATNAL2cause hydrocephalu..:

DeSpenza Jr., Tyrone ; Singh, Amrita ; Allington, Garrett...
Proceedings of the National Academy of Sciences.  121 (2024)  27 - p. , 2024
Link: https://doi.org/10.1073/..
 
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2

Exome sequencing reveals genetic heterogeneity and clinical..:

Wang, Yangong ; Xu, Yiran ; Zhou, Chongchen...
Nature Medicine.  , 2024
Link: https://doi.org/10.1038/..
 
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3

Multiomic analyses implicate a neurodevelopmental program i..:

Kundishora, Adam J. ; Allington, Garrett ; McGee, Stephen...
Nature Medicine.  29 (2023)  3 - p. 667-678 , 2023
Link: https://doi.org/10.1038/..
 
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4

Management of dynamic cervical kyphosis with dorsal epidura..:

Kundishora, Adam J. ; Reeves, Benjamin C. ; Moreno-De-Luca, Andres...
Journal of Neurosurgery: Case Lessons.  5 (2023)  10 - p. , 2023
Link: https://doi.org/10.3171/..
 
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5

Human genetics and molecular genomics of Chiari malformatio..:

Mekbib, Kedous Y. ; Muñoz, William ; Allington, Garrett...
Trends in Molecular Medicine.  29 (2023)  12 - p. 1059-1075 , 2023
Link: https://doi.org/10.1016/..
 
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6

It's time to offer genetic testing to all individuals diagn..:

Moreno-De-Luca, Andrés
Parkinsonism & Related Disorders.  111 (2023)  - p. 105449 , 2023
Link: https://doi.org/10.1016/..
 
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7

A novel SMARCC1 BAFopathy implicates neural progenitor epig..:

Singh, Amrita K ; Allington, Garrett ; Viviano, Stephen...
Brain.  147 (2023)  4 - p. 1553-1570 , 2023
Link: https://doi.org/10.1093/..
 
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8

Phenotypic shift in copy number variants: Evidence in 16p11..:

Taylor, Cora M. ; Finucane, Brenda M. ; Moreno-De-Luca, Andres...
Genetics in Medicine.  25 (2023)  1 - p. 151-154 , 2023
Link: https://doi.org/10.1016/..
 
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9

Frequency of truncating FLCN variants and Birt-Hogg-Dubé–as..:

Savatt, Juliann M. ; Shimelis, Hermela ; Moreno-De-Luca, Andres...
Genetics in Medicine.  24 (2022)  9 - p. 1857-1866 , 2022
Link: https://doi.org/10.1016/..
 
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10

Identifying loss of function FLCN variants and Birt-Hogg-Du..:

Savatt, Juliann ; Shimelis, Hermela ; Myers, Scott..
Molecular Genetics and Metabolism.  132 (2021)  - p. S36-S37 , 2021
Link: https://doi.org/10.1016/..
 
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11

Carotid artery atherosclerosis is not associated with hyoid..:

Siegler, James E. ; Konsky, Glenn ; Renner, Christopher...
Clinical Imaging.  58 (2019)  - p. 39-45 , 2019
Link: https://doi.org/10.1016/..
 
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12

No Association Between Carotid Artery Atherosclerosis and H..:

Siegler, James ; Konsky, Glenn ; Renner, Christopher...
Neurology.  92 (2019)  15_supplement - p. , 2019
Link: https://doi.org/10.1212/..
 
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13

Genetic or Other Causation Should Not Change the Clinical D..:

MacLennan, Alastair H. ; Lewis, Sara ; Moreno-De-Luca, Andres...
Journal of Child Neurology.  34 (2019)  8 - p. 472-476 , 2019
Link: https://doi.org/10.1177/..
 
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14

The Cognitive and Behavioral Phenotype of the 16p11.2 Delet..:

Hanson, Ellen ; Bernier, Raphael ; Porche, Ken...
Biological Psychiatry.  77 (2015)  9 - p. 785-793 , 2015
Link: https://doi.org/10.1016/..
 
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15

Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci:

Moreno-De-Luca, Daniel ; Moreno-De-Luca, Andres ; Cubells, Joseph F..
Current Genetic Medicine Reports.  2 (2014)  3 - p. 151-161 , 2014
Link: https://doi.org/10.1007/..
 
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