Whole-exome sequencing strategy proposed as first-line test
Website aims to accelerate gene discovery, diagnosis, treatment
In this issue
Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients
Congenital limb deficiency classification and nomenclature: The need for a consensus
Second Pallister-Opitz Genetics Symposium, Helena, Montana, July 2015
Lack of mutation–histopathology correlation in a patient with Proteus syndrome
The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy
Clinical audit of genetic testing and referral patterns for fragile X and associated conditions
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome
Histologically benign, clinically aggressive: Progressive non-optic pathway pilocytic astrocytomas in adults with NF1
Acceptance and commitment therapy in youth with neurofibromatosis type 1 (NF1) and chronic pain and their parents: A pilot study of feasibility and preliminary efficacy
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation
Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss
Delineation of a recognizable phenotype for the recurrent LCR22-C to D/E atypical 22q11.2 deletion
Oblique facial clefts in Johanson–Blizzard syndrome
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy
KCNQ1 mutations associated with Jervell and Lange–Nielsen syndrome and autosomal recessive Romano–Ward syndrome in India—expanding the spectrum of long QT syndrome type 1
Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS
Nutritional aspects of Noonan syndrome and Noonan-related disorders
Apert and Crouzon syndromes—Cognitive development, brain abnormalities, and molecular aspects
Do patients with tuberous sclerosis complex have an increased risk for malignancies?
Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial
Further defining the phenotypic spectrum of B4GALT7 mutations
James L. German, a pioneer in early human genetic research turned 90
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia
Hypertrophic neuropathy in Noonan syndrome with multiple lentigines
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1
Autosomal recessive MFN2 -related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review
PCDH19 -related epileptic encephalopathy in a male mosaic for a truncating variant
Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare case
Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function
Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman–Sheldon Syndrome caused by a pathogenic MYH3 mutation
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review
Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism
Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts
TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes
A novel EDARADD 5′-splice site mutation resulting in activation of two alternate cryptic 5′-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia
Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation
Additional data on the clinical phenotype of Helsmoortel—Van der Aa syndrome associated with a novel truncating mutation in ADNP gene
Man of Science, Man of God—Gregor Mendel—Discovering the Gene—For his 150th anniversary. Great Britain, Timaeus Press, 227 pp. Paperback—Proofs received for review. Price?