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161.
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Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. [electronic resource] by
- Prall, Trent M
- Graham, Michael E
- Karl, Julie A
- Wiseman, Roger W
- Ericsen, Adam J
- Raveendran, Muthuswamy
- Alan Harris, R
- Muzny, Donna M
- Gibbs, Richard A
- Rogers, Jeffrey
- O'Connor, David H
Producer: 20170905
In:
Immunogenetics vol. 69
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162.
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Lipoprotein-associated phospholipase A [electronic resource] by
- Garg, Parveen K
- Norby, Faye L
- Polfus, Linda M
- Boerwinkle, Eric
- Gibbs, Richard A
- Grove, Megan L
- Folsom, Aaron R
- Garimella, Pranav S
- Matsushita, Kunihiro
- Hoogeveen, Ron C
- Ballantyne, Christie M
Producer: 20190528
In:
Atherosclerosis vol. 268
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163.
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Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study. [electronic resource] by
- de Vries, Paul S
- Yu, Bing
- Feofanova, Elena V
- Metcalf, Ginger A
- Brown, Michael R
- Zeighami, Atefeh L
- Liu, Xiaoming
- Muzny, Donna M
- Gibbs, Richard A
- Boerwinkle, Eric
- Morrison, Alanna C
Producer: 20180111
In:
Human molecular genetics vol. 26
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164.
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Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. [electronic resource] by
- Campeau, Philippe M
- Lu, James T
- Sule, Gautam
- Jiang, Ming-Ming
- Bae, Yangjin
- Madan, Simran
- Högler, Wolfgang
- Shaw, Nicholas J
- Mumm, Steven
- Gibbs, Richard A
- Whyte, Michael P
- Lee, Brendan H
Producer: 20130326
In:
Human molecular genetics vol. 21
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165.
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Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in [electronic resource] by
- Jin, Zixue
- Burrage, Lindsay C
- Jiang, Ming-Ming
- Lee, Yi-Chien
- Bertin, Terry
- Chen, Yuqing
- Tran, Alyssa
- Gibbs, Richard A
- Jhangiani, Shalini
- Sutton, V Reid
- Rauch, Frank
- Lee, Brendan
- Jain, Mahim
Publication details: JBMR plus Jul 2018
In:
JBMR plus vol. 2
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166.
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What everybody should know about the rat genome and its online resources. [electronic resource] by
- Twigger, Simon N
- Pruitt, Kim D
- Fernández-Suárez, Xosé M
- Karolchik, Donna
- Worley, Kim C
- Maglott, Donna R
- Brown, Garth
- Weinstock, George
- Gibbs, Richard A
- Kent, Jim
- Birney, Ewan
- Jacob, Howard J
Producer: 20080522
In:
Nature genetics vol. 40
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167.
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Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. [electronic resource] by
- Gonzaga-Jauregui, Claudia
- Mir, Sabina
- Penney, Samantha
- Jhangiani, Shalini
- Midgen, Craig
- Finegold, Milton
- Muzny, Donna M
- Wang, Min
- Bacino, Carlos A
- Gibbs, Richard A
- Lupski, James R
- Kellermayer, Richard
- Hanchard, Neil A
Producer: 20160229
In:
Journal of pediatric gastroenterology and nutrition vol. 59
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168.
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Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis. [electronic resource] by
- Rajagopal, Abbhirami
- Braslavsky, Débora
- Lu, James T
- Kleppe, Soledad
- Clément, Florencia
- Cassinelli, Hamilton
- Liu, David S
- Liern, Jose Miguel
- Vallejo, Graciela
- Bergadá, Ignacio
- Gibbs, Richard A
- Campeau, Phillipe M
- Lee, Brendan H
Producer: 20150116
In:
The Journal of clinical endocrinology and metabolism vol. 99
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169.
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A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay. [electronic resource] by
- Ozantürk, Ayşegül
- Davis, Erica E
- Sabo, Aniko
- Weiss, Marjan M
- Muzny, Donna
- Dugan-Perez, Shannon
- Sistermans, Erik A
- Gibbs, Richard A
- Özgül, Köksal R
- Yalnızoglu, Dilek
- Serdaroglu, Esra
- Dursun, Ali
- Katsanis, Nicholas
Producer: 20160505
In:
Cold Spring Harbor molecular case studies vol. 2
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170.
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Personalized copy number and segmental duplication maps using next-generation sequencing. [electronic resource] by
- 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
- Eichler, Evan E
Producer: 20091014
In:
Nature genetics vol. 41
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171.
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Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. [electronic resource] by
- Xi, Ruibin
- Hadjipanayis, Angela G
- Luquette, Lovelace J
- Kim, Tae-Min
- Lee, Eunjung
- Zhang, Jianhua
- Johnson, Mark D
- Muzny, Donna M
- Wheeler, David A
- Gibbs, Richard A
- Kucherlapati, Raju
- Park, Peter J
Producer: 20120126
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 108
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172.
