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1
The GA4GH Phenopacket schema defines a computable representation of clinical data

von Jacobsen, JOB ; Baudis, M ; Baynam, GS ; et al.

Nature Biotechnology , 40 (6) pp. 817-820. (2022)
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2
GA4GH: International policies and standards for data sharing across genomic research and healthcare

von Rehm, HL ; Page, AJH ; Smith, L ; et al.
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3
Genome-wide association study identifies 48 common genetic variants associated with handedness

von Cuellar-Partida, G ; Tung, JY ; Eriksson, N ; et al.

Cuellar-Partida, G, Tung, JY, Eriksson, N, Albrecht, E, Aliev, F, Andreassen, OA, Barroso, I, Beckmann, JS, Boks, M P, Boomsma, DI, Boyd, HA, Breteler, M, Campbell, H, Chasman, DI, Cherkas, LF, Davies, G, de Geus, EJCN, Deary, IJ, Deloukas, P, Dick, DM, Duffy, DL, Eriksson, JG, Esko, T, Feenstra, B, Geller, F, Gieger, C, Giegling, I, Gordon, SD, Han, J, Hansen, TF, Hartmann, AM, Hayward, C, Heikkilä, K, Hicks, AA, Hirschhorn, JN, Hottenga, JJ, Huffman, JE, Hwang, LD, Ikram, A, Kaprio, J, Kemp, JP, Khaw, KTH, Klopp, N, Konte, B, Kutalik, Z, Lahti, J, Li, X, Loos, RJ, Luciano, ....

Schlagworte: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01; name=EMC OR-01
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4
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

von Loviglio, M. N ; Leleu, M. ; Männik, K. ; et al.

Schlagworte: Molecular Biology; Cellular and Molecular Neuroscience; Psychiatry and Mental Health
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5
The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) consortia: design, results and future prospects

von Middeldorp, CM ; Mahajan, A ; Horikoshi, M ; et al.
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6
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (vol 11, e1005378, 2015)

von Winkler, TW ; Justice, AE ; Graff, M ; et al.
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7
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.

von Macé, A ; Tuke, MA ; Deelen, P ; et al.

Schlagworte: Anthropometry; Body Height; Body Mass Index; Body Size; Body Weight; Chromosomes; Human; Pair 1; Pair 11; Pair 16; Pair 18; Pair 22; Pair 3; Pair 7; DNA Copy Number Variations; European Continental Ancestry Group; Genome-Wide Association Study; Genotype; Humans; Phenotype; Waist-Hip Ratio
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8
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

von Mace, A ; Tuke, MA ; Deelen, P ; et al.

Nature Communications , 8 , Article 744. (2017)

Schlagworte: Science & Technology; Multidisciplinary Sciences; Science & Technology - Other Topics; WILLIAMS-BEUREN-SYNDROME; BODY-MASS INDEX; DELETION SYNDROME; VARIANTS; SNP; MICRODUPLICATION; 16P11.2; COMMON; GENES; HERITABILITY
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9
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.

von Maillard AM ; Ruef A ; Pizzagalli F ; et al.

Schlagworte: Adolescent; Adult; Anthropometry; Arabidopsis Protein; Autistic Disorder; Body Mass Index; Brain; Brain Mapping; Child; Chromosomes; Human; Pair 16; DNA Copy Number Variation; Female; Gene Dosage; Genetic Association Studie; Intramolecular Transferase; Male; Middle Aged; Obesity; Phenotype; Psychiatric Status Rating Scale; Schizophrenia; Young Adult
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10
Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

von Randall, JC ; Winkler, TW ; Kutalik, Z ; et al.
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11
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

von Winkler, TW ; Justice, AE ; Graff, M ; et al.

Winkler, TW, Justice, AE, Graff, M, Barata, L, Feitosa, MF, Chu, S, Czajkowski, J, Esko, T, Fall, T, Kilpelainen, TO, Lu, YC, Magi, R, Mihailov, E, Pers, TH, Rueger, S, Teumer, A, Ehret, GB, Ferreira, T, Heard-Costa, NL, Karjalainen, J, Lagou, V, Mahajan, A, Neinast, MD, Prokopenko, I, Simino, J, Teslovich, TM, Jansen, R, Westra, HJ, White, CC, Absher, D, Ahluwalia, TS, Ahmad, S, Albrecht, E, Alves, AC, Bragg-Gresham, JL, de Craen, AJM, Bis, JC, Bonnefond, A, Boucher, G, Cadby, G, Cheng, YC, Chiang, CWK, Delgado, G, Demirkan, A, Dueker, N, Eklund, N, Eiriksdottir, G, Eriksson, J, Feenstra, B, ....

Schlagworte: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES016402; name=EMC NIHES-01-64-02; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR013908; name=EMC OR-01-39-08
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12
Biological interpretation of genome-wide association studies using predicted gene functions

von Pers TH ; Karjalainen JM ; Chan Y ; et al.

Schlagworte: Biochemistry; Genetics and Molecular Biology (all); Settore BIOS-09/A - Biochimica clinica e biologia molecolare clinica
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13
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

von Migliavacca E ; Golzio C ; Männik K ; et al.

Schlagworte: Settore BIO/18 - Genetica
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14
The SIB Swiss Institute of bioinformatics' resources: Focus on curated databases

von Bultet, LA ; Aguilar-Rodríguez, J ; Ahrens, CH ; et al.
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15
Genome-Wide Meta-Analysis for Serum Calcium Identifies Significantly Associated SNPs near the Calcium-Sensing Receptor (CASR) Gene

von Kapur, K ; Johnson, T ; Beckmann, ND ; et al.

Schlagworte: Science & Technology; Life Sciences & Biomedicine; Genetics & Heredity; BONE-MINERAL DENSITY; CORONARY-HEART-DISEASE; PRIMARY HYPERPARATHYROIDISM; HYPOCALCIURIC HYPERCALCEMIA; CARDIOVASCULAR MORTALITY; MYOCARDIAL-INFARCTION; A986S POLYMORPHISM; COMMON VARIANT; ADULT; LOCI; Calcium; European Continental Ancestry Group; Genome; Human; Genome-Wide Association Study; Humans; Polymorphism; Single Nucleotide; Receptors; Calcium-Sensing; Developmental Biology; 0604 Genetics
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16
Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

von Hoggart, CJ ; Venturini, G ; Mangino, M ; et al.

PLOS GENETICS ; ISSN: 1553-7390

Schlagworte: Biology and Life Sciences; CHILDREN; ASSOCIATIONS; OBESITY; LINKAGE ANALYSIS; QUANTITATIVE TRAIT LOCI; VARIANCES; FAMILIES; GENES; ALCOHOLISM; PENETRANCE
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17
Rare Genomic Structural Variants in Complex Disease: Lessons from the Replication of Associations with Obesity

von Walters, RG ; Coin, LJM ; Ruokonen, A ; et al.
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18
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

von Manning, AK ; Hivert, MF ; Scott, RA ; et al.

Manning, AK, Hivert, MF, Scott, RA, Grimsby, JL, Bouatia-Naji, N, Chen, H, Rybin, D, Liu, CT, Bielak, LF, Prokopenko, I, Amin, N, Barnes, D, Cadby, G, Hottenga, JJ, Ingelsson, E, Jackson, AU, Johnson, T, Kanoni, S, Ladenvall, C, Lagou, V, Lahti, J, Lecoeur, C, Liu, YM, Martinez-Larrad, MT, Montasser, ME, Navarro, P, Perry, JRB, Rasmussen-Torvik, LJ, Salo, P, Sattar, N, Shungin, D, Strawbridge, RJ, Tanaka, T, Duijn, C, An, P, de Andrade, M, Andrews, JS, Aspelund, T, Atalay, M, Aulchenko, Y, Balkau, B, Bandinelli, S, Beckmann, JS, Beilby, JP, Bellis, C, Bergman, RN, Blangero, J, Boban, M, Boehnke, M, ....

Schlagworte: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCCOEUR09; name=EMC COEUR-09; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601; name=EMC MGC-02-96-01; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM013909A; name=EMC MM-01-39-09-A; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES016401; name=EMC NIHES-01-64-01; /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES016402; name=EMC NIHES-01-64-02; /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being; name=SDG 3 - Good Health and Well-being
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19
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

von Zufferey, F ; Sherr, EH ; Beckmann, ND ; et al.
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20
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

von Maillard, AM ; Ruef, A ; Pizzagalli, F ; et al.
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21
Common genetic variation and the control of HIV-1 in humans.

von Fellay J ; Ge D ; Shianna KV ; et al.

Schlagworte: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1 (HIV-1); CD4(+) cell; genetic control
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22
The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

von Winkler TW ; Justice AE ; Graff M ; et al.
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23
Abstract of the 68th Meeting (Spring Meeting) 6–9 March 1990, Heidelberg

von Sakmann, B. ; Schrader, J. ; Brenner, B. ; et al.

Pflügers Archiv: European Journal of Physiology. December 1990 415(1):R1-R119
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24
Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

von Randall, JC ; Winkler, TW ; Kutalik, Z ; et al.

PLoS Genetics , 9 (6) , Article e1003500. (2013)
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25
Genome-wide meta-analysis of common variant differences between men and women

von Boraska, V ; Jeroncic, A ; Colonna, V ; et al.

4815 ; 4805

Schlagworte: Science & Technology; Life Sciences & Biomedicine; Biochemistry & Molecular Biology; Genetics & Heredity; SEX-RATIO; ASSOCIATION; SIMULATION; GENES; BIRTH; TIME; European Continental Ancestry Group; Female; Gene Frequency; Genome-Wide Association Study; Humans; Male; Models; Genetic; Polymorphism; Single Nucleotide; Sex Factors; Sex Ratio; Sexism; Wellcome Trust Case Control Consortium; 06 Biological Sciences; 11 Medical and Health Sciences
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