SARAH ELSEA to Pedigree
This is a "connection" page, showing publications SARAH ELSEA has written about Pedigree.
Connection Strength
0.374
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Genetic diagnosis of Down syndrome in an underserved community. Am J Med Genet A. 2018 02; 176(2):483-486.
Score: 0.108
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Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb; 173(2):460-470.
Score: 0.100
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Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder. Int J Mol Sci. 2025 May 29; 26(11).
Score: 0.045
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Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 2003 Apr; 33(4):466-8.
Score: 0.039
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Ann Neurol. 2022 08; 92(2):304-321.
Score: 0.037
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Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family. Mol Genet Genomic Med. 2020 08; 8(8):e1318.
Score: 0.032
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RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. Am J Med Genet A. 2006 Nov 15; 140(22):2454-63.
Score: 0.013