Next-generation sequencing may reduce cost and wait time for some genetic diagnoses: Experts argue that clinical evaluation remains crucial
States stress newborn screening for home births: Initiatives emphasize education about the importance of bloodspot tests, hearing screens
In this issue
The AKT genes and their roles in various disorders
The society of craniofacial genetics and developmental biology 35th annual meeting
Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis
Cognitive, sensory, and psychosocial characteristics in patients with Bardet–Biedl syndrome
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
Ehlers–Danlos syndrome, hypermobility type: A characterization of the patients' lived experience
Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type
Multidisciplinary treatment of disability in ehlers–danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders
3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients
The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability
Management of hypogonadism in adolescent girls and adult women with Prader–Willi syndrome
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations
Neuromotor synapses in Escobar syndrome
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
Dysregulation of FOXG1 pathway in a 14q12 microdeletion case
Non-immune hydrops fetalis: A prospective study of 53 cases
High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease
Embryonic left–right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians
Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene
A patient with a unique frameshift mutation in GPC3 , causing Simpson–Golabi–Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle
More than meets the eye: The evolving phenotype of Weill–Marchesani syndrome—diagnostic confusion with geleophysic dysplasia
Similarity of geleophysic dysplasia and weill–marchesani syndrome
JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot
Endocrine phenotype of 6q16.1–q21 deletion involving SIM1 and Prader–Willi syndrome-like features
Severe intellectual disability, West syndrome, Dandy–Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3
Congenital heart defects in oculodentodigital dysplasia: Report of two cases
Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome
FOXP1 mutations cause intellectual disability and a recognizable phenotype
Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22
Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome
Familial Ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation
A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability
Polysomnographic findings in infantile Pompe disease
Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review
Pediatric glaucoma terminology
“Whorl patterns on the lower lip are associated with nonsyndromic cleft lip with or without cleft palate” American Journal of Medical Genetics Part A, Volume 149A, Issue 12, pages 2673–2679, December 2009