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Excess of rare, inherited truncating mutations in autism
Excess of rare, inherited truncating mutations in autism
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Excess of rare, inherited truncating mutations in autism

Krumm, Niklas ; Turner, Tychele N ; Baker, Carl ; Vives, Laura ; Mohajeri, Kiana ; Witherspoon, Kali ; Raja, Archana ; Coe, Bradley P ; Stessman, Holly A ; He, Zong-Xiao ; Leal, Suzanne M ; Bernier, Raphael ; Eichler, Evan E

Nature genetics, 2015-06, Vol.47 (6), p.582-588 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

O'ROAK, Brian J ; DERIZIOTIS, Pelagia ; RIEDER, Mark J ; NICKERSON, Deborah A ; BERNIER, Raphael ; FISHER, Simon E ; SHENDURE, Jay ; EICHLER, Evan E ; LEE, Choli ; VIVES, Laura ; SCHWARTZ, Jerrod J ; GIRIRAJAN, Santhosh ; KARAKOC, Emre ; MACKENZIE, Alexandra P ; NG, Sarah B ; BAKER, Carl

Nature genetics, 2011-06, Vol.43 (6), p.585-589 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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3
A copy number variation morbidity map of developmental delay
A copy number variation morbidity map of developmental delay
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A copy number variation morbidity map of developmental delay

Hamid, Rizwan ; Baker, Carl ; McCracken, Elizabeth ; Stalker, Heather ; Eichler, Evan E ; Hummel, Marybeth ; Ballif, Blake C ; Coe, Bradley P ; Bader, Patricia ; Girirajan, Santhosh ; Kussmann, Jennifer ; Rosenfeld, Jill A ; Cooper, Gregory M ; Shashi, Vandana ; Abdel-Hamid, Hoda ; Williams, Charles ; Leppig, Kathleen ; Alexander, Nora ; Gorski, Jerome ; Niyazov, Dmitriy ; Hannig, Vickie ; Rehder, Catherine ; Shaffer, Lisa G ; Johnson, Krys ; Thiese, Heidi ; Vu, Tiffany H

Nature genetics, 2011-09, Vol.43 (9), p.838-846 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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4
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes
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Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

Ebler, Jana ; Ebert, Peter ; Clarke, Wayne E ; Rausch, Tobias ; Audano, Peter A ; Houwaart, Torsten ; Mao, Yafei ; Korbel, Jan O ; Eichler, Evan E ; Zody, Michael C ; Dilthey, Alexander T ; Marschall, Tobias

Nature genetics, 2022-04, Vol.54 (4), p.518-525 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
Personalized copy number and segmental duplication maps using next-generation sequencing
Personalized copy number and segmental duplication maps using next-generation sequencing
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Personalized copy number and segmental duplication maps using next-generation sequencing

Eichler, Evan E ; Alkan, Can ; Kidd, Jeffrey M ; Marques-Bonet, Tomas ; Aksay, Gozde ; Antonacci, Francesca ; Hormozdiari, Fereydoun ; Kitzman, Jacob O ; Baker, Carl ; Malig, Maika ; Mutlu, Onur ; Sahinalp, S Cenk ; Gibbs, Richard A

Nature genetics, 2009-10, Vol.41 (10), p.1061-1067 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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6
The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution
The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution
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The sea lamprey germline genome provides insights into programmed genome rearrangement and vertebrate evolution

Smith, Jeramiah J ; Timoshevskaya, Nataliya ; Ye, Chengxi ; Holt, Carson ; Keinath, Melissa C ; Parker, Hugo J ; Cook, Malcolm E ; Hess, Jon E ; Narum, Shawn R ; Lamanna, Francesco ; Kaessmann, Henrik ; Timoshevskiy, Vladimir A ; Waterbury, Courtney K M ; Saraceno, Cody ; Wiedemann, Leanne M ; Robb, Sofia M C ; Baker, Carl ; Eichler, Evan E ; Hockman, Dorit ; Sauka-Spengler, Tatjana ; Yandell, Mark ; Krumlauf, Robb ; Elgar, Greg ; Amemiya, Chris T

Nature genetics, 2018-02, Vol.50 (2), p.270-277 [Periódico revisado por pares]

United States: Nature Publishing Group

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7
Mutational and selective effects on copy-number variants in the human genome
Mutational and selective effects on copy-number variants in the human genome
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Mutational and selective effects on copy-number variants in the human genome

COOPER, Gregory M ; NICKERSON, Deborah A ; EICHLER, Evan E

Nature genetics, 2007-07, Vol.39 (7), p.S22-S29 [Periódico revisado por pares]

London: Nature Publishing Group

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8
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo
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A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo

Nakamori, Masayuki ; Panigrahi, Gagan B ; Lanni, Stella ; Gall-Duncan, Terence ; Hayakawa, Hideki ; Tanaka, Hana ; Luo, Jennifer ; Otabe, Takahiro ; Li, Jinxing ; Sakata, Akihiro ; Caron, Marie-Christine ; Joshi, Niraj ; Prasolava, Tanya ; Chiang, Karen ; Masson, Jean-Yves ; Wold, Marc S ; Wang, Xiaoxiao ; Lee, Marietta Y W T ; Huddleston, John ; Munson, Katherine M ; Davidson, Scott ; Layeghifard, Mehdi ; Edward, Lisa-Monique ; Gallon, Richard ; Santibanez-Koref, Mauro ; Murata, Asako ; Takahashi, Masanori P ; Eichler, Evan E ; Shlien, Adam ; Nakatani, Kazuhiko ; Mochizuki, Hideki ; Pearson, Christopher E

Nature genetics, 2020-02, Vol.52 (2), p.146-159 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
Systematic assessment of copy number variant detection via genome-wide SNP genotyping
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Systematic assessment of copy number variant detection via genome-wide SNP genotyping

Cooper, Gregory M ; Zerr, Troy ; Kidd, Jeffrey M ; Eichler, Evan E ; Nickerson, Deborah A

Nature genetics, 2008-10, Vol.40 (10), p.1199-1203 [Periódico revisado por pares]

London: Nature Publishing Group

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10
Challenges and standards in integrating surveys of structural variation
Challenges and standards in integrating surveys of structural variation
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Challenges and standards in integrating surveys of structural variation

SCHERER, Stephen W ; LEE, Charles ; BIRNEY, Ewan ; ALTSHULER, David M ; EICHLER, Evan E ; CARTER, Nigel P ; HURLES, Matthew E ; FEUK, Lars

Nature genetics, 2007-06, Vol.39 (7), p.S7-S15 [Periódico revisado por pares]

London: Nature Publishing Group

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