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Volume 1
Main
npj Genomic Medicine
Volume 1
npj Genomic Medicine
Volume 1
1
Non-coding RNAs profiling in head and neck cancers
Salyakina, Daria
,
Tsinoremas, Nicholas F
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 2.05 MB
Your tags:
english, 2016
2
Pathogenic landscape of idiopathic male infertility: new insight towards its regulatory networks
Kothandaraman, Narasimhan
,
Agarwal, Ashok
,
Abu-Elmagd, Muhammad
,
Al-Qahtani, Mohammed H
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 2.12 MB
Your tags:
english, 2016
3
Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore
Wong, Edward S Y
,
Shekar, Sandhya
,
Met-Domestici, Marie
,
Chan, Claire
,
Sze, Melody
,
Yap, Yoon Sim
,
Rozen, Steven G
,
Tan, Min-Han
,
Ang, Peter
,
Ngeow, Joanne
,
Lee, Ann S G
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 654 KB
Your tags:
english, 2016
4
Integrative genomics analyses unveil downstream biological effectors of disease-specific polymorphisms buried in intergenic regions
Li, Haiquan
,
Achour, Ikbel
,
Bastarache, Lisa
,
Berghout, Joanne
,
Gardeux, Vincent
,
Li, Jianrong
,
Lee, Younghee
,
Pesce, Lorenzo
,
Yang, Xinan
,
Ramos, Kenneth S
,
Foster, Ian
,
Denny, Joshua C
,
Moore, Jason
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.19 MB
Your tags:
english, 2016
5
Genome-wide characteristics of de novo mutations in autism
Yuen, Ryan KC
,
Merico, Daniele
,
Cao, Hongzhi
,
Pellecchia, Giovanna
,
Alipanahi, Babak
,
Thiruvahindrapuram, Bhooma
,
Tong, Xin
,
Sun, Yuhui
,
Cao, Dandan
,
Zhang, Tao
,
Wu, Xueli
,
Jin, Xin
,
Zhou, Ze
,
Liu, Xi
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.03 MB
Your tags:
english, 2016
6
A prognostic signature based on three-genes expression in triple-negative breast tumours with residual disease
Pinto, Joseph A
,
Araujo, Jhajaira
,
Cardenas, Nadezhda K
,
Morante, Zaida
,
Doimi, Franco
,
Vidaurre, Tatiana
,
Balko, Justin M
,
Gomez, Henry L
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.16 MB
Your tags:
english, 2016
7
Ranking factors involved in diabetes remission after bariatric surgery using machine-learning integrating clinical and genomic biomarkers
Pedersen, Helle Krogh
,
Gudmundsdottir, Valborg
,
Pedersen, Mette Krogh
,
Brorsson, Caroline
,
Brunak, Søren
,
Gupta, Ramneek
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 2.71 MB
Your tags:
english, 2016
8
Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care
Rennert, Hanna
,
Eng, Kenneth
,
Zhang, Tuo
,
Tan, Adrian
,
Xiang, Jenny
,
Romanel, Alessandro
,
Kim, Robert
,
Tam, Wayne
,
Liu, Yen-Chun
,
Bhinder, Bhavneet
,
Cyrta, Joanna
,
Beltran, Himisha
,
Robinson, Brian
,
M
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 3.68 MB
Your tags:
english, 2016
9
Precision medicine in heritable cancer: when somatic tumour testing and germline mutations meet
Ngeow, Joanne
,
Eng, Charis
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 258 KB
Your tags:
english, 2016
10
A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype
Weisfeld-Adams, James D
,
Tkachuk, Amanda K
,
Maclean, Kenneth N
,
Meeks, Naomi L
,
Scott, Stuart A
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.24 MB
Your tags:
english, 2016
11
Metastatic basal cell carcinoma with amplification of PD-L1: exceptional response to anti-PD1 therapy
Ikeda, Sadakatsu
,
Goodman, Aaron M
,
Cohen, Philip R
,
Jensen, Taylor J
,
Ellison, Christopher K
,
Frampton, Garrett
,
Miller, Vincent
,
Patel, Sandip P
,
Kurzrock, Razelle
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.25 MB
Your tags:
english, 2016
12
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Stavropoulos, Dimitri J
,
Merico, Daniele
,
Jobling, Rebekah
,
Bowdin, Sarah
,
Monfared, Nasim
,
Thiruvahindrapuram, Bhooma
,
Nalpathamkalam, Thomas
,
Pellecchia, Giovanna
,
Yuen, Ryan K C
,
Szego, Michael J
,
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 589 KB
Your tags:
english, 2016
13
FetalQuantSD: accurate quantification of fetal DNA fraction by shallow-depth sequencing of maternal plasma DNA
Jiang, Peiyong
,
Peng, Xianlu
,
Su, Xiaoxi
,
Sun, Kun
,
Yu, Stephanie C Y
,
Chu, Weng In
,
Leung, Tak Y
,
Sun, Hao
,
Chiu, Rossa W K
,
Lo, Yuk Ming Dennis
,
Chan, Kwan Chee Allen
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.60 MB
Your tags:
english, 2016
14
Clinical detection of deletion structural variants in whole-genome sequences
Noll, Aaron C
,
Miller, Neil A
,
Smith, Laurie D
,
Yoo, Byunggil
,
Fiedler, Stephanie
,
Cooley, Linda D
,
Willig, Laurel K
,
Petrikin, Josh E
,
Cakici, Julie
,
Lesko, John
,
Newton, Angela
,
Detherage, Kali
,
Thi
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.40 MB
Your tags:
english, 2016
15
Germline hemizygous deletion of CDKN2A–CDKN2B locus in a patient presenting with Li–Fraumeni syndrome
Chan, Sock Hoai
,
Lim, Weng Khong
,
Michalski, Scott T
,
Lim, Jing Quan
,
Ishak, Nur Diana Binte
,
Met-Domestici, Marie
,
Young, Cedric Ng Chuan
,
Vikstrom, Karen
,
Esplin, Edward D
,
Fulbright, Jennifer
,
Ang,
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.60 MB
Your tags:
english, 2016
16
Noninvasive prenatal testing complicated by maternal malignancy: new tools for a complex problem
Lo, Y M Dennis
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 220 KB
Your tags:
english, 2016
17
Hypoxia-driven splicing into noncoding isoforms regulates the DNA damage response
Memon, Danish
,
Dawson, Keren
,
Smowton, Christopher SF
,
Xing, Wei
,
Dive, Caroline
,
Miller, Crispin J
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.85 MB
Your tags:
english, 2016
18
Mechanistic signatures of HPV insertions in cervical carcinomas
Holmes, Allyson
,
Lameiras, Sonia
,
Jeannot, Emmanuelle
,
Marie, Yannick
,
Castera, Laurent
,
Sastre-Garau, Xavier
,
Nicolas, Alain
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 3.70 MB
Your tags:
english, 2016
19
The importance of copy number variation in congenital heart disease
Costain, Gregory
,
Silversides, Candice K
,
Bassett, Anne S
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 983 KB
Your tags:
english, 2016
20
Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease
Robinson, Philip C
,
Leo, Paul J
,
Pointon, Jennifer J
,
Harris, Jessica
,
Cremin, Katie
,
Bradbury, Linda A
,
Stebbings, Simon
,
Harrison, Andrew A
,
Duncan, Emma L
,
Evans, David M
,
Wordsworth, Paul B
,
Brown
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 378 KB
Your tags:
english, 2016
21
The ONDRISeq panel: custom-designed next-generation sequencing of genes related to neurodegeneration
Farhan, Sali M K
,
Dilliott, Allison A
,
Ghani, Mahdi
,
Sato, Christine
,
Liang, Eric
,
Zhang, Ming
,
McIntyre, Adam D
,
Cao, Henian
,
Racacho, Lemuel
,
Robinson, John F
,
Strong, Michael J
,
Masellis, Mario
,
St
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 890 KB
Your tags:
english, 2016
22
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients
Mak, Christopher C Y
,
Chow, Pak Cheong
,
Liu, Anthony P Y
,
Chan, Kelvin Y K
,
Chu, Yoyo W Y
,
Mok, Gary T K
,
Leung, Gordon K C
,
Yeung, Kit San
,
Chau, Adolphus K T
,
Lowther, Chelsea
,
Scherer, Stephen W
,
M
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 2.42 MB
Your tags:
english, 2016
23
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance
Woods, Nicholas T
,
Baskin, Rebekah
,
Golubeva, Volha
,
Jhuraney, Ankita
,
De-Gregoriis, Giuliana
,
Vaclova, Tereza
,
Goldgar, David E
,
Couch, Fergus J
,
Carvalho, Marcelo Alex
,
Iversen, Edwin S
,
Monteiro, A
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.27 MB
Your tags:
english, 2016
24
Machine-learning approach identifies a pattern of gene expression in peripheral blood that can accurately detect ischaemic stroke
O’Connell, Grant C
,
Petrone, Ashley B
,
Treadway, Madison B
,
Tennant, Connie S
,
Lucke-Wold, Noelle
,
Chantler, Paul D
,
Barr, Taura L
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 681 KB
Your tags:
english, 2016
25
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences
Twist, Greyson P
,
Gaedigk, Andrea
,
Miller, Neil A
,
Farrow, Emily G
,
Willig, Laurel K
,
Dinwiddie, Darrell L
,
Petrikin, Josh E
,
Soden, Sarah E
,
Herd, Suzanne
,
Gibson, Margaret
,
Cakici, Julie A
,
Riffel,
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.09 MB
Your tags:
english, 2016
26
A perspective for sequencing familial hypercholesterolaemia in African Americans
Wright, Michelle L
,
Housman, David
,
Taylor, Jacquelyn Y
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 281 KB
Your tags:
english, 2016
27
An asymptomatic mutation complicating severe chemotherapy-induced peripheral neuropathy (CIPN): a case for personalised medicine and a zebrafish model of CIPN
Holloway, Michael P
,
DeNardo, Bradley D
,
Phornphutkul, Chanika
,
Nguyen, Kevin
,
Davis, Colby
,
Jackson, Cynthia
,
Richendrfer, Holly
,
Creton, Robbert
,
Altura, Rachel A
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.47 MB
Your tags:
english, 2016
28
Genomic medicine goes mainstream
Scherer, Stephen W
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 220 KB
Your tags:
english, 2016
29
Genomic medicine in the military
De Castro, Mauricio
,
Biesecker, Leslie G
,
Turner, Clesson
,
Brenner, Ruth
,
Witkop, Catherine
,
Mehlman, Maxwell
,
Bradburne, Chris
,
Green, Robert C
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 283 KB
Your tags:
english, 2016
30
Genome-wide methylation analysis identifies genes silenced in non-seminoma cell lines
Noor, Dzul Azri Mohamed
,
Jeyapalan, Jennie N
,
Alhazmi, Safiah
,
Carr, Matthew
,
Squibb, Benjamin
,
Wallace, Claire
,
Tan, Christopher
,
Cusack, Martin
,
Hughes, Jaime
,
Reader, Tom
,
Shipley, Janet
,
Sheer, De
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 2.87 MB
Your tags:
english, 2016
31
Assessment of clinical workload for general and specialty genetic counsellors at an academic medical center: a tool for evaluating genetic counselling practices
Heald, Brandie
,
Rybicki, Lisa
,
Clements, Diane
,
Marquard, Jessica
,
Mester, Jessica
,
Noss, Ryan
,
Nardini, Monica
,
Polk, Jill
,
Psensky, Brittany
,
Rigelsky, Christina
,
Schreiber, Allison
,
Shealy, Amy
,
Sm
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 392 KB
Your tags:
english, 2016
32
Lead toxicity and genetics in Flint, MI
Taylor, Jacquelyn Y
,
Wright, Michelle L
,
Housman, David
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 225 KB
Your tags:
english, 2016
33
Sharing health-related data: a privacy test?
Dyke, Stephanie OM
,
Dove, Edward S
,
Knoppers, Bartha M
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 438 KB
Your tags:
english, 2016
34
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation
Ge, Xiaoyan
,
Gong, Henry
,
Dumas, Kevin
,
Litwin, Jessica
,
Phillips, Joanna J
,
Waisfisz, Quinten
,
Weiss, Marjan M
,
Hendriks, Yvonne
,
Stuurman, Kyra E
,
Nelson, Stanley F
,
Grody, Wayne W
,
Lee, Hane
,
Kwok,
Journal:
npj Genomic Medicine
Year:
2016
Language:
english
File:
PDF, 1.15 MB
Your tags:
english, 2016
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