CARLOS BACINO to Neurodevelopmental Disorders
This is a "connection" page, showing publications CARLOS BACINO has written about Neurodevelopmental Disorders.
Connection Strength
2.112
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Nat Commun. 2020 05 15; 11(1):2441.
Score: 0.482
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Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene. N Engl J Med. 2024 Oct 24; 391(16):1511-1518.
Score: 0.164
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118.
Score: 0.155
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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 01; 194(1):17-30.
Score: 0.152
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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Genet Med. 2023 07; 25(7):100835.
Score: 0.147
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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470.
Score: 0.136
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Anxiety in Angelman Syndrome. Am J Intellect Dev Disabil. 2022 01 01; 127(1):1-10.
Score: 0.135
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Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes. Pediatr Neurol. 2021 10; 123:30-37.
Score: 0.131
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders. Genome Med. 2021 04 19; 13(1):63.
Score: 0.129
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UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism. Am J Hum Genet. 2021 01 07; 108(1):134-147.
Score: 0.126
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BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Hum Mutat. 2020 05; 41(5):921-925.
Score: 0.118
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.
Score: 0.116
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363.
Score: 0.096
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Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83.
Score: 0.025