Co-Authors
This is a "connection" page, showing publications co-authored by BRENDAN LEE and CARLOS BACINO.
Connection Strength
0.906
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De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies. Genet Med. 2025 Apr; 27(4):101369.
Score: 0.238
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Lysinuric Protein Intolerance Presenting with Multiple Fractures. Mol Genet Metab Rep. 2014; 1:176-183.
Score: 0.111
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Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr; 22(2):76-80.
Score: 0.105
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jun 06; 111(6):1239.
Score: 0.057
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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Apr 04; 111(4):805.
Score: 0.056
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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: 0.055
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Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy. medRxiv. 2023 Mar 29.
Score: 0.052
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PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. Am J Med Genet A. 2022 06; 188(6):1868-1874.
Score: 0.049
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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438.
Score: 0.039
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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479.
Score: 0.039
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Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. N Engl J Med. 2018 11 29; 379(22):2131-2139.
Score: 0.038
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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet. 2017 Nov 02; 101(5):815-823.
Score: 0.036
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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 2015 May 07; 96(5):841-9.
Score: 0.030