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261.
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Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. [electronic resource] by
- Chong, Jessica X
- Burrage, Lindsay C
- Beck, Anita E
- Marvin, Colby T
- McMillin, Margaret J
- Shively, Kathryn M
- Harrell, Tanya M
- Buckingham, Kati J
- Bacino, Carlos A
- Jain, Mahim
- Alanay, Yasemin
- Berry, Susan A
- Carey, John C
- Gibbs, Richard A
- Lee, Brendan H
- Krakow, Deborah
- Shendure, Jay
- Nickerson, Deborah A
- Bamshad, Michael J
Producer: 20150729
In:
American journal of human genetics vol. 96
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262.
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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. [electronic resource] by
- Gambin, Tomasz
- Akdemir, Zeynep C
- Yuan, Bo
- Gu, Shen
- Chiang, Theodore
- Carvalho, Claudia M B
- Shaw, Chad
- Jhangiani, Shalini
- Boone, Philip M
- Eldomery, Mohammad K
- Karaca, Ender
- Bayram, Yavuz
- Stray-Pedersen, Asbjørg
- Muzny, Donna
- Charng, Wu-Lin
- Bahrambeigi, Vahid
- Belmont, John W
- Boerwinkle, Eric
- Beaudet, Arthur L
- Gibbs, Richard A
- Lupski, James R
Producer: 20171002
In:
Nucleic acids research vol. 45
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263.
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. [electronic resource] by
- Wang, Xia
- Charng, Wu-Lin
- Chen, Chun-An
- Rosenfeld, Jill A
- Al Shamsi, Aisha
- Al-Gazali, Lihadh
- McGuire, Marianne
- Mew, Nicholas Ah
- Arnold, Georgianne L
- Qu, Chunjing
- Ding, Yan
- Muzny, Donna M
- Gibbs, Richard A
- Eng, Christine M
- Walkiewicz, Magdalena
- Xia, Fan
- Plon, Sharon E
- Lupski, James R
- Schaaf, Christian P
- Yang, Yaping
Producer: 20170905
In:
Nature genetics vol. 49
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264.
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Evolutionary History of Chemosensory-Related Gene Families across the Arthropoda. [electronic resource] by
- Eyun, Seong-Il
- Soh, Ho Young
- Posavi, Marijan
- Munro, James B
- Hughes, Daniel S T
- Murali, Shwetha C
- Qu, Jiaxin
- Dugan, Shannon
- Lee, Sandra L
- Chao, Hsu
- Dinh, Huyen
- Han, Yi
- Doddapaneni, HarshaVardhan
- Worley, Kim C
- Muzny, Donna M
- Park, Eun-Ok
- Silva, Joana C
- Gibbs, Richard A
- Richards, Stephen
- Lee, Carol Eunmi
Producer: 20180201
In:
Molecular biology and evolution vol. 34
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265.
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Syndromic congenital myelofibrosis associated with a loss-of-function variant in [electronic resource] by
- Magoulas, Pilar L
- Shchelochkov, Oleg A
- Bainbridge, Matthew N
- Ben-Shachar, Shay
- Yatsenko, Svetlana
- Potocki, Lorraine
- Lewis, Richard A
- Searby, Charles
- Marcogliese, Andrea N
- Elghetany, M Tarek
- Zapata, Gladys
- Hernández, Paula P
- Gadkari, Manasi
- Einhaus, Derek
- Muzny, Donna M
- Gibbs, Richard A
- Bertuch, Alison A
- Scott, Daryl A
- Corvera, Silvia
- Franco, Luis M
Producer: 20190715
In:
Blood vol. 132
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266.
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Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study. [electronic resource] by
- Liu, Ching-Ti
- Young, Kristin L
- Brody, Jennifer A
- Olden, Matthias
- Wojczynski, Mary K
- Heard-Costa, Nancy
- Li, Guo
- Morrison, Alanna C
- Muzny, Donna
- Gibbs, Richard A
- Reid, Jeffrey G
- Shao, Yaming
- Zhou, Yanhua
- Boerwinkle, Eric
- Heiss, Gerardo
- Wagenknecht, Lynne
- McKnight, Barbara
- Borecki, Ingrid B
- Fox, Caroline S
- North, Kari E
- Cupples, L Adrienne
Producer: 20150330
In:
Circulation. Cardiovascular genetics vol. 7
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267.
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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. [electronic resource] by
- Bayram, Yavuz
- White, Janson J
- Elcioglu, Nursel
- Cho, Megan T
- Zadeh, Neda
- Gedikbasi, Asuman
- Palanduz, Sukru
- Ozturk, Sukru
- Cefle, Kivanc
- Kasapcopur, Ozgur
- Coban Akdemir, Zeynep
- Pehlivan, Davut
- Begtrup, Amber
- Carvalho, Claudia M B
- Paine, Ingrid Sophie
- Mentes, Ali
- Bektas-Kayhan, Kivanc
- Karaca, Ender
- Jhangiani, Shalini N
- Muzny, Donna M
- Gibbs, Richard A
- Lupski, James R
Producer: 20170802
In:
American journal of human genetics vol. 101
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268.
