DAVUT PEHLIVAN to Child, Preschool
This is a "connection" page, showing publications DAVUT PEHLIVAN has written about Child, Preschool.
Connection Strength
1.009
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Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders. Ann Clin Transl Neurol. 2025 Feb; 12(2):433-447.
Score: 0.079
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Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146.
Score: 0.078
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Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet. 2024 Nov 07; 111(11):2566-2581.
Score: 0.077
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A Comprehensive Examination of Clinical Characteristics and Determinants of Long-Term Outcomes in Pediatric Cerebral Sinus Venous Thrombosis. Pediatr Neurol. 2024 Jun; 155:76-83.
Score: 0.074
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005.
Score: 0.063
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Clinical Profile and Long-Term Outcome in Neonatal Cerebral Sinus Venous Thrombosis. Pediatr Neurol. 2021 08; 121:20-25.
Score: 0.061
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 07 03; 105(1):132-150.
Score: 0.053
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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 05; 18(5):443-51.
Score: 0.041
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NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. Genet Med. 2012 Mar; 14(3):313-22.
Score: 0.032
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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation. Am J Hum Genet. 2025 May 01; 112(5):1139-1157.
Score: 0.020
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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. Am J Hum Genet. 2025 May 01; 112(5):1117-1138.
Score: 0.020
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Cerebral Sinus Venous Thrombosis in Pediatric Acute Lymphoblastic Leukemia: Incidence, Clinical Characteristics, and Long-term Neurologic Outcomes. J Child Neurol. 2024 Nov; 39(13-14):494-499.
Score: 0.019
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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2025 Jan; 27(1):101273.
Score: 0.019
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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251.
Score: 0.019
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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet. 2024 07 11; 111(7):1352-1369.
Score: 0.019
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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 Apr 04; 147(4):1436-1456.
Score: 0.019
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Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome. Eur J Med Genet. 2021 Dec; 64(12):104367.
Score: 0.016
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Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. Am J Hum Genet. 2021 06 03; 108(6):1069-1082.
Score: 0.015
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Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249.
Score: 0.015
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A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A. 2021 07; 185(7):1972-1980.
Score: 0.015
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833.
Score: 0.015
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Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. Am J Med Genet A. 2021 04; 185(4):1288-1293.
Score: 0.015
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Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle Nerve. 2021 03; 63(3):304-310.
Score: 0.015
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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: 0.015
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Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 12; 41(12):2094-2104.
Score: 0.015
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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 09; 28(9):1243-1264.
Score: 0.014
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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 05; 7(5):610-627.
Score: 0.014
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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: 0.014
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Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Hum Mutat. 2020 01; 41(1):150-168.
Score: 0.014
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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 11 07; 105(5):1048-1056.
Score: 0.014
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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 03; 21(3):663-675.
Score: 0.013
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Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 12; 20(12):1528-1537.
Score: 0.012
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Primary Amebic Meningoencephalitis in Children: A Report of?Two Fatal Cases and Review of the Literature. Pediatr Neurol. 2017 05; 70:75-79.
Score: 0.011
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 08 04; 99(2):318-36.
Score: 0.011
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570.
Score: 0.011
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 Feb; 125(2):636-51.
Score: 0.010
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Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015 Jan; 100(1):E140-7.
Score: 0.010
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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: 0.009
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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: 0.009
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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. BMC Med Genet. 2012 Aug 10; 13:71.
Score: 0.008
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Cornelia de Lange syndrome case due to genomic rearrangements including NIPBL. Eur J Med Genet. 2010 Nov-Dec; 53(6):378-82.
Score: 0.007