New technologies pave way for fetal personalized medicine
Long-term follow-up of newborn screening often falls short
In this issue
Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development
Identification of the mechanism underlying a human chimera by SNP array analysis
Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2
Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II
Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region
Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization
Infants' MTHFR polymorphisms and nonsyndromic orofacial clefts susceptibility: A meta-analysis based on 17 case–control studies
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome hypermobility type) in 82 Italian patients
IMPAD1 mutations in two Catel-Manzke like patients
Genotype–phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome
Thymidylate synthase polymorphisms and risk of conotruncal heart defects
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy
Assessment of bone mineral status in children with Marfan syndrome
The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research
Pseudoaminopterin syndrome
Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype
Simpson–Golabi–Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia
Chronic tibial nonunion in a Rothmund–Thomson syndrome patient
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash
Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: Report of a novel ADAR1 mutation
Chromosome 9p deletion syndrome and sex reversal: Novel findings and redefinition of the critically deleted regions
De novo microdeletion of 5q14.3 excluding MEF2C in a patient with infantile spasms, microcephaly, and agenesis of the corpus callosum
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature
Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family
A novel sclerosing skeletal dysplasia with mixed sclerosing bone dysplasia, characteristic syndromic features, and clinical and radiographic evidence of male–male transmission
Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS)
Partial duplication of 13q31.3–q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus
Severe lateral tibial bowing with short stature in two siblings—A provisionally novel syndrome
17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum
BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)
Report of two patients and further characterization of interstitial 9p13 deletion—A rare but recurrent microdeletion syndrome?
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy
Phenotype in novel Xp duplication
Expression analysis of a 17p terminal deletion, including YWHAE , but not PAFAH1B1 , associated with normal brain structure on MRI in a young girl
Atypical amyoplasia congenita in an infant with Leigh syndrome: A mitochondrial cause of severe contractures?
Trisomy 18: Frequency, types, and prognosis of congenital heart defects in a Brazilian cohort
Pleural malignancy in a 22-year-old female with a chromosome 22q13 deletion
A case of de Barsy syndrome with a severe eye phenotype
2010 and 2011 American Journal of Medical Genetics Reviewer Listing