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SMIM1 absence is associated with reduced energy expenditure and excess weight

• Authors : Stefanucci, Luca; Moslemi, Camous; Tomé, Ana R.

Subjects: blood groups; BMI; dyslipidemia

• Source: Stefanucci, L, Moslemi, C, Tomé, A R, Virtue, S, Bidault, G, Gleadall, N S, Watson, L P E, Kwa, J E, Burden, F, Farrow, S, Chen, J, MAGIC, Võsa, U, Burling, K, Walker, L, Ord, J, Baker, P, Warner, J

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Influence of Streptococcus pneumoniae Within-Strain Population Diversity on Virulence and Pathogenesis

• Authors : Jacques, Laura C; Green, Angharad E; Barton, Thomas E

Subjects: Animals; Mice; Bacterial Proteins/genetics

• Source: Jacques, L C, Green, A E, Barton, T E, Baltazar, M, Aleksandrowicz, J, Xu, R, Trochu, E, Kadioglu, A & Neill, D R 2023, 'Influence of Streptococcus pneumoniae Within-Strain

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The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan Africa

• Authors : Gowans, Lord Jephthah Joojo; Busch, Tamara D.; Mossey, Peter A.

Subjects: Journal article; Craniofacial genetics; Expressivity

• Source: Gowans, L J J, Busch, T D, Mossey, P A, Eshete, M A, Adeyemo, W L, Aregbesola, B, Donkor, P, Arthur, F K N, Agbenorku, P, Olutayo, J, Twumasi, P, Braimah, R, Oti, A A, Plange-Rhule, G, Obiri-Yeboah,

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Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation

• Authors : Christophersen, Ingrid E.; Rienstra, Michiel; Roselli, Carolina

Subjects: Atrial fibrillation; population genetics; genome-wide association studies

• Source: Christophersen, I E, Rienstra, M, Roselli, C, Yin, X, Geelhoed, B, Barnard, J, Lin, H, Arking, D E, Smith, A V, Albert, C M, Chaffin, M, Tucker, N R, Li, M, Klarin, D, Bihlmeyer, N A, Low, S-K, Weeke,

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Timing, rates and spectra of human germline mutation

• Authors : Rahbari, Raheleh; Wuster, Arthur; Lindsay, Sarah J.

Subjects: DNA sequencing; Genomics; Population genetics

• Source: Rahbari, R, Wuster, A, Lindsay, S J, Hardwick, R J, Alexandrov, L B, Al Turki, S, Dominiczak, A, Morris, A, Porteous, D, Smith, B, Stratton, M R, UK10K Consortium & Hurles, M E 2016, 'Timing, rates

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Association studies and direct DNA sequencing implicate some known genetic susceptibility loci in the etiology of nonsyndromic orofacial clefts in sub-Saharan African populations

• Authors : Gowans, Jephthah Joojo; Adeyemo, Wasiu L.; Eshete, Mekonen A.

Subjects: Carniofacial anomalies; Craniofacial biology/genetics; Genetics

• Source: Gowans, J J, Adeyemo, W L, Eshete, M A, Mossey, P, Busch, T, Aregbesola, B, Donkor, P, Arthur, F K N, Bello, S A, Martinez, A, Li, M, Augustine-Akpan, E-A, Deressa, W, Twumasi, P, James, O, M, D,

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Homozygous in-frame deletion in CATSPERE in a man producing spermatozoa with loss of CatSper function and compromised fertilizing capacity

• Authors : Brown, Sean G.; Miller, Melissa R.; Lishko, Polina V.

Subjects: Calcium signaling; CatSper; Infertility

• Source: Brown, S G, Miller, M R, Lishko, P V, Lester, D H, Publicover, S J, Barratt, C L R & Martins Da Silva, S 2018, 'Homozygous in-frame deletion in CATSPERE in a man producing spermatozoa with loss of

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Genome of Leptomonas pyrrhocoris :a high-quality reference for monoxenous trypanosomatids and new insights into evolution of Leishmania

• Authors : Flegontov, Pavel; Butenko, Anzhelika; Firsov, Sergei

Subjects: /dk/atira/pure/subjectarea/asjc/1000; name=General

• Source: Flegontov, P, Butenko, A, Firsov, S, Kraeva, N, Eliáš, M, Field, M C, Filatov, D, Flegontova, O, Gerasimov, E S, Hlaváčová, J, Ishemgulova, A, Jackson, A P, Kelly, S, Kostygov, A Y, Logacheva, M

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Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

• Authors : Laskowski, Roman A.; Tyagi, Nidhi; Johnson, Diana

• Source: Laskowski, R A, Tyagi, N, Johnson, D, Joss, S, Kinning, E, McWilliam, C, Splitt, M, Thornton, J M, Firth, H V & Wright, C F 2016, 'Integrating population variation and

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Structural and temporal variation in genetic diversity of European spring two-row barley cultivars and association mapping of quantitative traits

• Authors : Tondelli, Alessandro; Xu, Xin; Moragues, Marc

Subjects: /dk/atira/pure/subjectarea/asjc/1300/1311; name=Genetics; /dk/atira/pure/subjectarea/asjc/1100/1102

• Source: Tondelli, A, Xu, X, Moragues, M, Sharma, R, Schnaithmann, F, Ingvardsen, C, Manninen, O, Comadran, J, Russell, J, Waugh, R, Schulman, A H, Pillen, K, Rasmussen, S K, Kilian, B, Cattivelli, L, Thomas,

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