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Academic Journal

A comprehensive hybridization model allows whole HERV transcriptome profiling using high density microarray

Subjects: Transcriptomics; Biostatistics; Microarray

  • Source: ISSN: 1471-2164 ; BMC Genomics ; https://hal.science/hal-03468668 ; BMC Genomics, 2017, 18 (1), pp.286. ⟨10.1186/s12864-017-3669-7⟩.

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Academic Journal

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

Subjects: Autism Spectrum Disorder; Williams Beuren syndrome; 7q11.23 microdeletion

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-04892404 ; Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.121. ⟨10.1186/s13023-019-1094-5⟩.

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Academic Journal

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

Subjects: chromosomal microarray; diagnostic yield; exome sequencing (ES)

  • Source: ISSN: 1664-8021 ; Frontiers in Genetics ; https://normandie-univ.hal.science/hal-04081633 ; Frontiers in Genetics, 2023, 14, pp.1099995. ⟨10.3389/fgene.2023.1099995⟩.

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Academic Journal

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

Subjects: 17q duplication; 21q deletion; chromosomal microarray

  • Source: EISSN: 2050-0904 ; Clinical Case Reports ; https://hal.science/hal-04480033 ; Clinical Case Reports, 2018, 6 (5), pp.827-834. ⟨10.1002/ccr3.1450⟩

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