Featured
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| Open AccessSTAC3 disorder: a common cause of congenital hypotonia in Southern African patients
- Fahmida Essop
- , Bronwyn Dillon
- & Amanda Krause
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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
- Maria Lisa Dentici
- , Marcello Niceta
- & Marco Tartaglia
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Article
| Open AccessThe phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients
- Laura M. Watts
- , Marta Bertoli
- & Andrew O. M. Wilkie
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Brief Communication
| Open AccessOutcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort
- Madeline Pearson
- , Ruth McGowan
- & Jonathan Berg
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Article
| Open AccessDe novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
- Samin A. Sajan
- , Ralph Gradisch
- & Martin Krenn
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A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms
- Cristina Calderan
- , Ugo Sorrentino
- & Maria Andrea Desbats
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Article
| Open AccessA second hotspot for pathogenic exon-skipping variants in CDC45
- Kelly Schoch
- , Mischa S. G. Ruegg
- & Louise S. Bicknell
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Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
- Romain Nicolle
- , Lucile Boutaud
- & Tania Attié-Bitach
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Brief Communication
| Open AccessDiagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
- Jihoon G. Yoon
- , Seungbok Lee
- & Jong-Hee Chae
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Identification of a DLG3 stop mutation in the MRX20 family
- Jolien Huyghebaert
- , Ligia Mateiu
- & R. Frank Kooy
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DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
- Monica Traverso
- , Serena Baratto
- & Marcello Scala
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Article
| Open AccessDecoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
- M. Cecilia Poli
- , Boris Rebolledo-Jaramillo
- & Gabriela M. Repetto
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Article
| Open AccessDe novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
- Shruti Pande
- , Purvi Majethia
- & Anju Shukla
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Comment |
Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
Johansson et al. recently described the genetic diagnosis of a large family with Gusatvson syndrome. The pathogenic variant in this family is an in-frame deletion in RBMX, also known as HNRNPG. This work expands the definition of the HNRNP-Related Neurodevelopmental Disorders and provides insights into analyzing the related conditions.
- Madelyn A. Gillentine
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Brief Communication
| Open AccessBiallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism
- Patrick Yap
- , Lisa G. Riley
- & Polona Le Quesne Stabej
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Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum
- Milena Atique Tacla
- , Matheus de Mello Copelli
- & Vera Lúcia Gil-da-Silva-Lopes
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Article
| Open AccessBi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
- Eyyup Uctepe
- , Barbara Vona
- & Ahmet Yesilyurt
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Article
| Open AccessBörjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
- Vani Jain
- , Seow Hoong Foo
- & Andrew E. Fry
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Article
| Open AccessA population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
- Elin Ola Klemenzdottir
- , Gudny Anna Arnadottir
- & Patrick Sulem
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Comment
| Open AccessPublic attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives
- Anna Rosén
- , Mateja Krajc
- & Svetlana Bajalica-Lagercrantz
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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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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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| 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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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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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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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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KiT-GENIE, the French genetic biobank of kidney transplantation
- Rokhaya Ba
- , Axelle Durand
- & Sophie Limou
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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 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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Brief Communication |
Somatic and germinal mosaicism in a Han Chinese family with laminopathies
- Guangyu Wang
- , Ying Hou
- & Pengfei Lin
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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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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
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Brief Communication |
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts
- Daphna Mezad-Koursh
- , Eldar Rosenfeld
- & Shay Ben-Shachar
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Brief Communication
| Open AccessAnalysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia
- Fabiola Ceroni
- , Daniel Osborne
- & Nicola K. Ragge
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Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event
- Ananthapadmanabha Kotambail
- , Pavalan Selvam
- & Gautham Arunachal
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Article
| Open AccessWhole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene
- Bernhard O. Boehm
- , Wolfgang Kratzer
- & Vikas Bansal
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Correspondence |
“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome
- Lynne Rumping
- , Raoul C. M. Hennekam
- & Mieke M. van Haelst