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1 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
The role of TBX18 in congenital heart defects in humans not confirmed
저자
by
Engwerda, Aafke
;
Abbott, Kristin M.
;
Hitzert, Marrit M.
;
van Ravenswaaij-Arts, Conny M. A.
;
Kerstjens-Frederikse, Wilhelmina S.
.
소스
European Journal of Human Genetics
. 31(2):138-141
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7 . Academic Journal
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
저자
by
Pagnamenta, Alistair T.
;
Jackson, Adam
;
Perveen, Rahat
;
Beaman, Glenda
;
Petts, Gemma
, et al.
소스
Clinical Genetics
. Jan2022, Vol. 101 Issue 1, p127-133. 7p.
Web of Science
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7 .
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
저자
by
Yaldiz, Burcu
;
Kucuk, Erdi
;
Hampstead, Juliet
;
Hofste, Tom
;
Pfundt, Rolph
, et al.
소스
Open Access (OpenAIRE)
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7 . Academic Journal
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
저자
by
Elsink, Kim
;
Huibers, Manon M. H.
;
Hollink, Iris H. I. M.
;
Simons, Annet
;
Zonneveld-Huijssoon, Evelien
, et al.
소스
Frontiers in Immunology; 12/21/2021, Vol. 12, p1-11, 11p
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7 . Academic Journal
A pipeline‐friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature.
저자
by
Velde, K. Joeri
;
Hoek, Sander
;
Dijk, Freerk
;
Hendriksen, Dennis
;
Diemen, Cleo C.
, et al.
소스
Advanced Genetics
. Dec2020, Vol. 1 Issue 1, p1-8. 8p.
Open Access (Wiley)
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7 . Academic Journal
Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions
저자
by
Birnie, Erwin
;
Schuurmans, Juliette
;
Plantinga, Mirjam
;
Abbott, Kristin M.
;
Fenwick, Angela
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(9):1761-1768
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7 . Periodical
The role of TBX18in congenital heart defects in humans not confirmed
저자
by
Engwerda, Aafke
;
Abbott, Kristin M.
;
Hitzert, Marrit M.
;
van Ravenswaaij-Arts, Conny M. A.
;
Kerstjens-Frederikse, Wilhelmina S.
.
소스
European Journal of Human Genetics: EJHG; 20220101, Issue: Preprints p1-4, 4p
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7 . Academic Journal
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies
저자
by
Elsink, Kim
;
Huibers, Manon M. H.
;
Hollink, Iris H. I. M.
;
van der Veken, Lars T.
;
Ernst, Robert F.
, et al.
소스
European Journal of Human Genetics
. 29(1):20-28
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7 . Academic Journal
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
저자
by
Fokkema, Ivo F. A. C.
;
Velde, Kasper J.
;
Slofstra, Mariska K.
;
Ruivenkamp, Claudia A. L.
;
Vogel, Maartje J.
, et al.
소스
Human Mutation; Dec2019, Vol. 40 Issue 12, p2230-2238, 9p
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