Featured
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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 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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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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Brief Communication |
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
- Giuseppe Reynolds
- , Simona Cardaropoli
- & Alessandro Mussa
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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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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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Comment |
Exploring genotype–phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome
- Krista M. Vincent
- & Gail E. Graham
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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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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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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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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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Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
- Manuela Priolo
- , Erika Zara
- & Marco Tartaglia
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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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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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Molecular diagnosis of 405 individuals with autism spectrum disorder
- Noriko Miyake
- , Yoshinori Tsurusaki
- & Naomichi Matsumoto
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Brief Communication
| Open AccessTwo sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism
- Yasuhiko Asahina
- , Umi Tahara
- & Akiharu Kubo
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Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
- Chiara Giovenino
- , Slavica Trajkova
- & Alfredo Brusco
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CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories
- Simona Amenta
- , Giuseppe Marangi
- & Marcella Zollino
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Brief Communication
| Open AccessDefining the heterogeneity of unbalanced structural variation underlying breast cancer susceptibility by nanopore genome sequencing
- Katherine Dixon
- , Yaoqing Shen
- & Steven J. M. Jones
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Article
| Open AccessCopy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
- Maartje Pennings
- , Rowdy P. P. Meijer
- & Erik-Jan Kamsteeg
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Article
| Open AccessViews of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening
- Lucinda Freeman
- , Martin B. Delatycki
- & Edwin P. Kirk
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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
- Mio Aerden
- , Anne-Sophie Denommé-Pichon
- & Hilde Van Esch
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Viewpoint
| Open AccessElusive variants in autosomal recessive disease: how can we improve timely diagnosis?
- Ari E. Horton
- , Sebastian Lunke
- & Zornitza Stark
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Comment |
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss
- Yoko Nakano
- & Botond Bánfi
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Comment
| Open AccessAn encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey
- Barbara Vona
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Brief Communication |
Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders
- Qifei Li
- , Rohan Agrawal
- & Pankaj B. Agrawal
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Comment
| Open AccessHigh molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
- Heiko Reutter
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Brief Communication |
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
- Francesca Piceci-Sparascio
- , Lucia Micale
- & Alessandro De Luca
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Brief Communication |
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome
- Paola Fortugno
- , Rosanna Monetta
- & Marco Ritelli
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CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases
- Lottie D. Morison
- , Olivia van Reyk
- & Angela T. Morgan
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Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature
- Miya St John
- , Olivia van Reyk
- & Angela T. Morgan
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Brief Communication |
Somatic and germinal mosaicism in a Han Chinese family with laminopathies
- Guangyu Wang
- , Ying Hou
- & Pengfei Lin
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Review Article
| Open AccessPanel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective
- Yasmin Al Sayed
- & Sasha R. Howard
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Brief Communication
| Open AccessPathogenic REST variant causing Jones syndrome and a review of the literature
- Elisa Rahikkala
- , Johanna Julku
- & Minna Kraatari-Tiri
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Policy
| Open AccessGenetic testing for mitochondrial disease: the United Kingdom best practice guidelines
- Eleni Mavraki
- , Robyn Labrum
- & Carl Fratter
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Article
| Open AccessNon-invasive prenatal testing in Germany: a unique ethical and policy landscape
- Hilary Bowman-Smart
- , Claudia Wiesemann
- & Ruth Horn
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An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
- Marta Codina-Solà
- , Laura Trujillano
- & Eduardo Fidel Tizzano
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Review Article |
Dutch pharmacogenetics working group (DPWG) guideline for the gene–drug interaction between UGT1A1 and irinotecan
- Emma C. Hulshof
- , Maarten J. Deenen
- & Jesse J. Swen
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Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
- Emanuela Leonardi
- , Maria Cristina Aspromonte
- & Alessandra Murgia