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Retinoblastoma caused by an RB1 variant with unusually low penetrance in a Danish family

• Authors : Gregersen, Pernille A.; Jensen, Peter S.; Christensen, Rikke

Subjects: Genetic counseling; RB1; Reduced penetrance

• Source: Gregersen , P A , Jensen , P S , Christensen , R , Lohmann , D , Racher , H , Gallie , B & Urbak , S F 2024 , ' Retinoblastoma caused by an RB1 variant with unusually low

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Loss of Adgra3 causes obstructive azoospermia with high penetrance in male mice

• Authors : Nybo, Maja L.; Kvam, Jone M.; Nielsen, John E.

Subjects: adhesion G protein-coupled receptor; ejaculatory duct; ejaculatory duct obstruction

• Source: Nybo , M L , Kvam , J M , Nielsen , J E , Frederiksen , H , Spiess , K , Jensen , K H R , Gadgaard , S , Walser , A L S , Thomsen , J S , Cowin , P , Juul , A , Jensen , M B & Rosenkilde , M M 2023 ,

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Global Presence and Penetrance of CSF1R-Related Disorder

• Authors : Dulski, Jaroslaw; Baker, Matthew; Banks, Samantha A.

• Source: Dulski , J , Baker , M , Banks , S A , Bayat , M , Bruffaerts , R , Cruz , G O , Disserol , C C , Fisher , K S , Jose , J N , Kalman , B , Kantarci , O H , Maltsev , D , Middleton , C , Novotni , G ,

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No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2 :A prospective lynch syndrome database study

• Authors : Dominguez-Valentin, Mev; Plazzer, John Paul; Sampson, Julian R.

Subjects: Aberrant splicing; Cancer incidence; Lynch syndrome

• Source: Dominguez-Valentin , M , Plazzer , J P , Sampson , J R , Engel , C , Aretz , S , Jenkins , M A , Sunde , L , Bernstein , I , Capella , G , Balaguer , F , Macrae , F , Winship , I M , Thomas , H ,

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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

• Authors : Goodrich, Julia K.; Singer-Berk, Moriel; Son, Rachel

• Source: Goodrich , J K , Singer-Berk , M , Son , R , Sveden , A , Wood , J , England , E , Cole , J B , Weisburd , B , Watts , N , Caulkins , L , Dornbos , P , Koesterer , R , Zappala , Z , Zhang , H ,

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Penetrance of hypertrophic cardiomyopathy in children and adolescents:A 12-year follow-up study of clinical screening and predictive genetic testing

• Authors : Jensen, Morten K.; Havndrup, Ole; Christiansen, Michael

Subjects: child; echocardiography; genetic testing

• Source: Jensen , M K , Havndrup , O , Christiansen , M , Andersen , P S , Diness , B , Axelsson , A , Skovby , F , Køber , L & Bundgaard , H 2013 , ' Penetrance of hypertrophic

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Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy

• Authors : Nielsen, Søren K.; Hansen, Frederikke G.; Rasmussen, Torsten B.

Subjects: cardiomyopathy; follow-up studies; genetic counseling

• Source: Nielsen , S K , Hansen , F G , Rasmussen , T B , Fischer , T , Lassen , J F , Madsen , T , Møller , D S , Klausen , I C , Jensen , M S K & Mogensen , J 2023 , ' Major Cardiac Events in Patients and

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Colorectal cancer incidences in Lynch syndrome:a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

• Authors : Møller, Pål; Seppälä, Toni; Dowty, James G.

Subjects: Colonoscopy; Colorectal cancer; Epidemiology

• Source: Møller , P , Seppälä , T , Dowty , J G , Haupt , S , Dominguez-Valentin , M , Sunde , L , Bernstein , I , Engel , C , Aretz , S , Nielsen , M , Capella , G , Evans , D G , Burn , J , Holinski-Feder

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Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

• Authors : Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils

Subjects: autosomal dominant; common variable immunodeficiency; NF-κB1-related phenotype

• Source: Lorenzini , T , Fliegauf , M , Klammer , N , Frede , N , Proietti , M , Bulashevska , A , Camacho-Ordonez , N , Varjosalo , M , Kinnunen , M , de Vries , E , van der Meer , J W M , Ameratunga , R ,

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Imaging dopamine function and microglia in asymptomatic LRRK2 mutation carriers

• Authors : Stokholm, Morten Gersel; Garrido, Alicia; Tolosa, Eduardo

Subjects: Genetics; Parkinson's disease; Clinical neurology

• Source: Stokholm , M G , Garrido , A , Tolosa , E , Serradell , M , Iranzo , A , Ostergaard , K , Borghammer , P , Moller , A , Parbo , P , Staer , K , Brooks , D J , Jose Marti , M & Pavese , N 2020 , '

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