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Volume 10; Issue 1
Main
Human Genomics
Volume 10; Issue 1
Human Genomics
Volume 10; Issue 1
1
The clinical trial landscape in oncology and connectivity of somatic mutational profiles to targeted therapies
Patterson, Sara E.
,
Liu, Rangjiao
,
Statz, Cara M.
,
Durkin, Daniel
,
Lakshminarayana, Anuradha
,
Mockus, Susan M.
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 2.33 MB
Your tags:
english, 2016
2
Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes
Domitrz, Izabela
,
Kosiorek, Michalina
,
Żekanowski, Cezary
,
Kamińska, Anna
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 3.33 MB
Your tags:
english, 2016
3
Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility
Bruse, Shannon
,
Moreau, Michael
,
Bromberg, Yana
,
Jang, Jun-Ho
,
Wang, Nan
,
Ha, Hongseok
,
Picchi, Maria
,
Lin, Yong
,
Langley, Raymond J.
,
Qualls, Clifford
,
Klensney-Tait, Julia
,
Zabner, Joseph
,
Leng, Shu
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 1.89 MB
Your tags:
english, 2016
4
Intragraft transcriptional profiling of renal transplant patients with tubular dysfunction reveals mechanisms underlying graft injury and recovery
Azevedo, Hátylas
,
Renesto, Paulo Guilherme
,
Chinen, Rogério
,
Naka, Erika
,
de Matos, Ana Cristina Carvalho
,
Cenedeze, Marcos Antônio
,
Moreira-Filho, Carlos Alberto
,
Câmara, Niels Olsen Saraiva
,
Pacheco
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 1.64 MB
Your tags:
english, 2016
5
Erratum to: Copy number variation inCEP57L1predisposes to congenital absence of bilateral ACL and PCL ligaments
Liu, Yichuan
,
Li, Yun
,
March, Michael E.
,
Nguyen, Kenny
,
Xu, Kexiang
,
Wang, Fengxiang
,
Guo, Yiran
,
Keating, Brendan
,
Glessner, Joseph
,
Li, Jiankang
,
Ganley, Theodore J.
,
Zhang, Jianguo
,
Deardorff, Mat
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 335 KB
Your tags:
english, 2016
6
A review of the new HGNC gene family resource
Gray, Kristian A
,
Seal, Ruth L
,
Tweedie, Susan
,
Wright, Mathew W
,
Bruford, Elspeth A
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 871 KB
Your tags:
english, 2016
7
Reviewer acknowledgement 2015
Vasiliou, Vasilis
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 270 KB
Your tags:
english, 2016
8
Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry
Pietropolli, Adalgisa
,
Capogna, Maria Vittoria
,
Cascella, Raffaella
,
Germani, Chiara
,
Bruno, Valentina
,
Strafella, Claudia
,
Sarta, Simona
,
Ticconi, Carlo
,
Marmo, Giusy
,
Gallaro, Sara
,
Longo, Giuliana
,
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 850 KB
Your tags:
english, 2016
9
Organization, evolution and functions of the human and mouse Ly6/uPAR family genes
Loughner, Chelsea L.
,
Bruford, Elspeth A.
,
McAndrews, Monica S.
,
Delp, Emili E.
,
Swamynathan, Sudha
,
Swamynathan, Shivalingappa K.
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 1.55 MB
Your tags:
english, 2016
10
The impact of common polymorphisms inCETPandABCA1genes with the risk of coronary artery disease in Saudi Arabians
Cyrus, Cyril
,
Vatte, Chittibabu
,
Al-Nafie, Awatif
,
Chathoth, Shahanas
,
Al-Ali, Rudaynah
,
Al-Shehri, Abdullah
,
Akhtar, Mohammed Shakil
,
Almansori, Mohammed
,
Al-Muhanna, Fahad
,
Keating, Brendan
,
Al-Ali,
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 406 KB
Your tags:
english, 2016
11
Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population
Zholdybayeva, Elena V.
,
Talzhanov, Yerkebulan A.
,
Aitkulova, Akbota M.
,
Tarlykov, Pavel V.
,
Kulmambetova, Gulmira N.
,
Iskakova, Aisha N.
,
Dzholdasbekova, Aliya U.
,
Visternichan, Olga A.
,
Taizhanova, D
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 740 KB
Your tags:
english, 2016
12
Multiplex SNaPshot—a new simple and efficientCYP2D6andADRB1genotyping method
Ben, Songtao
,
Cooper-DeHoff, Rhonda M.
,
Flaten, Hanna K.
,
Evero, Oghenero
,
Ferrara, Tracey M.
,
Spritz, Richard A.
,
Monte, Andrew A.
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 466 KB
Your tags:
english, 2016
13
Letter to the editor for “Update of the human and mouse Fanconi anemia genes”
Nebert, Daniel W.
,
Dong, Hongbin
,
Bruford, Elspeth A.
,
Thompson, David C.
,
Joenje, Hans
,
Vasiliou, Vasilis
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 641 KB
Your tags:
english, 2016
14
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies
Monies, Dorota
,
Alhindi, Hindi N.
,
Almuhaizea, Mohamed A.
,
Abouelhoda, Mohamed
,
Alazami, Anas M.
