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Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand
- Wanicha Tepakhan
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| Open Access
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders
- Emilie M. Wigdor
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Predicted genetic burden and frequency of phenotype-associated variants in the horse
- S. A. Durward-Akhurst
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| Open AccessDarier disease is associated with neurodegenerative disorders and epilepsy
- Philip Curman
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| Open AccessUnexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa
- Luisa Sophie Rajcsanyi
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Bone scan findings of Paget’s disease of bone in patients with VCP Multisystem Proteinopathy 1
- Rod Carlo Agram Columbres
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Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder
- Abdulfatah M. Alayoubi
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Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing
- François Lecoquierre
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- & Gaël Nicolas
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A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD
- Tiago Fernando Chaves
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Relative synonymous codon usage and codon pair analysis of depression associated genes
- Rekha Khandia
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- & Nigel H. Greig
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Effects of nonalcoholic fatty liver disease on sarcopenia: evidence from genetic methods
- Jiaqin Yuan
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Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome
- Quentin Hennocq
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Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number
- Adriana Koller
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Exploratory study of cold hypersensitivity in Japanese women: genetic associations and somatic symptom burden
- Xuefeng Wu
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- & Masaru Mimura
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Associations between low serum levels of ANRIL and some common gene SNPs in Iranian patients with premature coronary artery disease
- Elham Taheri Bajgan
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Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population
- Shaoli Sarker
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The diagnostic yield of exome sequencing in liver diseases from a curated gene panel
- Xiao-Fei Kong
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| Open Access
Genome interpretation in a federated learning context allows the multi-center exome-based risk prediction of Crohn’s disease patients
- Daniele Raimondi
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Naturally occurring canine laminopathy leading to a dilated and fibrosing cardiomyopathy in the Nova Scotia Duck Tolling Retriever
- Danika L. Bannasch
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Telomere length and hTERT genetic variants as potential prognostic markers in multiple myeloma
- Marta Dratwa
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Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma
- Sára Pálla
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Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria
- Zeinab S. Abdelkhalek
- , Iman G. Mahmoud
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| Open Access
Proteomic and phosphoproteomic analyses of myectomy tissue reveals difference between sarcomeric and genotype-negative hypertrophic cardiomyopathy
- Ramin Garmany
- , J. Martijn Bos
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Article
| Open AccessGenotypic variability in patients with clinical diagnosis of Bartter syndrome type 3
- Alejandro García-Castaño
- , Sara Gómez-Conde
- & Leire Madariaga
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| Open Access
Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy
- Hiroko Ueda
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- & Hiroyasu Tsukaguchi
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| Open Access
Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion
- Wittaya Jomoui
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| Open Access
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)
- Gary Leggatt
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| Open Access
Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients
- Kenji Nakamichi
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- & Debarshi Mustafi
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| Open Access
Identification, characterization, and prognosis investigation of pivotal genes shared in different stages of breast cancer
- Foad Rommasi
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| Open Access
Genomic surveillance identifies potential risk factors for SARS-CoV-2 transmission at a mid-sized university in a small rural town
- Kimberly R. Andrews
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A novel mucopolysaccharidosis type II mouse model with an iduronate-2-sulfatase-P88L mutation
- Ryuichi Mashima
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| Open Access
Ancient DNA suggests anaemia and low bone mineral density as the cause for porotic hyperostosis in ancient individuals
- Manuel Ferrando-Bernal
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Neuropathological signatures revealed by transcriptomic and proteomic analysis in Pten-deficient mouse models
- Stanley K. K. Cheung
- , Jacinda Kwok
- & Andrew M. Chan
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Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis
- Teng-Hui Wu
- , Jing Peng
- & Fang He
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Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants
- Suphalak Chokvithaya
- , Natarin Caengprasath
- & Vorasuk Shotelersuk
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Influence of variability in the cyclooxygenase pathway on cardiovascular outcomes of nephrosclerosis patients
- Luz M. González
- , Nicolás R. Robles
- & Guillermo Gervasini
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A novel NONO variant that causes developmental delay and cardiac phenotypes
- Toshiyuki Itai
- , Atsushi Sugie
- & Naomichi Matsumoto
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Microdeletions and microduplications linked to severe congenital disorders in infertile men
- Triin Kikas
- , Anna Maria Punab
- & Maris Laan
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Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants
- François Brazier
- , Marie Courbebaisse
- & Dominique Prié
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Evaluation of congenital and acquired heart diseases in a Spanish cohort of adults with Down syndrome
- Laura Rabes
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- & Diego Real de Asúa
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Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype
- Magdalena Koczkowska
- , Marcin Jąkalski
- & Arkadiusz Piotrowski
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Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
- Marianthi Karali
- , Francesco Testa
- & Sandro Banfi
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| Open Access
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families
- Ghalia Al-Kasbi
- , Fathiya Al-Murshedi
- & Almundher Al-Maawali
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Approaches to long-read sequencing in a clinical setting to improve diagnostic rate
- Erica Sanford Kobayashi
- , Serge Batalov
- & Matthew N. Bainbridge
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| Open Access
De-novo and genome-wide meta-analyses identify a risk haplotype for congenital sensorineural deafness in Dalmatian dogs
- B. Haase
- , C. E. Willet
- & C. M. Wade
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| Open Access
Ortholog genes from cactophilic Drosophila provide insight into human adaptation to hallucinogenic cacti
- Julian Padró
- , Diego N. De Panis
- & Ignacio M. Soto
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| Open Access
Detection of repeat expansions in large next generation DNA and RNA sequencing data without alignment
- L. G. Fearnley
- , M. F. Bennett
- & M. Bahlo
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| Open Access
Evidence for correlations between BMI-associated SNPs and circRNAs
- Luisa Sophie Rajcsanyi
- , Inga Diebels
- & Anke Hinney
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| Open Access
Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia
- Suvi P. M. Douglas
- , Atte K. Lahtinen
- & Outi Kilpivaara
ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder