Short Report

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

• Gina L O'Grady
• Alan Ma
• Nigel F Clarke

Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction

• Ivana Matera
• Marta Rusmini
• Isabella Ceccherini

Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

• Wafaa Sewairi
• Abdulrahman Assiri
• Fowzan S Alkuraya

The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north–south gradient among Europeans

• Jessica Becker
• Stephan L Haas
• Johannes Schumacher

The (in)famous GWAS P-value threshold revisited and updated for low-frequency variants

• João Fadista
• Alisa K Manning
• Leif Groop

Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability

• Muhammad Ansar
• Abid Jan
• Suzanne M Leal

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

• Katta Mohan Girisha
• Fanny Kortüm
• Kerstin Kutsche

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

• Anne ML Jansen
• Tom van Wezel
• Hans Morreau

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

• Jason R Vanstone
• Amanda M Smith
• Matthew A Lines

Lessons from a pair of siblings with BPAN

• Yuri A Zarate
• Julie R Jones
• Michael C Kruer

De novo variants in sporadic cases of childhood onset schizophrenia

• Amirthagowri Ambalavanan
• Simon L Girard
• Guy A Rouleau

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome

• Sylvie Langlois
• Maja Tarailo-Graovac
• Clara DM van Karnebeek

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

• Julia Lauer Zillhardt
• Karine Poirier
• Jamel Chelly

The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product

• Haribaskar Ramachandran
• Toma A Yakulov
• Gerd Walz

Refined phylogenetic structure of an abundant East Asian Y-chromosomal haplogroup O*-M134

• Chao Ning
• Shi Yan
• Li Jin

Mothers’ psychological adaptation to Duchenne/Becker muscular dystrophy

• Holly L Peay
• Bettina Meiser
• Aad Tibben

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

• Francis H Sansbury
• Birgül Kirel
• Charles J Shaw-Smith

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy

• Minh Nguyen
• Iris Boesten
• Hubert J M Smeets

Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum

• Loubna Jouan
• Bouchra Ouled Amar Bencheikh
• Guy A Rouleau

Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

• Affef Abidi
• Cécile Mignon-Ravix
• Laurent Villard