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Validation of copy number variation analysis for next-generation sequencing diagnostics
- Jamie M Ellingford
- , Christopher Campbell
- & Graeme CM Black
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| Open AccessAnalysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders
- Alistair T Pagnamenta
- , Yoshiko Murakami
- & Usha Kini
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Two novel BMP-2 variants identified in patients with thoracic ossification of the ligamentum flavum
- Xiaochen Qu
- , Zhongqiang Chen
- & Yun Jiang
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Short Report |
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome
- Heather Mason-Suares
- , Diana Toledo
- & Matthew S Lebo
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Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations
- Ching-Wan Lam
- , Ka-Sing Wong
- & Chun-Yiu Law
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Short Report |
Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)
- Hao Hu
- , Christoph Hübner
- & Markus Schuelke
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| Open AccessChromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders
- Kate Wolfe
- , André Strydom
- & Nick Bass
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Clinical Utility Gene Card |
Clinical Utility Gene Card for: Familial partial lipodystrophy
- Isabelle Jéru
- , Camille Vatier
- & Olivier Lascols
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Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing
- Helen Byers
- , Yvonne Wallis
- & D Gareth Evans
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| Open AccessA splice variant in the ACSL5 gene relates migraine with fatty acid activation in mitochondria
- Fuencisla Matesanz
- , María Fedetz
- & Antonio Alcina
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Short Report |
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia
- Gaetano Terrone
- , Norine Voisin
- & Alexandre Reymond
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Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia
- Hélène Cavé
- , Aurélie Caye
- & Alain Verloes
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The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
- Mouna Barat-Houari
- , Bruno Dumont
- & Isabelle Touitou
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Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
- Julien Thevenon
- , Céline Souchay
- & Laurence Faivre
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West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1
- Ali Abdullah Alfaiz
- , Verena Müller
- & Alexandre Reymond
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Novel genetic causes for cerebral visual impairment
- Daniëlle GM Bosch
- , F Nienke Boonstra
- & Bert BA de Vries
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Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases
- Christin Loeth Hertz
- , Sofie Lindgren Christiansen
- & Niels Morling
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Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs
- Malgorzata I Srebniak
- , Karin EM Diderich
- & Diane Van Opstal
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Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX
- Ching Moey
- , Scott Topper
- & Cheryl Shoubridge
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The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome
- Sarah Joyce
- , Kristiana Gordon
- & Sahar Mansour
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Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences
- Cristina Medina-Trillo
- , José-Daniel Aroca-Aguilar
- & Julio Escribano
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Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders
- Ching Moey
- , Susan J Hinze
- & Cheryl Shoubridge
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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
- Jianling Ji
- , Hane Lee
- & Fabiola Quintero-Rivera
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Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders
- Robert Brown
- , Hane Lee
- & Bogdan Pasaniuc
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Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome
- Concetta Cafiero
- , Giuseppe Marangi
- & Marcella Zollino
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Truncated prelamin A expression in HGPS-like patients: a transcriptional study
- Florian Barthélémy
- , Claire Navarro
- & Annachiara De Sandre-Giovannoli
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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
- Mirjam Larsen
- , Simone Rost
- & Clemens R Müller
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Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects
- Marja W Wessels
- , Johanna C Herkert
- & Dennis Dooijes
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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications
- Przemyslaw Szafranski
- , Sailaja Golla
- & Paweł Stankiewicz
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News and Commentary |
Do early paternal exposures to lifestyle factors such as smoking increase the risk of chronic diseases in the offspring?
- Adelheid Soubry
- , Geert Verbeke
- & Cathrine Hoyo
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| Open AccessA truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency
- Monika Oláhová
- , Tobias B Haack
- & Robert W Taylor
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Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene
- Abanish Singh
- , Michael A Babyak
- & Elizabeth R Hauser
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Clinical Utility Gene Card |
Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein–Barr virus infection, and neoplasia (XMEN)
- Feng-Yen Li
- , Benjamin Chaigne-Delalande
- & Michael J Lenardo
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Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome
- Gea Beunders
- , Sonja A de Munnik
- & Erik A Sistermans
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Short Report |
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine
- Gina L O'Grady
- , Heather A Best
- & Nigel F Clarke
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Short Report |
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome
- Binnaz Yasar
- , Helen J Byers
- & D Gareth Evans
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Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity
- Sophie Thomas
- , Vincent Cantagrel
- & Tania Attié-Bitach
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A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine
- Se-Kyung Oh
- , Jeong-In Baek
- & Kyu-Yup Lee
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| Open AccessEvaluation of the Dutch BRCA1/2 clinical genetic center referral criteria in an unselected early breast cancer population
- Alexandra J van den Broek
- , Karen de Ruiter
- & Marjanka K Schmidt
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Short Report |
VPS35 and DNAJC13 disease-causing variants in essential tremor
- Alex Rajput
- , Jay P Ross
- & Carles Vilariño-Güell
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Tectonic gene mutations in patients with Joubert syndrome
- Peter Huppke
- , Eike Wegener
- & Carsten Bergmann
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Short Report |
Using whole-exome sequencing to identify variants inherited from mosaic parents
- Jonathan J Rios
- & Mauricio R Delgado
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Short Report
| Open AccessAn exome sequencing strategy to diagnose lethal autosomal recessive disorders
- Sian Ellard
- , Emma Kivuva
- & Hana Lango Allen
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Short Report |
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?
- Dennis Döcker
- , Max Schubach
- & Saskia Biskup
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Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
- Lisenka ELM Vissers
- , Monica Bonetti
- & Jeroen den Hertog
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Short Report
| Open AccessCommon colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP
- Timothy H T Cheng
- , Maggie Gorman
- & Ian Tomlinson
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Short Report |
Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia
- Dong Li
- , David R Weber
- & Michael A Levine