,
Goljan, Ewa
,
Alyounes, Banan
,
Jaroudi, Dyala
,
AlIssa, Abdulelah
,
Alabdulrahman, Khalid
,
Subhani, Shazi
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 349 KB
Your tags:
english, 2016
15
Navigating the dynamic landscape of long noncoding RNA and protein-coding gene annotations in GENCODE
Jalali, Saakshi
,
Gandhi, Shrey
,
Scaria, Vinod
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 1.80 MB
Your tags:
english, 2016
16
Exome sequencing disclosesKALRNhomozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree
Makrythanasis, Periklis
,
Guipponi, Michel
,
Santoni, Federico A.
,
Zaki, Maha
,
Issa, Mahmoud Y.
,
Ansar, Muhammad
,
Hamamy, Hanan
,
Antonarakis, Stylianos E.
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 1.63 MB
Your tags:
english, 2016
17
An efficient method for protein function annotation based on multilayer protein networks
Zhao, Bihai
,
Hu, Sai
,
Li, Xueyong
,
Zhang, Fan
,
Tian, Qinglong
,
Ni, Wenyin
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 1.95 MB
Your tags:
english, 2016
18
A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease
Ferreira, Elisa Napolitano
,
Barros, Bruna Durães Figueiredo
,
de Souza, Jorge Estefano
,
Almeida, Renan Valieris
,
Torrezan, Giovana Tardin
,
Garcia, Sheila
,
Krepischi, Ana Cristina Victorino
,
Mello, Cels
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 2.54 MB
Your tags:
english, 2016
19
Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients
Maksemous, Neven
,
Smith, Robert A.
,
Haupt, Larisa M.
,
Griffiths, Lyn R.
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 814 KB
Your tags:
english, 2016
20
Major influence of repetitive elements on disease-associated copy number variants (CNVs)
Cardoso, Ana R.
,
Oliveira, Manuela
,
Amorim, Antonio
,
Azevedo, Luisa
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 477 KB
Your tags:
english, 2016
21
Variation of global DNA methylation levels with age and in autistic children
Tsang, Shui-Ying
,
Ahmad, Tanveer
,
Mat, Flora W. K.
,
Zhao, Cunyou
,
Xiao, Shifu
,
Xia, Kun
,
Xue, Hong
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 515 KB
Your tags:
english, 2016
22
Novel genetic risk variants for pediatric celiac disease
Balasopoulou, Angeliki
,
Stanković, Biljana
,
Panagiotara, Angeliki
,
Nikčevic, Gordana
,
Peters, Brock A.
,
John, Anne
,
Mendrinou, Effrosyni
,
Stratopoulos, Apostolos
,
Legaki, Aigli Ioanna
,
Stathakopoulou,
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 696 KB
Your tags:
english, 2016
23
MicroRNAs in acute kidney injury
Fan, Pei-Chun
,
Chen, Chia-Chun
,
Chen, Yung-Chang
,
Chang, Yu-Sun
,
Chu, Pao-Hsien
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 540 KB
Your tags:
english, 2016
24
AMD and the alternative complement pathway: genetics and functional implications
Tan, Perciliz L.
,
Bowes Rickman, Catherine
,
Katsanis, Nicholas
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 2016
25
Head-and-neck squamous cell carcinoma risk in smokers: no association detected between phenotype andAHR,CYP1A1,CYP1A2, orCYP1B1genotype
Lucia F. Jorge-Nebert,Ge Zhang,Keith M. Wilson,Zhengwen Jiang…
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 651 KB
Your tags:
english, 2016
26
The status ofHer2amplification andKrasmutations in mucinous ovarian carcinoma
Kuang-Leei Chang,Ming-Yung Lee,Wan-Ru Chao,Chih-Ping Han
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 327 KB
Your tags:
english, 2016
27
Proposed nomenclature for microhaplotypes
Kenneth K. Kidd
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 2.22 MB
Your tags:
english, 2016
28
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
S. Fokstuen,P. Makrythanasis,E. Hammar,M. Guipponi,E. Ranza…
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 2016
29
Mutation analysis of theCOL1A1andCOL1A2genes in Vietnamese patients with osteogenesis imperfecta
Binh Ho Duy,Lidiia Zhytnik,Katre Maasalu,Ivo Kändla,Ele Prans…
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 671 KB
Your tags:
english, 2016
30
Transcriptome sequencing of gingival biopsies from chronic periodontitis patients reveals novel gene expression and splicing patterns
Yong-Gun Kim,Minjung Kim,Ji Hyun Kang,Hyo Jeong Kim,Jin-Woo Park…
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 820 KB
Your tags:
english, 2016
31
Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKD
Rita M. C. de Almeida,Sherry G. Clendenon,William G. Richards…
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 3.44 MB
Your tags:
english, 2016
32
Systematic analysis of the molecular mechanism underlying atherosclerosis using a text mining approach
Dan Xi,Jinzhen Zhao,Wenyan Lai,Zhigang Guo
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 2.56 MB
Your tags:
english, 2016
33
Exploring the interaction among EPHX1, GSTP1, SERPINE2, and TGFB1 contributing to the quantitative traits of chronic obstructive pulmonary disease in Chinese Han population
Li An,Yingxiang Lin,Ting Yang,Lin Hua
Journal:
Human Genomics
Year:
2016
Language:
english
File:
PDF, 1.38 MB
Your tags:
english, 2016
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