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Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. [electronic resource] by
- Methner, D Nicole R
- Scherer, Steven E
- Welch, Katherine
- Walkiewicz, Magdalena
- Eng, Christine M
- Belmont, John W
- Powell, Mark C
- Korchina, Viktoriya
- Doddapaneni, Harsha Vardhan
- Muzny, Donna M
- Gibbs, Richard A
- Wolf, Dwayne A
- Sanchez, Luis A
- Kahn, Roger
Producer: 20180105
In:
Genome research vol. 26
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222.
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Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. [electronic resource] by
- Bayram, Yavuz
- Pehlivan, Davut
- Karaca, Ender
- Gambin, Tomasz
- Jhangiani, Shalini N
- Erdin, Serkan
- Gonzaga-Jauregui, Claudia
- Wiszniewski, Wojciech
- Muzny, Donna
- Elcioglu, Nursel H
- Yildirim, M Selman
- Bozkurt, Banu
- Zamani, Ayse Gul
- Boerwinkle, Eric
- Gibbs, Richard A
- Lupski, James R
Producer: 20150420
In:
American journal of medical genetics. Part A vol. 164A
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223.
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The ethics of conducting molecular autopsies in cases of sudden death in the young. [electronic resource] by
- McGuire, Amy L
- Moore, Quianta
- Majumder, Mary
- Walkiewicz, Magdalena
- Eng, Christine M
- Belmont, John W
- Nassef, Salma
- Darilek, Sandra
- Rutherford, Katie
- Pereira, Stacey
- Scherer, Steven E
- Sutton, V Reid
- Wolf, Dwayne
- Gibbs, Richard A
- Kahn, Roger
- Sanchez, Luis A
Producer: 20180201
In:
Genome research vol. 26
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224.
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Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor. [electronic resource] by
- Murphy, Stephen J
- Hart, Steven N
- Lima, Joema Felipe
- Kipp, Benjamin R
- Klebig, Mitchell
- Winters, Jennifer L
- Szabo, Csilla
- Zhang, Lizhi
- Eckloff, Bruce W
- Petersen, Gloria M
- Scherer, Steven E
- Gibbs, Richard A
- McWilliams, Robert R
- Vasmatzis, George
- Couch, Fergus J
Producer: 20140214
In:
Gastroenterology vol. 145
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225.
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A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. [electronic resource] by
- Dinckan, Nuriye
- Du, Renqian
- Akdemir, Zeynep C
- Bayram, Yavuz
- Jhangiani, Shalini N
- Doddapaneni, Harsha
- Hu, Jianhong
- Muzny, Donna M
- Guven, Yeliz
- Aktoren, Oya
- Kayserili, Hulya
- Boerwinkle, Eric
- Gibbs, Richard A
- Posey, Jennifer E
- Lupski, James R
- Uyguner, Zehra O
- Letra, Ariadne
Producer: 20190228
In:
American journal of medical genetics. Part A vol. 176
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226.
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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. [electronic resource] by
- Punetha, Jaya
- Karaca, Ender
- Gezdirici, Alper
- Lamont, Ryan E
- Pehlivan, Davut
- Marafi, Dana
- Appendino, Juan P
- Hunter, Jill V
- Akdemir, Zeynep C
- Fatih, Jawid M
- Jhangiani, Shalini N
- Gibbs, Richard A
- Innes, A Micheil
- Posey, Jennifer E
- Lupski, James R
Producer: 20200529
In:
Annals of clinical and translational neurology vol. 6
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227.
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Single nucleotide polymorphism in RECQL and survival in resectable pancreatic adenocarcinoma. [electronic resource] by
- Cotton, Ronald T
- Li, Donghui
- Scherer, Steven E
- Muzny, Donna M
- Hodges, Sally E
- Catania, Robbi L
- Witkiewicz, Agnieszka K
- Brody, Jonathan R
- Kennedy, Eugene P
- Yeo, Charles J
- Brunicardi, F Charles
- Gibbs, Richard A
- Gingras, Marie-Claude
- Fisher, William E
Producer: 20100609
In:
HPB : the official journal of the International Hepato Pancreato Biliary Association vol. 11
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228.
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Whole-genome sequencing for optimized patient management. [electronic resource] by
- Bainbridge, Matthew N
- Wiszniewski, Wojciech
- Murdock, David R
- Friedman, Jennifer
- Gonzaga-Jauregui, Claudia
- Newsham, Irene
- Reid, Jeffrey G
- Fink, John K
- Morgan, Margaret B
- Gingras, Marie-Claude
- Muzny, Donna M
- Hoang, Linh D
- Yousaf, Shahed
- Lupski, James R
- Gibbs, Richard A
Producer: 20110926
In:
Science translational medicine vol. 3
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229.
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Landscape of somatic retrotransposition in human cancers. [electronic resource] by
- Lee, Eunjung
- Iskow, Rebecca
- Yang, Lixing
- Gokcumen, Omer
- Haseley, Psalm
- Luquette, Lovelace J
- Lohr, Jens G
- Harris, Christopher C
- Ding, Li
- Wilson, Richard K
- Wheeler, David A
- Gibbs, Richard A
- Kucherlapati, Raju
- Lee, Charles
- Kharchenko, Peter V
- Park, Peter J
Producer: 20120913
In:
Science (New York, N.Y.) vol. 337
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230.
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Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. [electronic resource] by
- Lotta, Luca A
- Wu, Haifeng M
- Mackie, Ian J
- Noris, Marina
- Veyradier, Agnes
- Scully, Marie A
- Remuzzi, Giuseppe
- Coppo, Paul
- Liesner, Ri
- Donadelli, Roberta
- Loirat, Chantal
- Gibbs, Richard A
- Horne, April
- Yang, Shangbin
- Garagiola, Isabella
- Musallam, Khaled M
- Peyvandi, Flora
Producer: 20120926
In:
Blood vol. 120
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231.
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Tissue-specific transcriptome sequencing analysis expands the non-human primate reference transcriptome resource (NHPRTR). [electronic resource] by
- Peng, Xinxia
- Thierry-Mieg, Jean
- Thierry-Mieg, Danielle
- Nishida, Andrew
- Pipes, Lenore
- Bozinoski, Marjan
- Thomas, Matthew J
- Kelly, Sara
- Weiss, Jeffrey M
- Raveendran, Muthuswamy
- Muzny, Donna
- Gibbs, Richard A
- Rogers, Jeffrey
- Schroth, Gary P
- Katze, Michael G
- Mason, Christopher E
Producer: 20150629
In:
Nucleic acids research vol. 43
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232.
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FBN1 contributing to familial congenital diaphragmatic hernia. [electronic resource] by
- Beck, Tyler F
- Campeau, Philippe M
- Jhangiani, Shalini N
- Gambin, Tomasz
- Li, Alexander H
- Abo-Zahrah, Reem
- Jordan, Valerie K
- Hernandez-Garcia, Andres
- Wiszniewski, Wojciech K
- Muzny, Donna
- Gibbs, Richard A
- Boerwinkle, Eric
- Lupski, James R
- Lee, Brendan
- Reardon, Willie
- Scott, Daryl A
Producer: 20151214
In:
American journal of medical genetics. Part A vol. 167A
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233.
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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. [electronic resource] by
- Okamoto, Yuji
- Goksungur, Meryem Tuba
- Pehlivan, Davut
- Beck, Christine R
- Gonzaga-Jauregui, Claudia
- Muzny, Donna M
- Atik, Mehmed M
- Carvalho, Claudia M B
- Matur, Zeliha
- Bayraktar, Serife
- Boone, Philip M
- Akyuz, Kaya
- Gibbs, Richard A
- Battaloglu, Esra
- Parman, Yesim
- Lupski, James R
Producer: 20150110
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 16
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234.