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Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes. [electronic resource] by
- Qin, Xiang
- Galloway-Peña, Jessica R
- Sillanpaa, Jouko
- Roh, Jung Hyeob
- Nallapareddy, Sreedhar R
- Chowdhury, Shahreen
- Bourgogne, Agathe
- Choudhury, Tina
- Muzny, Donna M
- Buhay, Christian J
- Ding, Yan
- Dugan-Rocha, Shannon
- Liu, Wen
- Kovar, Christie
- Sodergren, Erica
- Highlander, Sarah
- Petrosino, Joseph F
- Worley, Kim C
- Gibbs, Richard A
- Weinstock, George M
- Murray, Barbara E
Producer: 20121128
In:
BMC microbiology vol. 12
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269.
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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. [electronic resource] by
- Posey, Jennifer E
- Harel, Tamar
- Liu, Pengfei
- Rosenfeld, Jill A
- James, Regis A
- Coban Akdemir, Zeynep H
- Walkiewicz, Magdalena
- Bi, Weimin
- Xiao, Rui
- Ding, Yan
- Xia, Fan
- Beaudet, Arthur L
- Muzny, Donna M
- Gibbs, Richard A
- Boerwinkle, Eric
- Eng, Christine M
- Sutton, V Reid
- Shaw, Chad A
- Plon, Sharon E
- Yang, Yaping
- Lupski, James R
Producer: 20170131
In:
The New England journal of medicine vol. 376
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270.
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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. [electronic resource] by
- Wangler, Michael F
- Gonzaga-Jauregui, Claudia
- Gambin, Tomasz
- Penney, Samantha
- Moss, Timothy
- Chopra, Atul
- Probst, Frank J
- Xia, Fan
- Yang, Yaping
- Werlin, Steven
- Eglite, Ieva
- Kornejeva, Liene
- Bacino, Carlos A
- Baldridge, Dustin
- Neul, Jeff
- Lehman, Efrat Lev
- Larson, Austin
- Beuten, Joke
- Muzny, Donna M
- Jhangiani, Shalini
- Gibbs, Richard A
- Lupski, James R
- Beaudet, Arthur
Producer: 20141125
In:
PLoS genetics vol. 10
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271.
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A potential founder variant in [electronic resource] by
- Sorte, Hanne S
- Osnes, Liv T
- Fevang, Børre
- Aukrust, Pål
- Erichsen, Hans C
- Backe, Paul H
- Abrahamsen, Tore G
- Kittang, Ole B
- Øverland, Torstein
- Jhangiani, Shalini N
- Muzny, Donna M
- Vigeland, Magnus D
- Samarakoon, Pubudu
- Gambin, Tomasz
- Akdemir, Zeynep H C
- Gibbs, Richard A
- Rødningen, Olaug K
- Lyle, Robert
- Lupski, James R
- Stray-Pedersen, Asbjørg
Publication details: Molecular genetics & genomic medicine Nov 2016
In:
Molecular genetics & genomic medicine vol. 4
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272.
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Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus). [electronic resource] by
- Larsen, Peter A
- Harris, R Alan
- Liu, Yue
- Murali, Shwetha C
- Campbell, C Ryan
- Brown, Adam D
- Sullivan, Beth A
- Shelton, Jennifer
- Brown, Susan J
- Raveendran, Muthuswamy
- Dudchenko, Olga
- Machol, Ido
- Durand, Neva C
- Shamim, Muhammad S
- Aiden, Erez Lieberman
- Muzny, Donna M
- Gibbs, Richard A
- Yoder, Anne D
- Rogers, Jeffrey
- Worley, Kim C
Producer: 20180618
In:
BMC biology vol. 15
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273.
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Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. [electronic resource] by
- Bayram, Yavuz
- Gulsuner, Suleyman
- Guran, Tulay
- Abaci, Ayhan
- Yesil, Gozde
- Gulsuner, Hilal Unal
- Atay, Zeynep
- Pierce, Sarah B
- Gambin, Tomasz
- Lee, Ming
- Turan, Serap
- Bober, Ece
- Atik, Mehmed M
- Walsh, Tom
- Karaca, Ender
- Pehlivan, Davut
- Jhangiani, Shalini N
- Muzny, Donna
- Bereket, Abdullah
- Buyukgebiz, Atilla
- Boerwinkle, Eric
- Gibbs, Richard A
- King, Mary-Claire
- Lupski, James R
Producer: 20150930
In:
The Journal of clinical endocrinology and metabolism vol. 100
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274.
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Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds. [electronic resource] by
- Naval-Sanchez, Marina
- Nguyen, Quan
- McWilliam, Sean
- Porto-Neto, Laercio R
- Tellam, Ross
- Vuocolo, Tony
- Reverter, Antonio
- Perez-Enciso, Miguel
- Brauning, Rudiger
- Clarke, Shannon
- McCulloch, Alan
- Zamani, Wahid
- Naderi, Saeid
- Rezaei, Hamid Reza
- Pompanon, Francois
- Taberlet, Pierre
- Worley, Kim C
- Gibbs, Richard A
- Muzny, Donna M
- Jhangiani, Shalini N
- Cockett, Noelle
- Daetwyler, Hans
- Kijas, James
Producer: 20180412
In:
Nature communications vol. 9
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275.
