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| Open AccessEvidence for correlations between BMI-associated SNPs and circRNAs
- Luisa Sophie Rajcsanyi
- , Inga Diebels
- & Anke Hinney
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| Open AccessEnrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia
- Suvi P. M. Douglas
- , Atte K. Lahtinen
- & Outi Kilpivaara
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| Open AccessMacronutrient intake modulates impact of EcoRI polymorphism of ApoB gene on lipid profile and inflammatory markers in patients with type 2 diabetes
- Faezeh Abaj
- & Fariba Koohdani
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| Open AccessAnalysis of rare thalassemia genetic variants based on third-generation sequencing
- Cuiting Peng
- , Haixia Zhang
- & Shanling Liu
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| Open AccessA high-throughput study of visceral organs in CT-scanned pigs
- Øyvind Nordbø
- , Rune Sagevik
- & Eli Grindflek
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| Open AccessPrion protein gene mutation detection using long-read Nanopore sequencing
- François Kroll
- , Athanasios Dimitriadis
- & Emmanuelle Vire
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| Open AccessParental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases
- Caio Robledo D.’Angioli Costa Quaio
- , Jose Ricardo Magliocco Ceroni
- & Chong Ae Kim
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| Open AccessImpact of salivary and pancreatic amylase gene copy numbers on diabetes, obesity, and functional profiles of microbiome in Northern Japanese population
- Takanori Hasegawa
- , Masanori Kakuta
- & Seiya Imoto
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| Open AccessHeterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations
- Dajeong Jeong
- , Sung-Min Kim
- & Dong Soon Lee
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| Open AccessExpanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype
- Till Joscha Demal
- , Tasja Scholz
- & Georg Rosenberger
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| Open AccessBone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity
- Ursula Pia Ferrara
- , Cristina Tortora
- & Daniela Melis
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| Open AccessUnusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India
- Amit Rawat
- , Rahul Tyagi
- & Surjit Singh
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| Open AccessA reassessment of Jackson’s checklist and identification of two Down syndrome sub-phenotypes
- Chiara Locatelli
- , Sara Onnivello
- & Silvia Lanfranchi
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| Open AccessA machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization
- Giovanna Nicora
- , Susanna Zucca
- & Paolo Magni
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| Open AccessAccurate and rapid prediction of tuberculosis drug resistance from genome sequence data using traditional machine learning algorithms and CNN
- Xingyan Kuang
- , Fan Wang
- & Robert L. Grossman
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| Open AccessCongenital collagenopathies increased the risk of inguinal hernia developing and repair: analysis from a nationwide population-based cohort study
- Hao-Han Chang
- , Yung-Shun Juan
- & Jian-Han Chen
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| Open AccessCorrelation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression
- Laura L. Baxter
- , Dawn E. Watkins-Chow
- & Jorge L. Rodriguez-Gil
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| Open AccessAllele-specific transcription factor binding in a cellular model of orofacial clefting
- Katharina L. M. Ruff
- , Ronja Hollstein
- & Kerstin U. Ludwig
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| Open AccessPhenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome
- Masatsugu Masuda
- , Ayako Kanno
- & Tatsuo Matsunaga
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| Open AccessModulated anti-VEGF therapy under the influence of lipid metabolizing proteins in Age related macular degeneration: a pilot study
- Kaushal Sharma
- , Priya Battu
- & Akshay Anand
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| Open AccessFrequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients
- Shin-ya Nishio
- & Shin-ichi Usami
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| Open AccessThe minor T allele of the MUC5B promoter rs35705950 associated with susceptibility to idiopathic pulmonary fibrosis: a meta-analysis
- Xiaozheng Wu
- , Wen Li
- & Yunzhi Chen
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| Open AccessThe mining and construction of a knowledge base for gene-disease association in mitochondrial diseases
- Wei Wang
- , Junying Song
- & Lei Zhang
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| Open AccessClinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
- Gabriela Marchisio Giordani
- , Fabrício Diniz
- & Jonas Alex Morales Saute
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| Open AccessNovel findings from family-based exome sequencing for children with biliary atresia
- Kien Trung Tran
