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Comparison of antithrombin activity assays in detection of patients with heparin binding site antithrombin deficiency: systematic review and meta-analysis
- Tamara Rojnik
- , Nataša Sedlar
- & Mojca Božič Mijovski
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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies
- Atta Ur Rehman
- , Neda Sepahi
- & Carlo Rivolta
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An evaluation of approaches for rare variant association analyses of binary traits in related samples
- Ming-Huei Chen
- , Achilleas Pitsillides
- & Qiong Yang
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A large deletion on CFA28 omitting ACSL5 gene is associated with intestinal lipid malabsorption in the Australian Kelpie dog breed
- Mitchell J. O’Brien
- , Niek J. Beijerink
- & Claire M. Wade
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An integrated Asian human SNV and indel benchmark established using multiple sequencing methods
- Chuanfeng Huang
- , Libin Shao
- & Jie Huang
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Whole genome sequence analysis reveals genetic structure and X-chromosome haplotype structure in indigenous Chinese pigs
- Xiong Tong
- , Lianjie Hou
- & Chong Wang
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| Open AccessSystematic sequence analysis of the FUT3 gene identifies 11 novel alleles in the Sindhi and Punjabi populations from Pakistan
- Maomao Zhao
- , Atif Adnan
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| Open AccessExome Sequencing in Individuals with Isolated Biliary Atresia
- Ramakrishnan Rajagopalan
- , Ellen A. Tsai
- & Marcella Devoto
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Genetics of cognitive trajectory in Brazilians: 15 years of follow-up from the Bambuí-Epigen Cohort Study of Aging
- Mateus H. Gouveia
- , Cibele C. Cesar
- & Maria Fernanda Lima-Costa
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Implications of genetic variation of common Drug Metabolizing Enzymes and ABC Transporters among the Pakistani Population
- Nasir Ali Afsar
- , Henrike Bruckmueller
- & Ingolf Cascorbi
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Reconstructing recent population history while mapping rare variants using haplotypes
- Ural Yunusbaev
- , Albert Valeev
- & Bayazit Yunusbayev
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Whole-Exome Sequencing in the Isolated Populations of Cilento from South Italy
- T. Nutile
- , D. Ruggiero
- & M. Ciullo
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MtDNA population variation in Myalgic encephalomyelitis/Chronic fatigue syndrome in two populations: a study of mildly deleterious variants
- Marianne Venter
- , Cara Tomas
- & Joanna L. Elson
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The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits
- Sanghoon Moon
- , Young Jin Kim
- & Bong-Jo Kim
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Detecting the dominance component of heritability in isolated and outbred human populations
- Anthony F. Herzig
- , Teresa Nutile
- & Anne-Louise Leutenegger
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A complete Leishmania donovani reference genome identifies novel genetic variations associated with virulence
- Patrick Lypaczewski
- , Johanna Hoshizaki
- & Greg Matlashewski
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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics
- Sumi Elsa John
- , Dinu Antony
- & Thangavel Alphonse Thanaraj
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Frequencies of poor metabolizer alleles of 12 pharmacogenomic actionable genes in Punjabi Sikhs of Indian Origin
- Dharambir K. Sanghera
- , Cynthia Bejar
- & Sarju Ralhan
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Population level mitogenomics of long-lived bats reveals dynamic heteroplasmy and challenges the Free Radical Theory of Ageing
- David Jebb
- , Nicole M. Foley
- & Emma C. Teeling
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Common and rare variants of WNT16, DKK1 and SOST and their relationship with bone mineral density
- Núria Martínez-Gil
- , Neus Roca-Ayats
- & Susana Balcells
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Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability
- Bryn S. Moore
- & Tooraj Mirshahi
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Genetic diversity in the endangered terrestrial orchid Cypripedium japonicum in East Asia: Insights into population history and implications for conservation
- Huai Zhen Tian
- , Li Xia Han
- & Mi Yoon Chung
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Large sub-clonal variation in Phytophthora infestans from recent severe late blight epidemics in India
- Tanmoy Dey
- , Amanda Saville
- & Sanjoy Guha Roy
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Somatic Mitochondrial DNA Mutations in Diffuse Large B-Cell Lymphoma
