LINDSAY BURRAGE to Intellectual Disability
This is a "connection" page, showing publications LINDSAY BURRAGE has written about Intellectual Disability.
Connection Strength
2.134
-
A novel, de novo intronic variant in POGZ causes White-Sutton syndrome. Am J Med Genet A. 2022 07; 188(7):2198-2203.
Score: 0.490
-
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.
Score: 0.460
-
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 Jan; 194(1):17-30.
Score: 0.136
-
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects. Brain. 2023 04 19; 146(4):1373-1387.
Score: 0.132
-
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Mol Autism. 2021 10 26; 12(1):69.
Score: 0.119
-
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay. Am J Hum Genet. 2021 09 02; 108(9):1710-1724.
Score: 0.117
-
Heterozygous variants in SPTBN1 cause intellectual disability and autism. Am J Med Genet A. 2021 07; 185(7):2037-2045.
Score: 0.114
-
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. Am J Hum Genet. 2020 05 07; 106(5):717-725.
Score: 0.107
-
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 02 28; 11(1):12.
Score: 0.099
-
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 10; 38(10):1365-1371.
Score: 0.088
-
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. Am J Hum Genet. 2017 Apr 06; 100(4):676-688.
Score: 0.086
-
The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan; 13(1):44-58.
Score: 0.069
-
A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14. Am J Med Genet A. 2013 Apr; 161A(4):841-4.
Score: 0.065
-
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 07; 62(7):e103-e109.
Score: 0.029
-
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242.
Score: 0.024