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Beijer, Danique
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1

Standards of NGS Data Sharing and Analysis in Ataxias: Reco..:

Beijer, Danique ; Fogel, Brent L ; Beltran, Sergi...
info:eu-repo/semantics/altIdentifier/issn/1473-4222.  , 2023
Link: https://pub.dzne.de/reco..
 
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2

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
https://doi.org/10.1016/j.gim.2023.100018.  , 2023
Link: http://orbilu.uni.lu/han..
 
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3

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cere..:

Pellerin, David ; Danzi, Matt C ; Wilke, Carlo...
https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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4

Twist exome capture allows for lower average sequence cover..:

Yaldiz, Burcu ; Kucuk, Erdi ; Hampstead, Juliet...
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5.  , 2023
Link: http://orbilu.uni.lu/han..
 
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5

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cere..:

Pellerin, David ; Danzi, Matt C ; Wilke, Carlo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10042577/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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6

Genetic landscape of congenital insensitivity to pain and h..:

Lischka, Annette ; Eggermann, Katja ; Record, Christopher J...
https://discovery.ucl.ac.uk/id/eprint/10181008/1/awad328.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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7

Heterozygous POLG variant Ser1181Asn is associated with aut..:

Dohrn, Maike F ; Beijer, Danique ; Mulahasanovic, Lejla
info:eu-repo/semantics/altIdentifier/doi/10.1186/s42466-022-00197-6.  , 2022
Link: https://publications.rwt..
 
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8

De novo and dominantly inherited SPTAN1 mutations cause Spa..:

Van de Vondel, Liedewei ; De Winter, Jonathan ; Beijer, Danique...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9232883/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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9

Heterozygous POLG variant Ser1181Asn co-segregating in a fa..:

Dohrn, Maike F ; Heller, Corina ; Zengeler, Diana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8805222/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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10

Heterozygous POLG variant Ser1181Asn co-segregating in a fa..:

Dohrn, Maike F ; Heller, Corina ; Winter, Natalie...
info:eu-repo/semantics/altIdentifier/pmid/pmid:35101151.  , 2022
Link: https://publications.rwt..
 
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11

Heterozygous POLG variant Ser1181Asn is associated with aut..:

Dohrn, Maike F ; Beijer, Danique ; Mulahasanovic, Lejla
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272550/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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12

RFC1 repeat expansions: A recurrent cause of sensory and au..:

Beijer, Danique ; Dohrn, Maike F ; De Winter, Jonathan...
https://discovery.ucl.ac.uk/id/eprint/10145678/1/Euro%20J%20of%20Neurology%20-%202022%20-%20Beijer.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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13

Mutations in MYO9B are associated with Charcot–Marie–Tooth ..:

Cipriani, Silvia ; Guerrero‐Valero, Marta ; Tozza, Stefano...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10099703/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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14

Solving patients with rare diseases through programmatic re..:

Sommer, Anna Katharina ; Paske, Iris Te ; Dizjikan, Farid Yavari...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-021-00852-7.  , 2021
Link: https://hal.sorbonne-uni..
 
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15

Solve-RD: systematic pan-European data sharing and collabor..:

Zurek, Birte ; Ellwanger, Kornelia ; Ossowski, Stephan...
info:eu-repo/semantics/altIdentifier/pmid/pmid:34075208.  , 2021
Link: https://pub.dzne.de/reco..
 
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