DAVUT PEHLIVAN to Microcephaly
This is a "connection" page, showing publications DAVUT PEHLIVAN has written about Microcephaly.
Connection Strength
2.021
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Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities. Am J Hum Genet. 2026 Mar 05; 113(3):548-561.
Score: 0.760
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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 04 04; 147(4):1436-1456.
Score: 0.167
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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly. Am J Hum Genet. 2023 03 02; 110(3):499-515.
Score: 0.154
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A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 03; 191(3):794-804.
Score: 0.153
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Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy. Genet Med. 2021 12; 23(12):2455-2460.
Score: 0.139
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133.
Score: 0.131
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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 05; 7(5):610-627.
Score: 0.127
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Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 11 07; 105(5):1005-1015.
Score: 0.122
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Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013 Dec; 70(12):1491-8.
Score: 0.081
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Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report. Tokai J Exp Clin Med. 2011 Jul 20; 36(2):29-30.
Score: 0.069
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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Nat Commun. 2025 Feb 17; 16(1):1703.
Score: 0.044
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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain. 2020 01 01; 143(1):112-130.
Score: 0.031
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 05; 94(6):915-23.
Score: 0.021
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Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 Apr 24; 157(3):636-50.
Score: 0.021