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Open Access
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A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
- Dario Ronchi
- , Manuela Garbellini
- & Giacomo Pietro Comi
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Article
| Open AccessRe-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%
- Tobias Bartolomaeus
- , Julia Hentschel
- & Bernt Popp
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Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
- Alireza Haghighi
- , Zahra Alvandi
- & Robert J. Desnick
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Article
| Open AccessThe contribution of morbidity and unemployment for the reduced labor market participation of individuals with neurofibromatosis 1 in Finland
- Roope A. Kallionpää
- , Edvard Johansson
- & Sirkku Peltonen
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Comment |
No need for options for choice for unsolicited findings in informed consent for clinical genetic testing
- Eline M. Bunnik
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Article
| Open AccessAt a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
- Pilar Guatibonza Moreno
- , Luba M. Pardo
- & Aida Bertoli-Avella
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The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project
- Man Jin Kim
- , Boram Kim
- & Moon-Woo Seong
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Article
| Open AccessGermline pathogenic variants in HNRNPU are associated with alterations in blood methylome
- Sunwoo Lee
- , Eguzkine Ochoa
- & Meena Balasubramanian
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Brief Communication |
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
- Giuseppe Reynolds
- , Simona Cardaropoli
- & Alessandro Mussa
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Article
| Open AccessEpisignature analysis of moderate effects and mosaics
- Konrad Oexle
- , Michael Zech
- & Nazanin Mirza-Schreiber
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BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
- Camille Engel
- , Stéphanie Valence
- & Juliette Piard
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Article
| Open AccessPreimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience
- Vivian Vernimmen
- , Aimée D. C. Paulussen
- & Christine E. M. de Die-Smulders
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Article
| Open AccessThe human genome harbours widespread exclusive yin yang haplotypes
- David Curtis
- & William Amos
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Comment |
The next step toward personalized recommendations for genetic cardiomyopathies
- Sophie L. V. M. Stroeks
- & Job A. J. Verdonschot
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Article
| Open AccessDirect notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public
- Jane M. Tiller
- , Ami Stott
- & Margaret Otlowski
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Consanguineous couples’ experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process
- Sanne van der Hout
- , Anke J. Woudstra
- & Guido de Wert
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Three generation families: Analysis of de novo variants in autism
- Claudia I. Samogy Costa
- , Gabriele da Silva Campos
- & Maria Rita Passos-Bueno
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Article
| Open AccessGustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
- Josefin Johansson
- , Sarah Lidéus
- & Marie-Louise Bondeson
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Brief Communication |
Analysis of large-language model versus human performance for genetics questions
- Dat Duong
- & Benjamin D. Solomon
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Article |
An adaptive and robust method for multi-trait analysis of genome-wide association studies using summary statistics
- Qiaolan Deng
- , Chi Song
- & Shili Lin
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Article |
New insights into the molecular basis of spinal neurofibromatosis type 1
- Paola Bettinaglio
- , Eleonora Mangano
- & Paola Riva
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Diagnostic and prognostic relevance of using large gene panels in the genetic testing of patients with dilated cardiomyopathy
- Sophie L. V. M. Stroeks
- , Debby Hellebrekers
- & Job A. J. Verdonschot
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Article
| Open AccessBroadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals
- Henrike L. Sczakiel
- , Max Zhao
- & Felix Boschann
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2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review
- Malek Bouassida
- , Matthieu Egloff
- & Bérénice Hervé
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Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss
- Christel Vaché
- , Nicolas Cubedo
- & Anne-Françoise Roux
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Article
| Open AccessCommunity concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing
- Jane Tiller
- , Andrew Bakshi
- & Paul Lacaze
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Comment |
Dopa-responsive dystonia in Bulgarian patients: report of three cases
Dopa-responsive dystonia (DRD) comprises a group of rare autosomal inherited neurotransmitter disorders characterized with childhood or adulthood onset. We report three cases of DRD. Two boys (1.5-year-old and 1.3-year-old) were diagnosed with TH deficiency and found to have compound heterozygous missense variants in the TH gene. For the first patient p.Arg202His and the p.Leu205Pro in the TH gene, were reported. In the second patient were revealed p.Thr373Met and p.Arg202His variants in the same gene. The third patient, a 10-years old boy was diagnosed with GCH1 deficiency due to heterozygous pathogenic variant (p.Lys224Arg) in the GCH1 gene. The diagnosis of DRD was determined by whole exome sequencing (Patient 1) and whole genome sequencing (Patients 2 and 3). Here, we describe the first two patients with TH deficiency in Bulgaria and one with GCH1 deficiency. We also review the molecular mechanism of the disorder and summarized the reported pathogenic or likely pathogenic variants in the TH and GCH1 genes. The disorder has broad clinical and genetic heterogeneity which is often misdiagnosed. Our aim is to improve awareness for the DRD, especially in Bulgaria because early diagnosis is essential for the better prognosis and therapy outcome.
- Maya Atanasoska
- , Radoslava Vazharova
- & Draga Toncheva
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Brief Communication
| Open AccessAbdominal obesity is a more important causal risk factor for pancreatic cancer than overall obesity
- Jared G. Maina
- , Vincent Pascat
- & Inga Prokopenko
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Article |
Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations
- Fiona Lynch
- , Yan Meng
- & Danya F. Vears
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Article
| Open AccessExpanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
- Gholson J. Lyon
- , Marall Vedaie
- & Ellen Herr-Israel
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Comment
| Open AccessHuman molecular genetics sheds light on the physiological significance of ribonuclease inhibitor (RNH1)
- Mayuresh Anant Sarangdhar
- , Nicola Andina
- & Ramanjaneyulu Allam
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Article
| Open AccessHighly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses
- Sushma Singh
- , Cindy Penney
- & Terry-Lynn Young
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Review Article
| Open AccessThe expanding genetic and clinical landscape associated with Meier-Gorlin syndrome
- Emily Nielsen-Dandoroff
- , Mischa S. G. Ruegg
- & Louise S. Bicknell
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Article |
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
- Manuela Priolo
- , Erika Zara
- & Marco Tartaglia
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Article |
STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications
- Noam Hadar
- , Ginat Narkis
- & Ohad S. Birk
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Comment |
The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases
- Abderaouf Hamza
- , Carine El-Sissy
- & Laurent Mesnard
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Comment |
Studying ultra-rare variants in STX1A uncovers a novel neurodevelopmental disorder
- Esmeralda Villavicencio Gonzalez
- & Ryan S. Dhindsa
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Article |
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
- Ilse Parijs
- , Nathalie Brison
- & Joris Robert Vermeesch
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Comment |
Uncovering the genetic architecture of paediatric moyamoya angiopathy: implications for disease pathogenesis
- Hiroyuki Ishiyama
- & Masafumi Ihara
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Article
| Open AccessDeciphering the genetic structure of the Quebec founder population using genealogies
- Laurence Gagnon
- , Claudia Moreau
- & Simon L. Girard
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Article
| Open AccessThe genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort
- Paolo Zanoni
- , Katharina Steindl
- & Nadia Khan
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Article
| Open AccessClinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
- Ashraf Yahia
- , Ahlam A. A. Hamed
- & Giovanni Stevanin
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Brief Communication
| Open AccessClinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia
- Yesim Kesim
- , Fabiola Ceroni
- & Nicola K Ragge
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Review Article
| Open AccessDiagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield
- Jessica M. Bowen
- , Monica Hernandez
- & Glenda J. Sobey
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Article |
Molecular diagnosis of 405 individuals with autism spectrum disorder
- Noriko Miyake
- , Yoshinori Tsurusaki
- & Naomichi Matsumoto
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Article |
Limitations, concerns and potential: attitudes of healthcare professionals toward preimplantation genetic testing using polygenic risk scores
- Maria Siermann
- , Ophelia Valcke
- & Pascal Borry
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Article |
A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity
- Kevin M. Flanigan
- , Megan A. Waldrop
- & Veronica J. Vieland
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