American Journal of Medical Genetics Part A: Vol 167, No 12

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American Journal of Medical Genetics Part A: Volume 167, Issue 12

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American Journal of Medical Genetics Part A: Volume 167A, Number 12, December 2015

Table of Contents

Table of Contents, Volume 167A, Number 12, December 2015

the AJMG SEQUENCE: Decoding News and Trends for the Medical Genetics Community by Deborah Levenson

Sweeping changes proposed for “Common rule”Update would require mandatory informed consent for use of human biospecimens in research

Medical foods prescribed to treat methylmalonic acidemia linked with adverse outcomes for some patients: Studies explore impact of unbalanced amino acid formulation on growth, brain development

In this issue

Research Article

Nosology and classification of genetic skeletal disorders: 2015 revision

Rapid Communications

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

Invited Comment

The effect of genetic test-based risk information on behavioral outcomes: A critical examination of failed trials and a call to action

Research Articles

7q11.23 Duplication syndrome: Physical characteristics and natural history

Autism spectrum disorder in Prader–Willi syndrome: A systematic review

The behavioral characteristics of Sotos syndrome

PDZD7 and hearing loss: More than just a modifier

De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome

Exome analysis of a family with Wolff–Parkinson–White syndrome identifies a novel disease locus

Clinical and genetic characteristics of craniosynostosis in Hungary

Thyroid nodules on chest CT of patients with tuberous sclerosis complex

Chronic pain in Noonan Syndrome: A previously unreported but common symptom

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies

11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures

Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder

Recurrent duplications of 17q12 associated with variable phenotypes

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations

Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 european countries, 2000–2011

Down syndrome birth weight in England and Wales: Implications for clinical practice

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A

Work participation in adults with Marfan syndrome: Demographic characteristics, MFS related health symptoms, chronic pain, and fatigue

Clinical Reports

Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies

Familial recurrences of FOXG1-related disorder: Evidence for mosaicism

Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S)

Atypical Williams syndrome in an infant with complete atrioventricular canal defect

Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2–q13.31 microdeletion

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype–phenotype correlation

Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency

Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199–214 cluster in the skeletal features of the condition

Bohring–Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome

Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus

Duplication of 10q22.3–q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin–Siris phenotype, and schwannomatosis

A unique TBX5 microdeletion with microinsertion detected in patient with Holt–Oram syndrome

Correction(s) for this article

Erratum

Rare genomic rearrangement in a boy with Williams–Beuren syndrome associated to XYY syndrome and intriguing behavior

Association between Kniest dysplasia and chondrosarcoma in a child

Severe CNS involvement in WWOX mutations: Description of five new cases

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype–phenotype correlation

Expanding the phenotype of feingold syndrome-2

Research Letters

Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9

Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell–Silver syndrome

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Sweeping changes proposed for “Common rule”
Update would require mandatory informed consent for use of human biospecimens in research