Guidelines support the return of incidental genomic findings
Location of MECP2 mutation could affect Rett syndrome progression and severity
In this issue
A newly recognized autosomal recessive syndrome affecting neurologic function and vision
Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?
Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature
Elements of morphology: Standard terminology for the external genitalia
Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia
Utilizing high-fidelity crucial conversation simulation in genetic counseling training
Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil
Partial tetrasomy 14 associated with multiple malformations
Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene
Spondyloepimetaphyseal dysplasia Pakistani type: Expansion of the phenotype
Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature
Sleep disturbance as part of the neurofibromatosis type 1 phenotype in adults
Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect
Monoamniotic monochorionic twins discordant for noncompaction cardiomyopathy
Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations
Xq25 duplications encompassing GRIA 3 and STAG 2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance
ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome
Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems
Expanding the phenotype of cardiovascular malformations in Adams–Oliver syndrome
Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: Further evidence for an X-linked inheritance
A de novo GLI 3 mutation in a patient with acrocallosal syndrome
A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1
Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region
12q24.33 deletion: Report of a patient with intellectual disability and review of the literature
X-linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature
Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2
Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome
Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia
Constitutional telomeric association (Y;7) in a patient with a female phenotype
Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder
Ring chromosome 9 in a girl with developmental delay and dysmorphic features: Case report and review of the literature
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 ( LIS1 ) in a girl with syndromic lissencephaly
Clinical and genetic study of a family with a paternally inherited 15q11–q13 duplication
109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf–Hirschhorn syndrome
Nasopalpebral Lipoma-Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case
Severe Cenani–Lenz syndrome caused by loss of LRP4 function
De novo 19p13.2 microdeletion encompassing the insulin receptor and resistin genes in a patient with obesity and learning disability
A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability
Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene
Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion
Discordant chromosome placental mosaicism in a dichorionic twin pregnancy
A familial deletion of 16q21 characterized by an SNP array and associated with a normal phenotype
Additional evidence to support the role of the 20q13.33 region in susceptibility to autism
De novo intragenic deletion of the autism susceptibility candidate 2 ( AUTS2 ) gene in a patient with developmental delay: A case report and literature review
Case of genochondromatosis type I in an 8-year-old boy
Array CGH on unstimulated blood does not detect all cases of Pallister–Killian syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice
Response to Cobben et al. “Array CGH on unstimulated blood does not detect all cases of Pallister-Killian Syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice”