Connection

DANIEL CALAME to Humans

This is a "connection" page, showing publications DANIEL CALAME has written about Humans.
Connection Strength

0.456
  1. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum. Genet Med. 2025 Jan; 27(1):101273.
    View in: PubMed
    Score: 0.025
  2. Functional genomics and small molecules in mitochondrial neurodevelopmental disorders. Neurotherapeutics. 2024 Jan; 21(1):e00316.
    View in: PubMed
    Score: 0.024
  3. 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.
    View in: PubMed
    Score: 0.023
  4. 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.
    View in: PubMed
    Score: 0.022
  5. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 10; 8(10):2052-2058.
    View in: PubMed
    Score: 0.021
  6. 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.
    View in: PubMed
    Score: 0.020
  7. Clinical and Neuroimaging Features of Peroxisomal Disorders. Neuropediatrics. 2022 02; 53(1):75-77.
    View in: PubMed
    Score: 0.020
  8. Risk of sudden cardiac death in EXOSC5-related disease. Am J Med Genet A. 2021 08; 185(8):2532-2540.
    View in: PubMed
    Score: 0.020
  9. Apneic Seizures in a Child with Achondroplasia. Neuropediatrics. 2021 10; 52(5):415-416.
    View in: PubMed
    Score: 0.020
  10. 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.
    View in: PubMed
    Score: 0.020
  11. Innate and adaptive immunologic functions of complement in the host response to Listeria monocytogenes infection. Immunobiology. 2016 12; 221(12):1407-1417.
    View in: PubMed
    Score: 0.014
  12. Therapeutic potential of lung epithelial progenitor cells derived from embryonic and induced pluripotent stem cells. Annu Rev Med. 2011; 62:95-105.
    View in: PubMed
    Score: 0.010
  13. Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation. Am J Hum Genet. 2025 May 01; 112(5):1139-1157.
    View in: PubMed
    Score: 0.007
  14. 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.
    View in: PubMed
    Score: 0.007
  15. Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's disease. Cell Rep. 2025 Mar 25; 44(3):115355.
    View in: PubMed
    Score: 0.007
  16. Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders. Neurology. 2025 Apr 08; 104(7):e213429.
    View in: PubMed
    Score: 0.007
  17. Subacute Neuropathy Post-Liver Transplantation in Zellweger Spectrum Disorder: A Case Report. Am J Med Genet A. 2025 Apr; 197(4):e63941.
    View in: PubMed
    Score: 0.006
  18. Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. Am J Hum Genet. 2024 Nov 07; 111(11):2566-2581.
    View in: PubMed
    Score: 0.006
  19. 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.
    View in: PubMed
    Score: 0.006
  20. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. Genet Med. 2024 Oct; 26(10):101199.
    View in: PubMed
    Score: 0.006
  21. 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.
    View in: PubMed
    Score: 0.006
  22. 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.
    View in: PubMed
    Score: 0.006
  23. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 Feb 28; 52(4):e18.
    View in: PubMed
    Score: 0.006
  24. Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder. Genet Med. 2024 03; 26(3):101034.
    View in: PubMed
    Score: 0.006
  25. 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.
    View in: PubMed
    Score: 0.006
  26. 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.
    View in: PubMed
    Score: 0.006
  27. Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 08 01; 146(8):3162-3171.
    View in: PubMed
    Score: 0.006
  28. 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.
    View in: PubMed
    Score: 0.006
  29. 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.
    View in: PubMed
    Score: 0.006
  30. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genet Med. 2023 08; 25(8):100856.
    View in: PubMed
    Score: 0.006
  31. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808.
    View in: PubMed
    Score: 0.006
  32. 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.
    View in: PubMed
    Score: 0.006
  33. 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.
    View in: PubMed
    Score: 0.006
  34. 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.
    View in: PubMed
    Score: 0.006
  35. 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.
    View in: PubMed
    Score: 0.006
  36. 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.
    View in: PubMed
    Score: 0.005
  37. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 06 03; 145(5):e36-e40.
    View in: PubMed
    Score: 0.005
  38. TLR7 gain-of-function genetic variation causes human lupus. Nature. 2022 05; 605(7909):349-356.
    View in: PubMed
    Score: 0.005
  39. NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 06; 136(2):101-110.
    View in: PubMed
    Score: 0.005
  40. 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.
    View in: PubMed
    Score: 0.005
  41. 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.
    View in: PubMed
    Score: 0.005
  42. 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.
    View in: PubMed
    Score: 0.005
  43. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 10 07; 108(10):1981-2005.
    View in: PubMed
    Score: 0.005
  44. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 07; 185(7):2241-2249.
    View in: PubMed
    Score: 0.005
  45. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 04; 89(4):828-833.
    View in: PubMed
    Score: 0.005
  46. Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease. Muscle Nerve. 2021 03; 63(3):304-310.
    View in: PubMed
    Score: 0.005
  47. Degos disease: A radiological-pathological correlation of the neuroradiological aspects of the disease. Ann Diagn Pathol. 2020 Aug; 47:151545.
    View in: PubMed
    Score: 0.005
  48. 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.
    View in: PubMed
    Score: 0.005
  49. 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.
    View in: PubMed
    Score: 0.005
  50. 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.
    View in: PubMed
    Score: 0.002
  51. Autocrine release of interleukin-9 promotes Jak3-dependent survival of ALK+ anaplastic large-cell lymphoma cells. Blood. 2006 Oct 01; 108(7):2407-15.
    View in: PubMed
    Score: 0.002
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.