- Andy G. X. Zeng
- , Andy C. Y. Leung
- & Angela R. Brooks-Wilson
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Population genetic structure of Diaphorina citri Kuwayama (Hemiptera: Liviidae): host-driven genetic differentiation in China
- Lixue Meng
- , Yongmo Wang
- & Hongyu Zhang
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Rare non-coding variants are associated with plasma lipid traits in a founder population
- Catherine Igartua
- , Sahar V. Mozaffari
- & Carole Ober
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Direct estimation of de novo mutation rates in a chimpanzee parent-offspring trio by ultra-deep whole genome sequencing
- Shoji Tatsumoto
- , Yasuhiro Go
- & Asao Fujiyama
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Genetic variants affecting equivalent protein family positions reflect human diversity
- Francesco Raimondi
- , Matthew J. Betts
- & Robert B. Russell
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Fine population structure analysis method for genomes of many
- Xuedong Pan
- , Yi Wang
- & Li Jin
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The genetic variation rs12143842 in NOS1AP increases idiopathic ventricular tachycardia risk in Chinese Han populations
- Ronfeng Zhang
- , Feifei Chen
- & Yunlong Xia
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Genetic variation and population structure of Botswana populations as identified with AmpFLSTR Identifiler short tandem repeat (STR) loci
- Tiroyamodimo Tau
- , Anthony Wally
- & María Eugenia D’Amato
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Phylogeographical structure and demographic expansion in the endemic alpine stream salamander (Hynobiidae: Batrachuperus) of the Qinling Mountains
- Zu-Shi Huang
- , Feng-Lan Yu
- & Qiong Zhang
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Common sequence variants affect molecular function more than rare variants?
- Yannick Mahlich
- , Jonas Reeb
- & Burkhard Rost
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Malaria was a weak selective force in ancient Europeans
- Pere Gelabert
- , Iñigo Olalde
- & Carles Lalueza-Fox
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The underlying process of early ecological and genetic differentiation in a facultative mutualistic Sinorhizobium meliloti population
- Nicolás Toro
- , Pablo J. Villadas
- & Miguel A. Rodríguez-Carvajal
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Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort
- Hui Guo
- , Yu Peng
- & Kun Xia
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A novel dominant GJB2 (DFNA3) mutation in a Chinese family
- Hongyang Wang
- , Kaiwen Wu
- & Qiuju Wang
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Dysregulation of WTI (−KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation
- Gentzon Hall
- , Brandon Lane
- & Rasheed Gbadegesin
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Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India
- Ekta Rai
- , Ankit Mahajan
- & Swarkar Sharma
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IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation
- Yavuz Oktay
- , Ege Ülgen
- & Koray Özduman
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Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis
- Jia-Kai Li
- , Ping Fei
- & Peiquan Zhao
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NGS-based Molecular diagnosis of 105 eyeGENE® probands with Retinitis Pigmentosa
- Zhongqi Ge
- , Kristen Bowles
- & Rui Chen
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MIG-seq: an effective PCR-based method for genome-wide single-nucleotide polymorphism genotyping using the next-generation sequencing platform
- Yoshihisa Suyama
- & Yu Matsuki
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Evaluation of regulatory genetic variants in POU5F1 and risk of congenital heart disease in Han Chinese
- Yuan Lin
- , Chenyue Ding
- & Zhibin Hu
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Genome-wide association study of 29 morphological traits in Aegilops tauschii
- Yaxi Liu
- , Lang Wang
- & Youliang Zheng
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Clock gene polymorphism and scheduling of migration: a geolocator study of the barn swallow Hirundo rustica
- Gaia Bazzi
- , Roberto Ambrosini
- & Diego Rubolini
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Complex trait architecture: the pleiotropic model revisited
- T.-L. North
- & M. A. Beaumont
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Are polymorphisms of the immunoregulatory factor CD40LG implicated in acute transfusion reactions?
- Chaker Aloui
- , Caroline Sut
- & Sandrine Laradi
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Global human frequencies of predicted nuclear pathogenic variants and the role played by protein hydrophobicity in pathogenicity potential
- Luísa Pereira
- , Pedro Soares
- & David C. Samuels
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders