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GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why? [electronic resource] by
- Schuurmans, Juliette
- Birnie, Erwin
- Ranchor, Adelita V
- Abbott, Kristin M
- Fenwick, Angela
- Lucassen, Anneke
- Berger, Marjolein Y
- Verkerk, Marian
- van Langen, Irene M
- Plantinga, Mirjam
Producer: 20210202
In:
European journal of human genetics : EJHG vol. 28
Availability: No items available.
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Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases. [electronic resource] by
- Plantinga, Mirjam
- Birnie, Erwin
- Abbott, Kristin M
- Sinke, Richard J
- Lucassen, Anneke M
- Schuurmans, Juliette
- Kaplan, Seyma
- Verkerk, Marian A
- Ranchor, Adelita V
- van Langen, Irene M
Producer: 20170616
In:
European journal of human genetics : EJHG vol. 24
Availability: No items available.
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7.
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Feasibility of couple-based expanded carrier screening offered by general practitioners. [electronic resource] by
- Schuurmans, Juliette
- Birnie, Erwin
- van den Heuvel, Lieke M
- Plantinga, Mirjam
- Lucassen, Anneke
- van der Kolk, Dorina M
- Abbott, Kristin M
- Ranchor, Adelita V
- Diemers, Agnes D
- van Langen, Irene M
Producer: 20200612
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
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8.
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Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels. [electronic resource] by
- Deelen, Patrick
- Zhernakova, Daria V
- de Haan, Mark
- van der Sijde, Marijke
- Bonder, Marc Jan
- Karjalainen, Juha
- van der Velde, K Joeri
- Abbott, Kristin M
- Fu, Jingyuan
- Wijmenga, Cisca
- Sinke, Richard J
- Swertz, Morris A
- Franke, Lude
Producer: 20150508
In:
Genome medicine vol. 7
Availability: No items available.
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GAVIN: Gene-Aware Variant INterpretation for medical sequencing. [electronic resource] by
- van der Velde, K Joeri
- de Boer, Eddy N
- van Diemen, Cleo C
- Sikkema-Raddatz, Birgit
- Abbott, Kristin M
- Knopperts, Alain
- Franke, Lude
- Sijmons, Rolf H
- de Koning, Tom J
- Wijmenga, Cisca
- Sinke, Richard J
- Swertz, Morris A
Producer: 20170707
In:
Genome biology vol. 18
Availability: No items available.
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10.
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Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. [electronic resource] by
- van der Velde, K Joeri
- Kuiper, Joël
- Thompson, Bryony A
- Plazzer, John-Paul
- van Valkenhoef, Gert
- de Haan, Mark
- Jongbloed, Jan D H
- Wijmenga, Cisca
- de Koning, Tom J
- Abbott, Kristin M
- Sinke, Richard
- Spurdle, Amanda B
- Macrae, Finlay
- Genuardi, Maurizio
- Sijmons, Rolf H
- Swertz, Morris A
Producer: 20160322
In:
Human mutation vol. 36
Availability: No items available.
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11.
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Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy. [electronic resource] by
- Herkert, Johanna C
- Abbott, Kristin M
- Birnie, Erwin
- Meems-Veldhuis, Martine T
- Boven, Ludolf G
- Benjamins, Marloes
- du Marchie Sarvaas, Gideon J
- Barge-Schaapveld, Daniela Q C M
- van Tintelen, J Peter
- van der Zwaag, Paul A
- Vos, Yvonne J
- Sinke, Richard J
- van den Berg, Maarten P
- van Langen, Irene M
- Jongbloed, Jan D H
Producer: 20190213
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
Availability: No items available.
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12.
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Rapid Targeted Genomics in Critically Ill Newborns. [electronic resource] by
- van Diemen, Cleo C
- Kerstjens-Frederikse, Wilhelmina S
- Bergman, Klasien A
- de Koning, Tom J
- Sikkema-Raddatz, Birgit
- van der Velde, Joeri K
- Abbott, Kristin M
- Herkert, Johanna C
- Löhner, Katharina
- Rump, Patrick
- Meems-Veldhuis, Martine T
- Neerincx, Pieter B T
- Jongbloed, Jan D H
- van Ravenswaaij-Arts, Conny M
- Swertz, Morris A
- Sinke, Richard J
- van Langen, Irene M
- Wijmenga, Cisca
Producer: 20171012
In:
Pediatrics vol. 140
Availability: No items available.
