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Riess, Olaf
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1

Blood and cerebellar abundance of ATXN3 splice variants in ..:

Raposo, Mafalda ; Hübener-Schmid, Jeannette ; Tagett, Rebecca...
Neurobiology of Disease.  193 (2024)  - p. 106456 , 2024
Link: https://doi.org/10.1016/..
 
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2

Augmenting MEK inhibitor efficacy in BRAF wild-type melanom..:

Meraz-Torres, Francisco ; Niessner, Heike ; Plöger, Sarah...
Journal of Experimental & Clinical Cancer Research.  43 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

A GGC-repeat expansion in ZFHX3 encoding polyglycine causes..:

Figueroa, Karla P. ; Gross, Caspar ; Buena-Atienza, Elena...
Nature Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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4

Stratified analyses refine association between TLR7 rare va..:

Boos, Jannik ; van der Made, Caspar I. ; Ramakrishnan, Gayatri...
Human Genetics and Genomics Advances.  , 2024
Link: https://doi.org/10.1016/..
 
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5

RFC1 repeat expansions in downbeat nystagmus syndromes: fre..:

Pellerin, David ; Heindl, Felix ; Traschütz, Andreas...
Journal of Neurology.  271 (2024)  5 - p. 2886-2892 , 2024
Link: https://doi.org/10.1007/..
 
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6

Resequencing the complete SNCA locus in Indian patients wit..:

Kishore, Asha ; Sturm, Marc ; Soman Pillai, Kanchana...
npj Parkinson's Disease.  10 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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7

Model matchmaking via the Solve-RD Rare Disease Models & Me..:

Ellwanger, Kornelia ; Brill, Julie A. ; de Boer, Elke...
Lab Animal.  53 (2024)  7 - p. 161-165 , 2024
Link: https://doi.org/10.1038/..
 
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8

Genomes in clinical care:

Riess, Olaf ; Sturm, Marc ; Menden, Benita...
npj Genomic Medicine.  9 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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9

A Novel PINK1 p.F385S Loss‐of‐Function Mutation in an India..:

Sharma, Karan ; Kishore, Asha ; Lechado‐Terradas, Anna...
Movement Disorders.  39 (2024)  7 - p. 1217-1225 , 2024
Link: https://doi.org/10.1002/..
 
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10

Frequency and Phenotype ofRFC1Repeat Expansions in Bilatera..:

Traschütz, Andreas ; Heindl, Felix ; Bilal, Muhammad...
Neurology.  101 (2023)  10 - p. , 2023
Link: https://doi.org/10.1212/..
 
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11

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

Yaldiz, Burcu ; Kucuk, Erdi ; Hampstead, Juliet...
Human Genomics.  17 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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12

Detection of circulating cell-free HPV DNA of 13 HPV types ..:

Mittelstadt, Suzana ; Kelemen, Olga ; Admard, Jakob...
British Journal of Cancer.  128 (2023)  11 - p. 2097-2103 , 2023
Link: https://doi.org/10.1038/..
 
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13

Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia..:

Faber, Jennifer ; Berger, Moritz ; Wilke, Carlo...
Annals of Neurology.  95 (2023)  2 - p. 400-406 , 2023
Link: https://doi.org/10.1002/..
 
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14

Implications of specific lysine residues within ataxin-3 fo..:

Pereira Sena, Priscila ; Weber, Jonasz Jeremiasz ; Bayezit, Sercan...
Frontiers in Molecular Neuroscience.  16 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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15

Clinical trio genome sequencing facilitates the interpretat..:

Schroeder, Christopher ; Faust, Ulrike ; Krauße, Luisa...
European Journal of Human Genetics.  31 (2023)  10 - p. 1139-1146 , 2023
Link: https://doi.org/10.1038/..
 
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