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Complete genome sequence of Rickettsia typhi and comparison with sequences of other rickettsiae. [electronic resource] by
- McLeod, Michael P
- Qin, Xiang
- Karpathy, Sandor E
- Gioia, Jason
- Highlander, Sarah K
- Fox, George E
- McNeill, Thomas Z
- Jiang, Huaiyang
- Muzny, Donna
- Jacob, Leni S
- Hawes, Alicia C
- Sodergren, Erica
- Gill, Rachel
- Hume, Jennifer
- Morgan, Maggie
- Fan, Guangwei
- Amin, Anita G
- Gibbs, Richard A
- Hong, Chao
- Yu, Xue-Jie
- Walker, David H
- Weinstock, George M
Producer: 20040921
In:
Journal of bacteriology vol. 186
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276.
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. [electronic resource] by
- Lupski, James R
- Reid, Jeffrey G
- Gonzaga-Jauregui, Claudia
- Rio Deiros, David
- Chen, David C Y
- Nazareth, Lynne
- Bainbridge, Matthew
- Dinh, Huyen
- Jing, Chyn
- Wheeler, David A
- McGuire, Amy L
- Zhang, Feng
- Stankiewicz, Pawel
- Halperin, John J
- Yang, Chengyong
- Gehman, Curtis
- Guo, Danwei
- Irikat, Rola K
- Tom, Warren
- Fantin, Nick J
- Muzny, Donna M
- Gibbs, Richard A
Producer: 20100406
In:
The New England journal of medicine vol. 362
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277.
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Molecular diagnostic experience of whole-exome sequencing in adult patients. [electronic resource] by
- Posey, Jennifer E
- Rosenfeld, Jill A
- James, Regis A
- Bainbridge, Matthew
- Niu, Zhiyv
- Wang, Xia
- Dhar, Shweta
- Wiszniewski, Wojciech
- Akdemir, Zeynep H C
- Gambin, Tomasz
- Xia, Fan
- Person, Richard E
- Walkiewicz, Magdalena
- Shaw, Chad A
- Sutton, V Reid
- Beaudet, Arthur L
- Muzny, Donna
- Eng, Christine M
- Yang, Yaping
- Gibbs, Richard A
- Lupski, James R
- Boerwinkle, Eric
- Plon, Sharon E
Producer: 20170911
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 18
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278.
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WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. [electronic resource] by
- Laine, Christine M
- Joeng, Kyu Sang
- Campeau, Philippe M
- Kiviranta, Riku
- Tarkkonen, Kati
- Grover, Monica
- Lu, James T
- Pekkinen, Minna
- Wessman, Maija
- Heino, Terhi J
- Nieminen-Pihala, Vappu
- Aronen, Mira
- Laine, Tero
- Kröger, Heikki
- Cole, William G
- Lehesjoki, Anna-Elina
- Nevarez, Lisette
- Krakow, Deborah
- Curry, Cynthia J R
- Cohn, Daniel H
- Gibbs, Richard A
- Lee, Brendan H
- Mäkitie, Outi
Producer: 20130521
In:
The New England journal of medicine vol. 368
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279.
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Novel somatic and germline mutations in intracranial germ cell tumours. [electronic resource] by
- Wang, Linghua
- Yamaguchi, Shigeru
- Burstein, Matthew D
- Terashima, Keita
- Chang, Kyle
- Ng, Ho-Keung
- Nakamura, Hideo
- He, Zongxiao
- Doddapaneni, Harshavardhan
- Lewis, Lora
- Wang, Mark
- Suzuki, Tomonari
- Nishikawa, Ryo
- Natsume, Atsushi
- Terasaka, Shunsuke
- Dauser, Robert
- Whitehead, William
- Adekunle, Adesina
- Sun, Jiayi
- Qiao, Yi
- Marth, Gábor
- Muzny, Donna M
- Gibbs, Richard A
- Leal, Suzanne M
- Wheeler, David A
- Lau, Ching C
Producer: 20140917
In:
Nature vol. 511
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280.
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Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study. [electronic resource] by
- Hsu, Yi-Hsiang
- Li, Guo
- Liu, Ching-Ti
- Brody, Jennifer A
- Karasik, David
- Chou, Wen-Chi
- Demissie, Serkalem
- Nandakumar, Kannabiran
- Zhou, Yanhua
- Cheng, Chia-Ho
- Gill, Richard
- Gibbs, Richard A
- Muzny, Donna
- Santibanez, Jireh
- Estrada, Karol
- Rivadeneira, Fernando
- Harris, Tamara
- Gudnason, Vilmundur
- Uitterlinden, Andre
- Psaty, Bruce M
- Robbins, John A
- Adrienne Cupples, L
- Kiel, Douglas P
Producer: 20170724
In:
Human molecular genetics vol. 25
Availability: No items available.
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