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1 . Academic Journal
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
저자
by
Boer, Elke de
;
Cohen, Enzo
;
Cuesta, Isabel
;
Danis, Daniel
;
Denommé-Pichon, Anne-Sophie
, et al.
소스
In
European Journal of Medical Genetics
January 2022 65(1)
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7 . Academic Journal
Long-read technologies identify a hidden inverted duplication in a family with choroideremia
저자
by
Fadaie, Zeinab
;
Neveling, Kornelia
;
Mantere, Tuomo
;
Derks, Ronny
;
Haer-Wigman, Lonneke
, et al.
소스
In
Human Genetics and Genomics Advances
14 October 2021 2(4)
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7 . Academic Journal
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
저자
by
Kucuk, Erdi
;
van der Sanden, Bart P. G. H.
;
O'Gorman, Luke
;
Kwint, Michael
;
Derks, Ronny
, et al.
소스
Genome Medicine
. 5/8/2023, Vol. 15 Issue 1, p1-15. 15p.
Open Access (BioMed Central)
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7 .
Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65
저자
by
Vázquez-Domínguez, Irene
;
Kwint, Michael
;
Kroes, Hester Y
;
Albert, Silvia
;
O'Gorman, Luke
, et al.
소스
In
Stem Cell Research
April 2022 60
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7 . Academic Journal
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
저자
by
Vázquez-Domínguez, Irene
;
Duijkers, Lonneke
;
Fadaie, Zeinab
;
Alaerds, Eef C. W.
;
Post, Merel A.
, et al.
소스
Cells (2073-4409)
. Nov2022, Vol. 11 Issue 22, p3640. 19p.
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7 . Periodical
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome
저자
by
Viering, Daan H.H.M.
;
Hureaux, Marguerite
;
Neveling, Kornelia
;
Latta, Femke
;
Kwint, Michael
, et al.
소스
Journal of the American Society of Nephrology; February 2023, Vol. 34 Issue: 2 p333-345, 13p
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7 . Periodical
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
저자
by
van der Sanden, Bart P. G. H.
;
Schobers, Gaby
;
Corominas Galbany, Jordi
;
Koolen, David A.
;
Sinnema, Margje
, et al.
소스
European Journal of Human Genetics: EJHG; January 2023, Vol. 31 Issue: 1 p81-88, 8p
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7 . Academic Journal
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
저자
by
Sabatella, Mariangela
;
Mantere, Tuomo
;
Waanders, Esmé
;
Neveling, Kornelia
;
Mensenkamp, Arjen R
, et al.
소스
Journal of Pathology; Oct2021, Vol. 255 Issue 2, p202-211, 10p
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7 . Academic Journal
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
저자
by
Rots, Dmitrijs
;
Chater-Diehl, Eric
;
Dingemans, Alexander J.M.
;
Goodman, Sarah J.
;
Siu, Michelle T.
, et al.
소스
American Journal of Human Genetics
. Jun2021, Vol. 108 Issue 6, p1053-1068. 16p.
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7 . Academic Journal
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
저자
by
Vissers, Lisenka E.L.M.
;
Kalvakuri, Sreehari
;
de Boer, Elke
;
Geuer, Sinje
;
Oud, Machteld
, et al.
소스
American Journal of Human Genetics
. Jul2020, Vol. 107 Issue 1, p164-172. 9p.
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