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13.
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Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. [electronic resource] by
- Fokkema, Ivo F A C
- van der Velde, Kasper J
- Slofstra, Mariska K
- Ruivenkamp, Claudia A L
- Vogel, Maartje J
- Pfundt, Rolph
- Blok, Marinus J
- Lekanne Deprez, Ronald H
- Waisfisz, Quinten
- Abbott, Kristin M
- Sinke, Richard J
- Rahman, Rubayte
- Nijman, Isaäc J
- de Koning, Bart
- Thijs, Gert
- Wieskamp, Nienke
- Moritz, Ruben J G
- Charbon, Bart
- Saris, Jasper J
- den Dunnen, Johan T
- Laros, Jeroen F J
- Swertz, Morris A
- van Gijn, Marielle E
Producer: 20200504
In:
Human mutation vol. 40
Availability: No items available.
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14.
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Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis. [electronic resource] by
- Deelen, Patrick
- van Dam, Sipko
- Herkert, Johanna C
- Karjalainen, Juha M
- Brugge, Harm
- Abbott, Kristin M
- van Diemen, Cleo C
- van der Zwaag, Paul A
- Gerkes, Erica H
- Zonneveld-Huijssoon, Evelien
- Boer-Bergsma, Jelkje J
- Folkertsma, Pytrik
- Gillett, Tessa
- van der Velde, K Joeri
- Kanninga, Roan
- van den Akker, Peter C
- Jan, Sabrina Z
- Hoorntje, Edgar T
- Te Rijdt, Wouter P
- Vos, Yvonne J
- Jongbloed, Jan D H
- van Ravenswaaij-Arts, Conny M A
- Sinke, Richard
- Sikkema-Raddatz, Birgit
- Kerstjens-Frederikse, Wilhelmina S
- Swertz, Morris A
- Franke, Lude
Producer: 20190819
In:
Nature communications vol. 10
Availability: No items available.
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15.
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Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. [electronic resource] by
- Beunders, Gea
- Voorhoeve, Els
- Golzio, Christelle
- Pardo, Luba M
- Rosenfeld, Jill A
- Talkowski, Michael E
- Simonic, Ingrid
- Lionel, Anath C
- Vergult, Sarah
- Pyatt, Robert E
- van de Kamp, Jiddeke
- Nieuwint, Aggie
- Weiss, Marjan M
- Rizzu, Patrizia
- Verwer, Lucilla E N I
- van Spaendonk, Rosalina M L
- Shen, Yiping
- Wu, Bai-lin
- Yu, Tingting
- Yu, Yongguo
- Chiang, Colby
- Gusella, James F
- Lindgren, Amelia M
- Morton, Cynthia C
- van Binsbergen, Ellen
- Bulk, Saskia
- van Rossem, Els
- Vanakker, Olivier
- Armstrong, Ruth
- Park, Soo-Mi
- Greenhalgh, Lynn
- Maye, Una
- Neill, Nicholas J
- Abbott, Kristin M
- Sell, Susan
- Ladda, Roger
- Farber, Darren M
- Bader, Patricia I
- Cushing, Tom
- Drautz, Joanne M
- Konczal, Laura
- Nash, Patricia
- de Los Reyes, Emily
- Carter, Melissa T
- Hopkins, Elizabeth
- Marshall, Christian R
- Osborne, Lucy R
- Gripp, Karen W
- Thrush, Devon Lamb
- Hashimoto, Sayaka
- Gastier-Foster, Julie M
- Astbury, Caroline
- Ylstra, Bauke
- Meijers-Heijboer, Hanne
- Posthuma, Danielle
- Menten, Björn
- Mortier, Geert
- Scherer, Stephen W
- Eichler, Evan E
- Girirajan, Santhosh
- Katsanis, Nicholas
- Groffen, Alexander J
- Sistermans, Erik A
Producer: 20130404
In:
American journal of human genetics vol. 92
Availability: No items available.
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