CARLOS BACINO to Pedigree
This is a "connection" page, showing publications CARLOS BACINO has written about Pedigree.
Connection Strength
0.984
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity. Nat Commun. 2020 05 15; 11(1):2441.
Score: 0.134
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WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A. 2012 Nov; 158A(11):2917-24.
Score: 0.079
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WDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet A. 2012 Mar; 158A(3):622-5.
Score: 0.076
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Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. Am J Med Genet A. 2008 Nov 01; 146A(21):2804-9.
Score: 0.060
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Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review. Am J Med Genet A. 2007 Apr 15; 143A(8):791-8.
Score: 0.054
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Re: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions: Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois S. Am J Med Genet A. 2004 Nov 01; 130A(4):439-40.
Score: 0.046
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A case of familial isolated hemihyperplasia. BMC Med Genet. 2004 Feb 02; 5:1.
Score: 0.043
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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: 0.038
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Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. Am J Med Genet. 2000 Sep 11; 94(2):102-12.
Score: 0.034
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Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am J Med Genet. 2000 Jun 05; 92(4):250-5.
Score: 0.034
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Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. Am J Med Genet A. 2020 01; 182(1):189-194.
Score: 0.032
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.
Score: 0.032
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Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A. 2019 10; 179(10):2056-2066.
Score: 0.032
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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: 0.026
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.
Score: 0.025
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Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.
Score: 0.025
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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 04; 98(2):347-57.
Score: 0.025
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Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 Aug 07; 95(2):173-82.
Score: 0.022
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TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210.
Score: 0.021
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Early childhood presentation of Czech dysplasia. Clin Dysmorphol. 2013 Apr; 22(2):76-80.
Score: 0.020
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Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2013 Jan; 34(1):97-102.
Score: 0.020
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Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot. Am J Med Genet A. 2012 Jul; 158A(7):1620-7.
Score: 0.019
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Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association. Am J Med Genet A. 2010 Nov; 152A(11):2919-23.
Score: 0.017
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat. 2010 Jul; 31(7):840-50.
Score: 0.017
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.012
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Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005 Apr; 76(4):572-80.
Score: 0.012
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr; 36(4):405-10.
Score: 0.011
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Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter. Am J Hum Genet. 2000 Apr; 66(4):1461-4.
Score: 0.008
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Caution: telomere crossing. Am J Med Genet. 1999 Nov 26; 87(3):278-80.
Score: 0.008