Co-Authors
This is a "connection" page, showing publications co-authored by SEEMA LALANI and DARYL SCOTT.
Connection Strength
2.148
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Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants. Am J Med Genet A. 2024 03; 194(3):e63445.
Score: 0.227
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Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return. Eur J Hum Genet. 2023 12; 31(12):1430-1439.
Score: 0.225
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Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study. Am J Med Genet A. 2023 09; 191(9):2433-2439.
Score: 0.222
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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470.
Score: 0.201
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Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. Am J Med Genet A. 2020 08; 182(8):1960-1966.
Score: 0.179
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Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 07; 179(7):1376-1382.
Score: 0.166
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.151
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Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PLoS One. 2017; 12(4):e0175962.
Score: 0.144
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Chromosome 5q33 deletions associated with congenital heart defects. Am J Med Genet A. 2016 12; 170(12):3338-3342.
Score: 0.138
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Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet. 2017 01; 54(1):47-53.
Score: 0.138
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Duplication of HEY2 in cardiac and neurologic development. Am J Med Genet A. 2015 Sep; 167A(9):2145-9.
Score: 0.125
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Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies. Genet Med. 2022 02; 24(2):364-373.
Score: 0.050
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Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. Am J Med Genet A. 2019 12; 179(12):2459-2468.
Score: 0.043
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De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Am J Hum Genet. 2016 09 01; 99(3):720-727.
Score: 0.034
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Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. PLoS One. 2014; 9(1):e85600.
Score: 0.029
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NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res. 2013 Sep; 23(9):1395-409.
Score: 0.027
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Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association. Am J Med Genet A. 2012 Jul; 158A(7):1785-7.
Score: 0.026
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Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6.
Score: 0.023