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Appropriate Safeguards and Article 89 of the GDPR:Considerations for Biobank, Databank and Genetic Research

• Authors : Staunton, Ciara; Slokenberga, Santa; Parziale, Andrea

Subjects: GDPR–general data protection regulation; biobank; consent

• Source: Staunton , C , Slokenberga , S , Parziale , A & Mascalzoni , D 2022 , ' Appropriate Safeguards and Article 89 of the GDPR : Considerations for Biobank, Databank and

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Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays

• Authors : Bouwman, Peter; van der Heijden, Ingrid; van der Gulden, Hanneke

Subjects: MISSENSE VARIANTS; SEQUENCE VARIANTS; BREAST-CANCER

• Source: Bouwman , P , van der Heijden , I , van der Gulden , H , de Bruijn , R , Braspenning , M E , Moghadasi , S , Wessels , L F A , Vreeswijk , M P G , Jonkers , J , Blok , M & Dutch-Belgian VUS workgroup

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EURO-NMD registry:federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

• Authors : Atalaia, Antonio; Wandrei, Dagmar; Lalout, Nawel

Subjects: FAIR data; Neuromuscular Diseases; Rare Diseases

• Source: Atalaia , A , Wandrei , D , Lalout , N , Thompson , R , Tassoni , A , 't Hoen , P A C , Athanasiou , D , Baker , S-A , Sakellariou , P , Paliouras , G , D'Angelo , C , Horvath , R , Mancuso , M , van

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Fructose intake from sugar-sweetened beverages is associated with a greater risk of hyperandrogenism in women:UK Biobank cohort study

• Authors : Chen, Huadong; Buziau, Amee M.; Renteria, Miguel E.

Subjects: fructose intake; testosterone; sex hormone-binding globulin

• Source: Chen , H , Buziau , A M , Renteria , M E , Simons , P I H G & Brouwers , M C G J 2024 , ' Fructose intake from sugar-sweetened beverages is associated with a greater risk of hyperandrogenism in women

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Clinical Patterns of Sarcoidosis Patients with and without Uveitis:Insights from a Dutch Sarcoidosis Centre

• Authors : Kuc, Sanela; Wijnen, Petal; Erckens, Roel

Subjects: Genetic predisposition; ocular sarcoidosis; uveitis

• Source: Kuc , S , Wijnen , P , Erckens , R , Gijs , M , Webers , C A B , Bekers , O & Drent , M 2024 , ' Clinical Patterns of Sarcoidosis Patients with and without Uveitis : Insights from a Dutch Sarcoidosis

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Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

• Authors : Blackburn, Patrick R; Ebstein, Frédéric; Hsieh, Tzung-Chien

• Source: Blackburn , P R , Ebstein , F , Hsieh , T-C , Motta , M , Radio , F C , Herkert , J C , Rinne , T , Thiffault , I , Rapp , M , Alders , M , Maas , S , Gerard , B , Smol , T , Vincent-Delorme , C ,

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Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

• Authors : Mannucci, I.; Dang, N.D.P.; Huber, H.

Subjects: RNA HELICASE; INTELLECTUAL DISABILITY; MEDICAL GENETICS

• Source: Mannucci , I , Dang , N D P , Huber , H , Murry , J B , Abramson , J , Althoff , T , Banka , S , Baynam , G , Bearden , D , Beleza-Meireles , A , Benke , P J , Berland , S , Bierhals , T , Bilan , F ,

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Deep learning detects genetic alterations in cancer histology generated by adversarial networks

• Authors : Krause, Jeremias; Grabsch, Heike; Kloor, Matthias

Subjects: digital pathology; microsatellite instability; deep learning

• Source: Krause , J , Grabsch , H , Kloor , M , Jendrusch , M , Echle , A , Buelow , R D , Boor , P , Luedde , T , Brinker , T J , Trautwein , C , Pearson , A T , Quirke , P , Jenniskens , J , Offermans , K ,

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The impact of gender, puberty, and pregnancy in patients with POLG disease

• Authors : Hikmat, Omar; Naess, Karin; Engvall, Martin

Subjects: DNA-POLYMERASE-GAMMA; STROKE-LIKE EPISODES; LACTIC-ACIDOSIS

• Source: Hikmat , O , Naess , K , Engvall , M , Klingenberg , C , Rasmussen , M , Tallaksen , C M E , Samsonsen , C , Brodtkorb , E , Ostergaard , E , de Coo , R , Pias-Peleteiro , L , Isohanni , P , Uusimaa ,

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Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

• Authors : van der Meer, Dennis; Sønderby, Ida E; Kaufmann, Tobias

Subjects: SURFACE-AREA; CORTEX; GENES

• Source: van der Meer , D , Sønderby , I E , Kaufmann , T , Walters , G B , Abdellaoui , A , Ames , D , Amunts , K , Andersson , M , Armstrong , N J , Bernard , M , Blackburn , N B , Blangero , J , Boomsma ,

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