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Article
| Open AccessCombined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
- Andrew Fleming
- , Miranda Galey
- & Deborah J. Morris-Rosendahl
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Article |
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
- Marivi V. Cascajo-Almenara
- , Natalia. Juliá-Palacios
- & Rafael Artuch
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Article |
Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies
- Parisa Vaseghi
- , Laleh Habibi
- & Ali Rashidi-Nezhad
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Article |
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
- Monica Traverso
- , Serena Baratto
- & Marcello Scala
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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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Review Article
| Open AccessA comprehensive SARS-CoV-2 and COVID-19 review, Part 2: host extracellular to systemic effects of SARS-CoV-2 infection
- S. Anand Narayanan
- , David A. Jamison Jr
- & Afshin Beheshti
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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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Article
| Open AccessBi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
- Eyyup Uctepe
- , Barbara Vona
- & Ahmet Yesilyurt
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Comment |
Emerging cancer risks in BRCA2 pathogenic germline variant carriers
- Patrick R. Benusiglio
- , Antoine Dardenne
- & Jacques Cadranel
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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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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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Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene
- Giovanni Corso
- , Monica Marabelli
- & Bernardo Bonanni
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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 |
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 |
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
- Manuela Priolo
- , Erika Zara
- & Marco Tartaglia
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Article |
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories
- Simona Amenta
- , Giuseppe Marangi
- & Marcella Zollino
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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 |
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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Article |
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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Article
| Open AccessFarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands
- Ólavur Mortensen
- , Elisabet Thomsen
- & Noomi O. Gregersen
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A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype–phenotype correlations
- Weiqian Dai
- , Yu Sun
- & Na Xu
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Article
| Open AccessGenome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
- Julia Fabian
- , Gabriel C. Dworschak
- & Alina C. Hilger
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ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies
- Joseph T. Glessner
- , Jin Li
- & Hakon Hakonarson
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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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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
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Article |
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
- Viola Alesi
- , Francesca Romana Lepri
- & Maria Cristina Digilio
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Article
| Open AccessA unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
- Alessandra Sironi
- , Ilaria Bestetti
- & Palma Finelli
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Brief Communication
| Open AccessA novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome
- Suzanna Lindsey-Temple
- , Matt Edwards
- & Georg Rosenberger
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Brief Communication
| Open AccessCompound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation
- Qi Tian
- , Li Shu
- & Hua Wang
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Correspondence |
Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
- Laila El Khattabi
- , Fabien Guimiot
- & Andrée Delahaye-Duriez
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Brief Communication |
“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant
- Francesco Nicita
- , Fabrizia Stregapede
- & Lorena Travaglini
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Review Article
| Open AccessA comprehensive SARS-CoV-2 and COVID-19 review, Part 1: Intracellular overdrive for SARS-CoV-2 infection
- David A. Jamison Jr.
- , S. Anand Narayanan
- & Afshin Beheshti
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Brief Communication |
Germline variant in Ctcf links mental retardation to Wilms tumor predisposition
- Pablo Gargallo
- , Silvestre Oltra
- & Jaime Font de Mora
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Viewpoint |
Leave no one behind: inclusion of alpha-1 antitrypsin deficiency patients in COVID-19 vaccine trials
- Chengliang Yang
- , Hedi Zhao
- & Scott J. Tebbutt
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Article
| Open AccessA novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
- Elisa Rahikkala
- , Lea Urpa
- & Outi Kuismin
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Article
| Open AccessNeonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
- Michaela Yuen
- , Lisa Worgan
- & Sandra T. Cooper
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Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants
- Daniel Moualed
- , Jonathan Wong
- & Simon Freeman
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Correspondence |
Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor
- Lorenzo Sinibaldi
- , Alessia Micalizzi
- & Maria Cristina Digilio
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Brief Communication |
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
- Timothy E. Green
- , Mareike Schimmel
- & Samuel F. Berkovic
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Article
| Open AccessSingleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations
- Mateja Smogavec
- , Maria Gerykova Bujalkova
- & Franco Laccone
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Article
| Open AccessFamilial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2
- James Whitworth
- , Ruth T. Casey
- & Eamonn R. Maher
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Article
| Open AccessComprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer
- Rabea Wagener
- , Julia Taeubner
- & Triantafyllia Brozou
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Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes
- Erik Fransen
- , Hanne Valgaeren
- & Guy Van Camp
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Brief Communication |
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment
- Benjamin M. Nash
- , Christopher J. G. Watson
- & Robyn V. Jamieson
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Article |
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
- Amali C. Mallawaarachchi
- , Ben Lundie
- & Timothy J. Furlong