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Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. [electronic resource] by
- Campeau, Philippe M
- Lenk, Guy M
- Lu, James T
- Bae, Yangjin
- Burrage, Lindsay
- Turnpenny, Peter
- Román Corona-Rivera, Jorge
- Morandi, Lucia
- Mora, Marina
- Reutter, Heiko
- Vulto-van Silfhout, Anneke T
- Faivre, Laurence
- Haan, Eric
- Gibbs, Richard A
- Meisler, Miriam H
- Lee, Brendan H
Producer: 20130705
In:
American journal of human genetics vol. 92
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235.
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Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. [electronic resource] by
- Karaca, Ender
- Buyukkaya, Ramazan
- Pehlivan, Davut
- Charng, Wu-Lin
- Yaykasli, Kursat O
- Bayram, Yavuz
- Gambin, Tomasz
- Withers, Marjorie
- Atik, Mehmed M
- Arslanoglu, Ilknur
- Bolu, Semih
- Erdin, Serkan
- Buyukkaya, Ayla
- Yaykasli, Emine
- Jhangiani, Shalini N
- Muzny, Donna M
- Gibbs, Richard A
- Lupski, James R
Producer: 20150708
In:
The Journal of clinical endocrinology and metabolism vol. 100
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236.
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Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes. [electronic resource] by
- Lotta, Luca A
- Wang, Mark
- Yu, Jin
- Martinelli, Ida
- Yu, Fuli
- Passamonti, Serena M
- Consonni, Dario
- Pappalardo, Emanuela
- Menegatti, Marzia
- Scherer, Steven E
- Lewis, Lora L
- Akbar, Humeira
- Wu, Yuanqing
- Bainbridge, Matthew N
- Muzny, Donna M
- Mannucci, Pier M
- Gibbs, Richard A
- Peyvandi, Flora
Producer: 20120823
In:
BMC medical genomics vol. 5
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237.
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Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. [electronic resource] by
- Egunsola, Adetutu T
- Bae, Yangjin
- Jiang, Ming-Ming
- Liu, David S
- Chen-Evenson, Yuqing
- Bertin, Terry
- Chen, Shan
- Lu, James T
- Nevarez, Lisette
- Magal, Nurit
- Raas-Rothschild, Annick
- Swindell, Eric C
- Cohn, Daniel H
- Gibbs, Richard A
- Campeau, Philippe M
- Shohat, Mordechai
- Lee, Brendan H
Producer: 20170912
In:
The Journal of clinical investigation vol. 127
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238.
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Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. [electronic resource] by
- Du, Renqian
- Dinckan, Nuriye
- Song, Xiaofei
- Coban-Akdemir, Zeynep
- Jhangiani, Shalini N
- Guven, Yeliz
- Aktoren, Oya
- Kayserili, Hulya
- Petty, Lauren E
- Muzny, Donna M
- Below, Jennifer E
- Boerwinkle, Eric
- Wu, Nan
- Gibbs, Richard A
- Posey, Jennifer E
- Lupski, James R
- Letra, Ariadne
- Uyguner, Z Oya
Producer: 20180924
In:
Human genetics vol. 137
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239.
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Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. [electronic resource] by
- Gonzaga-Jauregui, Claudia
- Lotze, Timothy
- Jamal, Leila
- Penney, Samantha
- Campbell, Ian M
- Pehlivan, Davut
- Hunter, Jill V
- Woodbury, Suzanne L
- Raymond, Gerald
- Adesina, Adekunle M
- Jhangiani, Shalini N
- Reid, Jeffrey G
- Muzny, Donna M
- Boerwinkle, Eric
- Lupski, James R
- Gibbs, Richard A
- Wiszniewski, Wojciech
Producer: 20140220
In:
JAMA neurology vol. 70
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240.
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DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. [electronic resource] by
- White, Janson J
- Mazzeu, Juliana F
- Hoischen, Alexander
- Bayram, Yavuz
- Withers, Marjorie
- Gezdirici, Alper
- Kimonis, Virginia
- Steehouwer, Marloes
- Jhangiani, Shalini N
- Muzny, Donna M
- Gibbs, Richard A
- van Bon, Bregje W M
- Sutton, V Reid
- Lupski, James R
- Brunner, Han G
- Carvalho, Claudia M B
Producer: 20160725
In:
American journal of human genetics vol. 98
Availability: No items available.
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