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Next-generation sequence testing expands research into causes of hearing loss
Newborn bloodspot retention reinstated in minnesota
In this issue
Cono-spondylar dysplasia: Clinical, radiographic, and molecular findings of a previously unreported disorder
Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing
Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?
The historical Coffin–Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients
Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader–Willi syndrome: A comparison between maternal uniparental disomy and deletion cases
A modified panel of sentinel congenital anomalies for potential use in mutation epidemiology based on birth defects registry data
Stuve–Wiedemann syndrome: Is it underrecognized?
Association between macroorchidism and intelligence in FMR1 premutation carriers
Maternal exposure to methotrexate and birth defects: A population-based study
Skin findings in Williams syndrome
QOL in caregivers of Japanese patients with Prader–Willi syndrome with reference to age and genotype
A double-blind randomized controlled trial of oxytocin nasal spray in Prader Willi syndrome
Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28
Congenital abnormalities and hepatoblastoma: A report from the Children's Oncology Group (COG) and the Utah Population Database (UPDB)
Are 22q11.2 distal deletions associated with math difficulties?
The Habsburg Jaw—Re-examined
Radiographic evaluation of stillbirth: What does it contribute?
Familial occurrence of Mayer–Rokitansky–Küster–Hauser syndrome: A case report and review of the literature
Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB , a negative regulator of RANKL-induced osteoclastogenesis
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability
Growth charts for individuals with Rubinstein–Taybi syndrome
Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country
Whole ARX gene duplication is compatible with normal intellectual development
Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome
De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3
Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis
Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity
Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation
Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion
A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: A case report
A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)
Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani–Lenz syndrome
Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation
Eight year follow-up of an epidemic of sirenomelia in Cali, Colombia
Should sex chromosomes be excluded from use in QF-PCR in prenatal samples with a molecular referral?
Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1
Far from the tree: Parents, children, and the search for identity by Andrew Solomon