New legal model suggested for DNA samples given to biobanks
Genetic cause of rare disease may be involved in more common birth defects
In this issue
The relationship between the genetic counseling profession and the disability community: A commentary
Are genetic counselors just misunderstood? Thoughts on “The Relationship Between the Genetic Counseling Profession and the Disability Community: A Commentary”
Reaching across the disability divide: The case for collaboration with the disability community to construct a robust informed consent process around prenatal screening and diagnosis
Embracing the unique role of genetic counselors: Response to the commentary by Madeo et al.
Discovery of genetic susceptibility factors for human birth defects: An opportunity for a national agenda
Megacystis, megacolon, and malrotation: A new syndromic association?
The FRAXopathies: Definition, overview, and update
The ancient Egyptian dwarfs of the pyramids: The high official and the female worker
Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2)
Wolf–Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1 , encoding Δ1-pyrroline-5-carboxylate synthase (P5CS)
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene
How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel
The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature
A pilot study to determine whether health care professionals perceive stigma in heterozygote carrier identification and disclosure decisions
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum
Revisiting recombinant 8 syndrome
Constructing “best interests”: Genetic testing of children in families with hypertrophic cardiomyopathy
Down syndrome and dementia: A randomized, controlled trial of antioxidant supplementation
Delineation of dermatan 4- O -sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients
X-linked mental retardation with alacrima and achalasia—Triple A syndrome or a new syndrome?
Contiguous ˜16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality
Achondroplasia with synostosis of multiple sutures
Duplication of the STS region in males is a benign copy-number variant
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family
Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: Olfactory bulb aplasia and anosmia
Fraternal twins with Aarskog–Scott syndrome due to maternal germline mosaicism
Masticatory muscle defects in hemifacial microsomia: A new embryological concept
Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion
Monozygotic twins with variable expression of Van der Woude Syndrome
Mutational analysis of 12 patients with the phenotype of Ehlers–Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13
A pigmentary skin defect is a new finding in Marshall–Smith syndrome
Trisomy 13 (Patau syndrome) and craniosynostosis
A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame
Abnormal circadian rhythm of melatonin in Smith–Magenis syndrome patients with RAI1 point mutations
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis
A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region
Book review
Rebuttal to the invited comment of Opitz and Carey
Bias in patient series with VACTERL association
Patients with VACTERL association deserve careful scrutiny: Response to Jenetzky et al.
Erratum to: Somatic Mosaicism in Menkes Disease Suggests Choroid Plexus-Mediated Copper Transport to the Developing Brain