Featured
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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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Article
| Open AccessIdentification of the DNA methylation signature of Mowat-Wilson syndrome
- Stefano Giuseppe Caraffi
- , Liselot van der Laan
- & Livia Garavelli
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Brief Communication |
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy
- Mahmoud Koko
- , Maha A. Elseed
- & Holger Lerche
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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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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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Article
| Open AccessThe value of genomic testing in severe childhood speech disorders
- Yan Meng
- , Stephanie Best
- & Ilias Goranitis
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Article
| Open AccessA new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
- Zain Awamleh
- , Sanaa Choufani
- & Rosanna Weksberg
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Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies
- Parisa Vaseghi
- , Laleh Habibi
- & Ali Rashidi-Nezhad
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Article
| Open AccessNovel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
- Amarens Hoogenboom
- , Farah A. Falix
- & Mieke M. van Haelst
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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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Article
| Open AccessDiagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation
- Lakmal Gonawala
- , Nalaka Wijekoon
- & K. Ranil D. de Silva
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Article
| Open AccessReanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study
- Zoe Fehlberg
- , Zornitza Stark
- & Stephanie Best
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Article
| Open AccessBlood donor biobank as a resource in personalised biomedical genetic research
- Jonna Clancy
- , Jarmo Ritari
- & Jukka Partanen
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Expanding the phenotype of copy number variations involving NR0B1 (DAX1)
- Nathalie Veyt
- , Griet Van Buggenhout
- & Nathalie Brison
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Article
| Open AccessConfirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
- Fatimah Albuainain
- , Yuwei Shi
- & Tahsin Stefan Barakat
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Article
| Open AccessGenome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections
- Sally N. Adebamowo
- , Adebowale Adeyemo
- & Clement A. Adebamowo
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Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus
- Fedor S. Sharko
- , Eugenia S. Boulygina
- & Artem V. Nedoluzhko
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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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Brief Communication |
Associating CYP2A6 structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension
- Alec W. R. Langlois
- , Jennie G. Pouget
- & Rachel F. Tyndale
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Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
- Eleni Panagiotakaki
- , Francesco D. Tiziano
- & Erin L. Heinzen
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Comment |
Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement
- Maeve Bradley
- , Robert H. Field
- & Hugh Kearney
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Article
| Open AccessEthical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua
- Iris S. Delgado
- , Abigail Outterson
- & Catharine Wang
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Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome
- Shuqian Dong
- , Tongdan Zou
- & Houbin Zhang
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The molecular landscape of oculocutaneous albinism in India and its therapeutic implications
- Sudha Kohli
- , Renu Saxena
- & Ishwar Verma
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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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Article
| Open AccessA 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
- Pål Marius Bjørnstad
- , Ragnhild Aaløkken
- & Gregor D. Gilfillan
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Brief Communication
| Open AccessEstimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue
- Bushra Haque
- , David Cheerie
- & Gregory Costain
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Brief Communication |
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy
- Almundher Al-Maawali
- , Fathiya Al-Murshedi
- & Katta M. Girisha
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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 AccessGWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal
- Ninna Karsbæk Senftleber
- , Mette K. Andersen
- & Anders Albrechtsen
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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 AccessMobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
- Robin Wijngaard
- , German Demidov
- & Christian Gilissen
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A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome
- Madiha Amin Malik
- , Muhammad Arif Nadeem Saqib
- & Muhammad Ansar
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“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening
- Ella Adi-Wauran
- , Marc Clausen
- & Yvonne Bombard
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Comment |
Mitochondrial Cytochrome C deficiency can show the first disease signs in the prenatal stage
- Caterina Garone
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Review Article |
Genomic medicine in neonatal care: progress and challenges
- Alissa M. D’Gama
- & Pankaj B. Agrawal
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Article |
Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant
- Ozlem Akgun-Dogan
- , Francisca Díaz-González
- & Karen E. Heath
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Article
| Open AccessKnowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project
- Michelle Peter
- , Jennifer Hammond
- & Celine Lewis
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Article
| Open AccessA linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease
- Kristjan Norland
- , Daniel J. Schaid
- & Iftikhar J. Kullo
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Comment |
Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome
- Candy Kumps
- , Erika D’haenens
- & Olivier M. Vanakker
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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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Review Article
| Open AccessThe molecular genetics of nELAVL in brain development and disease
- Meghan R. Mulligan
- & Louise S. Bicknell
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Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly
- Muhammad Bilal
- , Hammal Khan
- & Suzanne M. Leal
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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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Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
- Emily A. Huth
- , Xiaonan Zhao
- & Daryl A. Scott
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Brief Communication |
Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta
- Kemelly Karolliny Moreira Resende
- , Margot Charlotte Riou
- & Muriel de La Dure-Molla
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