Results
|
|
181.
|
A collagen-binding adhesin, Acb, and ten other putative MSCRAMM and pilus family proteins of Streptococcus gallolyticus subsp. gallolyticus (Streptococcus bovis Group, biotype I). [electronic resource] by
- Sillanpää, Jouko
- Nallapareddy, Sreedhar R
- Qin, Xiang
- Singh, Kavindra V
- Muzny, Donna M
- Kovar, Christie L
- Nazareth, Lynne V
- Gibbs, Richard A
- Ferraro, Mary J
- Steckelberg, James M
- Weinstock, George M
- Murray, Barbara E
Producer: 20091104
In:
Journal of bacteriology vol. 191
Availability: No items available.
|
|
|
182.
|
Pooled genomic indexing of rhesus macaque. [electronic resource] by
- Milosavljevic, Aleksandar
- Harris, Ronald A
- Sodergren, Erica J
- Jackson, Andrew R
- Kalafus, Ken J
- Hodgson, Anne
- Cree, Andrew
- Dai, Weilie
- Csuros, Miklos
- Zhu, Baoli
- de Jong, Pieter J
- Weinstock, George M
- Gibbs, Richard A
Producer: 20050503
In:
Genome research vol. 15
Availability: No items available.
|
|
|
183.
|
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. [electronic resource] by
- Reid, Jeffrey G
- Carroll, Andrew
- Veeraraghavan, Narayanan
- Dahdouli, Mahmoud
- Sundquist, Andreas
- English, Adam
- Bainbridge, Matthew
- White, Simon
- Salerno, William
- Buhay, Christian
- Yu, Fuli
- Muzny, Donna
- Daly, Richard
- Duyk, Geoff
- Gibbs, Richard A
- Boerwinkle, Eric
Producer: 20140615
In:
BMC bioinformatics vol. 15
Availability: No items available.
|
|
|
184.
|
A non-mosaic [electronic resource] by
- Madan, Simran
- Liu, Wei
- Lu, James T
- Sutton, V Reid
- Toth, Bryant
- Joe, Priscilla
- Waterson, John R
- Gibbs, Richard A
- Van den Veyver, Ignatia B
- Lammer, Edward J
- Campeau, Philippe M
- Lee, Brendan H
Publication details: Molecular genetics and metabolism reports Sep 2017
In:
Molecular genetics and metabolism reports vol. 12
Availability: No items available.
|
|
|
185.
|
The hypofunctional effect of P335L single nucleotide polymorphism on SSTR5 function. [electronic resource] by
- Zhou, Guisheng
- Gingras, Marie-Claude
- Liu, Shi-He
- Li, Donghui
- Li, Zhijun
- Catania, Robbi L
- Stehling, Kelly M
- Li, Min
- Paganelli, Giovanni
- Gibbs, Richard A
- Demayo, Francesco J
- Fisher, William E
- Brunicardi, F Charles
Producer: 20111222
In:
World journal of surgery vol. 35
Availability: No items available.
|
|
|
186.
|
Two male sibs with severe micrognathia and a missense variant in MED12. [electronic resource] by
- Prescott, Trine E
- Kulseth, Mari Ann
- Heimdal, Ketil R
- Stadheim, Barbro
- Hopp, Einar
- Gambin, Tomasz
- Coban Akdemir, Zeynep H
- Jhangiani, Shalini N
- Muzny, Donna M
- Gibbs, Richard A
- Lupski, James R
- Stray-Pedersen, Asbjørg
Producer: 20170206
In:
European journal of medical genetics vol. 59
Availability: No items available.
|
|
|
187.
|
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. [electronic resource] by
- Boycott, Kym M
- Hartley, Taila
- Biesecker, Leslie G
- Gibbs, Richard A
- Innes, A Micheil
- Riess, Olaf
- Belmont, John
- Dunwoodie, Sally L
- Jojic, Nebojsa
- Lassmann, Timo
- Mackay, Deborah
- Temple, I Karen
- Visel, Axel
- Baynam, Gareth
Producer: 20200213
In:
Cell vol. 177
Availability: No items available.
|
|
|
188.
|
Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. [electronic resource] by
- Yu, Fuli
- Sabeti, Pardis C
- Hardenbol, Paul
- Fu, Qing
- Fry, Ben
- Lu, Xiuhua
- Ghose, Sy
- Vega, Richard
- Perez, Ag
- Pasternak, Shiran
- Leal, Suzanne M
- Willis, Thomas D
- Nelson, David L
- Belmont, John
- Gibbs, Richard A
Producer: 20060522
In:
PLoS genetics vol. 1
Availability: No items available.
|
|
|
189.
|
The complete genome sequence of Escherichia coli DH10B: insights into the biology of a laboratory workhorse. [electronic resource] by
- Durfee, Tim
- Nelson, Richard
- Baldwin, Schuyler
- Plunkett, Guy
- Burland, Valerie
- Mau, Bob
- Petrosino, Joseph F
- Qin, Xiang
- Muzny, Donna M
- Ayele, Mulu
- Gibbs, Richard A
- Csörgo, Bálint
- Pósfai, György
- Weinstock, George M
- Blattner, Frederick R
Producer: 20080703
In:
Journal of bacteriology vol. 190
Availability: No items available.
|
|
|
190.
|
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1). [electronic resource] by
- Caramins, Melody
- Colebatch, James G
- Bainbridge, Matthew N
- Scherer, Steven S
- Abrams, Charles K
- Hackett, Emma L
- Freidin, Mona M
- Jhangiani, Shalini N
- Wang, Min
- Wu, Yuanqing
- Muzny, Donna M
- Lindeman, Robert
- Gibbs, Richard A
Producer: 20140430
In:
Human molecular genetics vol. 22
Availability: No items available.
|
|
|
191.
|
Killer whale nuclear genome and mtDNA reveal widespread population bottleneck during the last glacial maximum. [electronic resource] by
- Moura, Andre E
- Janse van Rensburg, Charlene
- Pilot, Malgorzata
- Tehrani, Arman
- Best, Peter B
- Thornton, Meredith
- Plön, Stephanie
- de Bruyn, P J Nico
- Worley, Kim C
- Gibbs, Richard A
- Dahlheim, Marilyn E
- Hoelzel, Alan Rus
Producer: 20140926
In:
Molecular biology and evolution vol. 31
Availability: No items available.
|
|
|
192.
|
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. [electronic resource] by
- Karaca, Ender
- Yuregir, Ozge O
- Bozdogan, Sevcan T
- Aslan, Huseyin
- Pehlivan, Davut
- Jhangiani, Shalini N
- Akdemir, Zeynep C
- Gambin, Tomasz
- Bayram, Yavuz
- Atik, Mehmed M
- Erdin, Serkan
- Muzny, Donna
- Gibbs, Richard A
- Lupski, James R
Producer: 20160828
In:
American journal of medical genetics. Part A vol. 167A
Availability: No items available.
|
|
|
193.
|
A sequence-level map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome. [electronic resource] by
- Hampton, Oliver A
- Den Hollander, Petra
- Miller, Christopher A
- Delgado, David A
- Li, Jian
- Coarfa, Cristian
- Harris, Ronald A
- Richards, Stephen
- Scherer, Steven E
- Muzny, Donna M
- Gibbs, Richard A
- Lee, Adrian V
- Milosavljevic, Aleksandar
Producer: 20090402
In:
Genome research vol. 19
Availability: No items available.
|
|
|
194.
|
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy. [electronic resource] by
- Lupski, James R
- Gonzaga-Jauregui, Claudia
- Yang, Yaping
- Bainbridge, Matthew N
- Jhangiani, Shalini
- Buhay, Christian J
- Kovar, Christie L
- Wang, Min
- Hawes, Alicia C
- Reid, Jeffrey G
- Eng, Christine
- Muzny, Donna M
- Gibbs, Richard A
Producer: 20140520
In:
Genome medicine vol. 5
Availability: No items available.
|
|
|
195.
|
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. [electronic resource] by
- He, Xin
- Sanders, Stephan J
- Liu, Li
- De Rubeis, Silvia
- Lim, Elaine T
- Sutcliffe, James S
- Schellenberg, Gerard D
- Gibbs, Richard A
- Daly, Mark J
- Buxbaum, Joseph D
- State, Matthew W
- Devlin, Bernie
- Roeder, Kathryn
Producer: 20140321
In:
PLoS genetics vol. 9
Availability: No items available.
|
|
|
196.
|
Whole exome capture in solution with 3 Gbp of data. [electronic resource] by
- Bainbridge, Matthew N
- Wang, Min
- Burgess, Daniel L
- Kovar, Christie
- Rodesch, Matthew J
- D'Ascenzo, Mark
- Kitzman, Jacob
- Wu, Yuan-Qing
- Newsham, Irene
- Richmond, Todd A
- Jeddeloh, Jeffrey A
- Muzny, Donna
- Albert, Thomas J
- Gibbs, Richard A
Producer: 20101103
In:
Genome biology vol. 11
Availability: No items available.
|
|
|
197.
|
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. [electronic resource] by
- Potter, Samara L
- Venkatramani, Rajkumar
- Wenderfer, Scott
- Graham, Brett H
- Vasudevan, Sanjeev A
- Sher, Andrew
- Wu, Hao
- Wheeler, David A
- Yang, Yaping
- Eng, Christine M
- Gibbs, Richard A
- Roy, Angshumoy
- Plon, Sharon E
- Parsons, D Williams
Producer: 20170626
In:
Pediatric blood & cancer vol. 64
Availability: No items available.
|
|
|
198.
|
Complete genome sequence of Treponema paraluiscuniculi, strain Cuniculi A: the loss of infectivity to humans is associated with genome decay. [electronic resource] by
- Šmajs, David
- Zobaníková, Marie
- Strouhal, Michal
- Čejková, Darina
- Dugan-Rocha, Shannon
- Pospíšilová, Petra
- Norris, Steven J
- Albert, Tom
- Qin, Xiang
- Hallsworth-Pepin, Kym
- Buhay, Christian
- Muzny, Donna M
- Chen, Lei
- Gibbs, Richard A
- Weinstock, George M
Producer: 20111005
In:
PloS one vol. 6
Availability: No items available.
|
|
|
199.
|
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. [electronic resource] by
- Fieremans, Nathalie
- Van Esch, Hilde
- Holvoet, Maureen
- Van Goethem, Gert
- Devriendt, Koenraad
- Rosello, Monica
- Mayo, Sonia
- Martinez, Francisco
- Jhangiani, Shalini
- Muzny, Donna M
- Gibbs, Richard A
- Lupski, James R
- Vermeesch, Joris R
- Marynen, Peter
- Froyen, Guy
Producer: 20171215
In:
Human mutation vol. 37
Availability: No items available.
|
|
|
200.
|
Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. [electronic resource] by
- Martinez-Moczygemba, Margarita
- Doan, Minh L
- Elidemir, Okan
- Fan, Leland L
- Cheung, Sau Wai
- Lei, Jonathan T
- Moore, James P
- Tavana, Ghamartaj
- Lewis, Lora R
- Zhu, Yiming
- Muzny, Donna M
- Gibbs, Richard A
- Huston, David P
Producer: 20081229
In:
The Journal of experimental medicine vol. 205
Availability: No items available.
|