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Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. [electronic resource] by
- Ramasamy, Ranjith
- Bakırcıoğlu, M Emre
- Cengiz, Cenk
- Karaca, Ender
- Scovell, Jason
- Jhangiani, Shalini N
- Akdemir, Zeynep C
- Bainbridge, Matthew
- Yu, Yao
- Huff, Chad
- Gibbs, Richard A
- Lupski, James R
- Lamb, Dolores J
Producer: 20151229
In:
Fertility and sterility vol. 104
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173.
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Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel. [electronic resource] by
- Plon, Sharon E
- Wheeler, David A
- Strong, Louise C
- Tomlinson, Gail E
- Pirics, Michael
- Meng, Qingchang
- Cheung, Hannah C
- Begin, Phyllis R
- Muzny, Donna M
- Lewis, Lora
- Biegel, Jaclyn A
- Gibbs, Richard A
Producer: 20110427
In:
Cancer genetics vol. 204
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174.
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PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. [electronic resource] by
- Gawlinski, Pawel
- Posmyk, Renata
- Gambin, Tomasz
- Sielicka, Danuta
- Chorazy, Monika
- Nowakowska, Beata
- Jhangiani, Shalini N
- Muzny, Donna M
- Bekiesinska-Figatowska, Monika
- Bal, Jerzy
- Boerwinkle, Eric
- Gibbs, Richard A
- Lupski, James R
- Wiszniewski, Wojciech
Producer: 20171215
In:
Pediatric neurology vol. 60
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175.
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Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence. [electronic resource] by
- Cejková, Darina
- Zobaníková, Marie
- Chen, Lei
- Pospíšilová, Petra
- Strouhal, Michal
- Qin, Xiang
- Mikalová, Lenka
- Norris, Steven J
- Muzny, Donna M
- Gibbs, Richard A
- Fulton, Lucinda L
- Sodergren, Erica
- Weinstock, George M
- Smajs, David
Producer: 20120516
In:
PLoS neglected tropical diseases vol. 6
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176.
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Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication. [electronic resource] by
- Shinbrot, Eve
- Henninger, Erin E
- Weinhold, Nils
- Covington, Kyle R
- Göksenin, A Yasemin
- Schultz, Nikolaus
- Chao, Hsu
- Doddapaneni, HarshaVardhan
- Muzny, Donna M
- Gibbs, Richard A
- Sander, Chris
- Pursell, Zachary F
- Wheeler, David A
Producer: 20150720
In:
Genome research vol. 24
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177.
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Direct selection of human genomic loci by microarray hybridization. [electronic resource] by
- Albert, Thomas J
- Molla, Michael N
- Muzny, Donna M
- Nazareth, Lynne
- Wheeler, David
- Song, Xingzhi
- Richmond, Todd A
- Middle, Chris M
- Rodesch, Matthew J
- Packard, Charles J
- Weinstock, George M
- Gibbs, Richard A
Producer: 20080115
In:
Nature methods vol. 4
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178.
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Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome. [electronic resource] by
- Polfus, Linda M
- Boerwinkle, Eric
- Gibbs, Richard A
- Metcalf, Ginger
- Muzny, Donna
- Veeraraghavan, Narayanan
- Grove, Megan
- Shete, Sanjay
- Wallace, Stephanie
- Milewicz, Dianna
- Hanchard, Neil
- Lupski, James R
- Hashmi, Syed Shahrukh
- Gupta-Malhotra, Monesha
Producer: 20171117
In:
Cold Spring Harbor molecular case studies vol. 2
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179.
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Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. [electronic resource] by
- Schafer, Chad M
- Campbell, Nicholas G
- Cai, Guiqing
- Yu, Fei
- Makarov, Vladimir
- Yoon, Seungtai
- Daly, Mark J
- Gibbs, Richard A
- Schellenberg, Gerard D
- Devlin, Bernie
- Sutcliffe, James S
- Buxbaum, Joseph D
- Roeder, Kathryn
Producer: 20140428
In:
Genomics vol. 102
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180.
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An open access pilot freely sharing cancer genomic data from participants in Texas. [electronic resource] by
- Becnel, Lauren B
- Pereira, Stacey
- Drummond, Jennifer A
- Gingras, Marie-Claude
- Covington, Kyle R
- Kovar, Christie L
- Doddapaneni, Harsha Vardhan
- Hu, Jianhong
- Muzny, Donna
- McGuire, Amy L
- Wheeler, David A
- Gibbs, Richard A
Producer: 20160906
In:
Scientific data vol. 3
Availability: No items available.
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