- , Vinh Sy Le
- & Liem Thanh Nguyen
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| Open AccessGene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization
- Tonya Di Sera
- , Matt Velinder
- & Gabor Marth
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| Open AccessCommunication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design
- Chiara L. Blomen
- , Aliaksandra Pott
- & Isabell Witzel
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| Open AccessProposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
- Nina B. Gold
- , Ian M. Campbell
- & Wen-Hann Tan
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| Open AccessWhole 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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| Open AccessGenetic landscape of 125 pharmacogenes in Chinese from the Chinese Millionome Database
- Guangzhao Qi
- , Jingmin Zhang
- & Pengfei Ma
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| Open AccessGenome-wide autosomal, mtDNA, and Y chromosome analysis of King Bela III of the Hungarian Arpad dynasty
- Chuan-Chao Wang
- , Cosimo Posth
- & Béla Melegh
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| Open AccessA single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
- Ben Pode-Shakked
- , Ortal Barel
- & Lior Greenbaum
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| Open AccessInteraction between dietary total antioxidant capacity and BDNF Val66Met polymorphism on lipid profiles and atherogenic indices among diabetic patients
- Faezeh Abaj
- , Masoumeh Rafiee
- & Fariba Koohdani
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| Open AccessGenetic regulation of spermine oxidase activity and cancer risk: a Mendelian randomization study
- João Fadista
- , Victor Yakimov
- & Bjarke Feenstra
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| Open AccessCystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
- Pierre-Henry Gabrielle
- , Laurence Faivre
- & Romain Da Costa
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| Open AccessInteraction between CETP polymorphism and dietary insulin index and load in relation to cardiovascular risk factors in diabetic adults
- Faezeh Abaj
- , Masoumeh Rafiee
- & Fariba Koohdani
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| Open AccessDevelopment and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions
- Cecília Silva
- , Nuno Maia
- & Paula Jorge
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| Open AccessBenchmarking germline CNV calling tools from exome sequencing data
- Veronika Gordeeva
- , Elena Sharova
- & Georgij Arapidi
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| Open AccessTBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss
- Dominika Oziębło
- , Marcin L. Leja
- & Monika Ołdak
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| Open AccessGenetic polymorphisms of inflammasome genes associated with pediatric acute lymphoblastic leukemia and clinical prognosis in the Brazilian Amazon
- Fabíola Silva Alves
- , Lilyane Amorim Xabregas
- & Allyson Guimarães Costa
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| Open AccessThe effect of sirolimus on angiomyolipoma is determined by decrease of fat-poor compartments and includes striking reduction of vascular structures
- Elieser Hitoshi Watanabe
- , Fernando Morbeck Almeida Coelho
- & Luiz Fernando Onuchic
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| Open AccessGenetic variants of programmed cell death 1 are associated with HBV infection and liver disease progression
- Nghiem Xuan Hoan
- , Pham Thi Minh Huyen
- & Le Huu Song
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| Open AccessDescription of the genetic variants identified in a cohort of patients diagnosed with localized anal squamous cell carcinoma and treated with panitumumab
- Lucía Trilla-Fuertes
- , Angelo Gámez-Pozo
- & Jaime Feliu
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| Open AccessEvaluation of genetic diversity and management of disease in Border Collie dogs
- Pamela Xing Yi Soh
- , Wei Tse Hsu
- & Peter Williamson
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| Open AccessOmics data integration identifies ELOVL7 and MMD gene regions as novel loci for adalimumab response in patients with Crohn’s disease
- Mario Gorenjak
- , Mateja Zupin
- & Uroš Potočnik
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| Open AccessThe analysis of GSTA1 promoter genetic and functional diversity of human populations
- Vid Mlakar
- , Patricia Huezo-Diaz Curtis
- & Marc Ansari
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| Open Access-308G/A polymorphism of tumor necrosis factor alpha (TNF-α) gene and metabolic syndrome susceptibility: a meta-analysis
- Dong Wang
- , Liqun He
- & Xiaotian Zhang
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| Open AccessCecr2 mutant mice as a model for human cat eye syndrome
- Renée Dicipulo
- , Kacie A. Norton
- & Heather E. McDermid
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| Open AccessGenetic variants of small airways and interstitial pulmonary disease in children
- Mohammed T. Alsamri
- , Amnah Alabdouli
- & Abdul-Kader Souid