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| 2. |
- Denomme-Pichon, AS, et al.
(författare)
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Solve-RD: the ITHACA perspective
- 2022
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Ingår i: EUROPEAN JOURNAL OF HUMAN GENETICS. - 1018-4813. ; 30:SUPPL 1, s. 236-237
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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| 3. |
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| 4. |
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| 5. |
- Khodorkovskii, M. A., et al.
(författare)
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Electronic spectra of ArXe molecules in the region of Xe* (5d, 7s, 7p, 6p '), 80 300-89 500 cm(-1), using resonantly enhanced multiphoton ionization
- 2010
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Ingår i: Journal of Physics B. - : IOP Publishing. - 0953-4075 .- 1361-6455. ; 43:23, s. 235101-
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Tidskriftsartikel (refereegranskat)abstract
- The electronic spectra of ArXe molecules in the 80 300-89 500 cm(-1) region were recorded by (2 + n) and (3 + n) REMPI methods. The vibrational progressions attributed to transitions of molecules from the ground state to the bounded excited state and wide unstructured bands related to transitions to the continuous upper state were obtained. The molecular constants of ArXe* were calculated for all the observed progressions in the 80 300-87 000 cm(-1) region as an approximation of an anharmonic oscillator and the Morse potential. For different excited states the energy of harmonic oscillator and the dissociation energy are changed from 10 to 100 cm(-1) and from 70 to 750 cm(-1), respectively.
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| 6. |
- Khodorkovskii, M. A., et al.
(författare)
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Electronic spectra of ArXe molecules in the region of Xe* (6s ', 6p, 5d), 77 000-80 200 cm(-1), using resonantly enhanced multiphoton ionization
- 2010
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Ingår i: Journal of Physics B. - : IOP Publishing. - 0953-4075 .- 1361-6455. ; 43:15, s. 155101-
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Tidskriftsartikel (refereegranskat)abstract
- The excited electronic states of ArXe molecules in the region 77 000-80 200 cm(-1) were studied using the (2+1) and (3+1) resonance-enhanced multiphoton ionization methods. The use of different methods of multi-photon excitation and Ar+ ion registration allowed us to obtain some new data. Molecular constants were obtained for previously unknown excited states of molecules with the following dissociation limits: ArXe* -> (ArS0)-S-1+Xe*6p[5/2](3) with Omega = 2, 3 symmetry; (ArS0)-S-1+Xe*6p[3/2](2) with Omega = 1, 2 symmetry; (XeS1)-S-0 -> Xe*6s'[1/2](1)(0) with Omega = 0(+) symmetry.
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| 7. |
- Khodorkovskii, M. A., et al.
(författare)
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Electronic spectra of XeNe molecules in the range 77100-90100 cm(-1) near Xe* (6p, 5d, 6p', 7s, 7p, 6d) obtained by the (3+1) REMPI and (2+1) REMPI methods
- 2010
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Ingår i: Optics and Spectroscopy. - 0030-400X .- 1562-6911. ; 108:6, s. 899-914
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Tidskriftsartikel (refereegranskat)abstract
- The electronic spectra of XeNe molecules in the range of 77100-90100 cm(-1) are measured by the method of laser resonance multiphoton ionization in a supersonic jet. The photoionization spectra are obtained upon two- and three-photon excitations of molecules and their ionization by the next photon. In the range of 80300-90100 cm(-1) near Xe*(5d, 6p', 6d, 7s, and 7p), the spectra are obtained for the first time. A whole number of vibrational systems are measured in this range. The majority of vibrational systems near Xe* (5d, 6d, 7p, and 7s) are located in the red range with respect to their dissociation limits. In the blue range with respect to the dissociation limits, continua corresponding to transitions of molecules from the ground state to repulsive potential curves of excited states are detected. For a number of excited states of XeNe molecules, the vibrational analysis is performed and molecular constants are estimated.
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| 8. |
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| 9. |
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| 10. |
- Hammarsjö, A., et al.
(författare)
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High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
- 2021
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Ingår i: Journal of Human Genetics. - : Springer Nature. - 1434-5161 .- 1435-232X. ; 66:10, s. 995-1008
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Tidskriftsartikel (refereegranskat)abstract
- Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.
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