DANIEL CALAME to Humans
This is a "connection" page, showing publications DANIEL CALAME has written about Humans.
Connection Strength
0.456
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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: 0.025
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Functional genomics and small molecules in mitochondrial neurodevelopmental disorders. Neurotherapeutics. 2024 Jan; 21(1):e00316.
Score: 0.024
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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 08 03; 110(8):1394-1413.
Score: 0.023
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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: 0.022
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Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 10; 8(10):2052-2058.
Score: 0.021
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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: 0.020
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Clinical and Neuroimaging Features of Peroxisomal Disorders. Neuropediatrics. 2022 02; 53(1):75-77.
Score: 0.020
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Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 08; 185(8):2532-2540.
Score: 0.020
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Apneic Seizures in a Child with Achondroplasia. Neuropediatrics. 2021 10; 52(5):415-416.
Score: 0.020
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A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients. Eur J Paediatr Neurol. 2021 Mar; 31:21-26.
Score: 0.020
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Innate and adaptive immunologic functions of complement in the host response to Listeria monocytogenes infection. Immunobiology. 2016 12; 221(12):1407-1417.
Score: 0.014
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Therapeutic potential of lung epithelial progenitor cells derived from embryonic and induced pluripotent stem cells. Annu Rev Med. 2011; 62:95-105.
Score: 0.010
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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: 0.007
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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: 0.007
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Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease. Cell Rep. 2025 Mar 25; 44(3):115355.
Score: 0.007
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Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders. Neurology. 2025 Apr 08; 104(7):e213429.
Score: 0.007
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Subacute Neuropathy Post-Liver Transplantation in Zellweger Spectrum Disorder: A Case Report. Am J Med Genet A. 2025 Apr; 197(4):e63941.
Score: 0.006
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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: 0.006
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Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. Eur J Hum Genet. 2025 Mar; 33(2):231-238.
Score: 0.006
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Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. Genet Med. 2024 Oct; 26(10):101199.
Score: 0.006
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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: 0.006
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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 Jul; 26(7):101125.
Score: 0.006
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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18.
Score: 0.006
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Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med. 2024 03; 26(3):101034.
Score: 0.006
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Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 11; 46(6):1195-1205.
Score: 0.006
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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 10 05; 110(10):1787-1803.
Score: 0.006
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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 08 01; 146(8):3162-3171.
Score: 0.006
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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. Eur J Hum Genet. 2023 08; 31(8):905-917.
Score: 0.006
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Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clin Genet. 2023 09; 104(3):344-349.
Score: 0.006
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Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genet Med. 2023 08; 25(8):100856.
Score: 0.006
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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808.
Score: 0.006
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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis. Am J Hum Genet. 2023 04 06; 110(4):663-680.
Score: 0.006
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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. Am J Hum Genet. 2023 01 05; 110(1):120-145.
Score: 0.006
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Biallelic variants in HECT E3 paralogs, HECTD4 and?UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. Genet Med. 2023 02; 25(2):100323.
Score: 0.006
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Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Dev Cell. 2022 10 24; 57(20):2381-2396.e13.
Score: 0.006
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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode. Am J Hum Genet. 2022 09 01; 109(9):1713-1723.
Score: 0.005
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Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 06 03; 145(5):e36-e40.
Score: 0.005
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TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022 05; 605(7909):349-356.
Score: 0.005
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NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 06; 136(2):101-110.
Score: 0.005
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El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 05; 101(5-6):530-540.
Score: 0.005
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Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Am J Med Genet A. 2022 07; 188(7):2153-2161.
Score: 0.005
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Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses. Am J Med Genet A. 2022 03; 188(3):735-750.
Score: 0.005
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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: 0.005
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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: 0.005
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833.
Score: 0.005
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Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle Nerve. 2021 03; 63(3):304-310.
Score: 0.005
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Degos disease: A radiological-pathological correlation of the neuroradiological aspects of the disease. Ann Diagn Pathol. 2020 Aug; 47:151545.
Score: 0.005
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020 04 02; 106(4):570-583.
Score: 0.005
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Bi-allelic LoF NRROS Variants Impairing Active TGF-?1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. Am J Hum Genet. 2020 04 02; 106(4):559-569.
Score: 0.005
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Transplantation of human embryonic stem cell-derived alveolar epithelial type II cells abrogates acute lung injury in mice. Mol Ther. 2010 Mar; 18(3):625-34.
Score: 0.002
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Autocrine release of interleukin-9 promotes Jak3-dependent survival of ALK+ anaplastic large-cell lymphoma cells. Blood. 2006 Oct 01; 108(7):2407-15.
Score: 0.002