Informed consent required for federally funded studies on bloodspots
Research sheds light on gene expression differences in 22q11.2 deletion syndrome
In this issue
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome
Dandy–Walker malformation, genitourinary abnormalities, and intellectual disability in two families
Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3–p25.3
An inner god: BEN E. KATZ (1921–2015) as geneticist
National down syndrome patient database: Insights from the development of a multi-center registry study
Aortic dimensions in Turner syndrome
Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6
Targeted leukodystrophy diagnosis based on charges and yields for testing
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes
Is VACTERL a laterality defect?
Comment: The midline
Registry analysis supports different mechanisms for gastroschisis and omphalocele within shared developmental fields
The VACTERL Association as a disturbance of cell fate determination
Blastogenetic associations: General considerations
Sonic Hedgehog , VACTERL, and Fanconi anemia: Pathogenetic connections and therapeutic implications
Congenital limb deficiencies in Alberta—a review of 33 years (1980–2012) from the Alberta Congenital Anomalies Surveillance System (ACASS)
Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18
Pseudoachondroplasia and painful sequelae
The neurobehavioral and molecular phenotype of Angelman Syndrome
Marfan syndrome patient experiences as ascertained through postings on social media sites
Experiences with obtaining informed consent for genomic sequencing
Canaries in the coal mine: Personal and professional impact of undergoing whole genome sequencing on medical professionals
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes
Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A
Differentiating between copy-number-variation and gain-of-function mutation
Copy number variants including RAS pathway genes—How much RASopathy is in the phenotype?
A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes
Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy
Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot
10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies
Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents
A girl with incomplete Prader–Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array
Familial 7q11.23 duplication with variable phenotype
Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB 3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation
Refinement of the postnatal growth restriction locus of chromosome 5q12-13 deletion syndrome
Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation
Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex
Genochondromatosis type I: A clinicoradiological study of four family members
Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome
Volvulus and bowel obstruction in ATR-X syndrome—clinical report and review of literature
Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2?
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome
6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly
New insights into central nervous system involvement in FOP: Case report and review of the literature
Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay
Menkes disease with discordant phenotype in female monozygotic twins
SOX2 anophthalmia syndrome and dental anomalies
Progressive hip joint subluxation in Saul-Wilson syndrome
Intellectual disability and overgrowth—A new case of 19p13.13 microdeletion syndrome with digital abnormalities
Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation
Trisomy 15 mosaicism: Challenges in prenatal diagnosis
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly
Elucidating discrepant results in a prenatal diagnosis of 48,XXY,+18 (Edwards and Klinefelter syndromes)
Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype
Silver-Rusell syndrome caused by epigenetic alteration in a child conceived by intrauterine insemination from donor sperm
Significance and reporting of incidental findings concerning family medical history
Summary of the 2nd International Symposium on Arthrogryposis, St. Petersburg, Russia, September 17–19, 2014
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta