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A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

• Authors : Bowne, Sara J.¹; Humphries, Marian M.²; Sullivan, Lori S.¹

• Source: European Journal of Human Genetics. Oct2011, Vol. 19 Issue 10, p1074-1081. 8p. 2 Diagrams, 3 Charts, 2 Graphs.

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Exome sequencing followed by genotyping suggests SYPL2 as a susceptibility gene for morbid obesity.

• Authors : Jiao, Hong¹; Arner, Peter²; Gerdhem, Paul³

• Source: European Journal of Human Genetics. Sep2015, Vol. 23 Issue 9, p1216-1222. 7p.

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Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.

• Authors : Eggers, Stefanie¹; Smith, Katherine R²; Bahlo, Melanie³

• Source: European Journal of Human Genetics. Apr2015, Vol. 23 Issue 4, p486-493. 8p.

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Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population.

• Authors : Li, Shengting¹; Besenbacher, Soren²; Li, Yingrui³

• Source: European Journal of Human Genetics. Aug2014, Vol. 22 Issue 8, p1040-1045. 6p.

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The GENCODE exome: sequencing the complete human exome.

• Authors : Coffey, Alison J.¹; K.okocinski, Felix¹; Calafato, Maria S.¹

• Source: European Journal of Human Genetics. Jul2011, Vol. 19 Issue 7, p827-831. 5p. 2 Charts, 2 Graphs.

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Variation and association to diabetes in 2000 full mtDNA sequences mined from an exome study in a Danish population

• Authors : Niels Grarup; Rasmus Nielsen; Mikkel H. Schierup

Subjects: medicine.medical_specialty; Diabetes risk; Genotype

• Source: Li, S, Besenbacher, S, Li, Y, Kristiansen, K, Grarup, N, Albrechtsen, A, Sparsø, T H, Korneliussen, T S, Hansen, T, Wang, J, Nielsen, R, Pedersen, O, Bolund, L & Schierup, M H 2014, ' Variation and

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The GENCODE exome: sequencing the complete human exome

• Authors : Daniel J. Turner; Alison J. Coffey; Anna-Elina Lehesjoki

Subjects: Sequence analysis; Short Report; Genomics

• Source: European Journal of Human Genetics

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Erratum: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

• Authors : Alex G. McKee; Susan Slifer; Sophia Millington-Ward

Subjects: Male; Models, Molecular; cis-trans-Isomerases

• Source: European Journal of Human Genetics. 19:1109-1109

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