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Global Alliance to Create Standards For Sharing Genomic Data
In this issue
ATYPICAL FEATURES NOTED IN AURICULOCONDYLAR SYNDROME FROM RECESSIVE PLCB4 MUTATIONS
SLEEP APNEA MAY CONTRIBUTE TO DEPRESSION IN YOUNG PEOPLE WITH DOWN SYNDROME
Narrative medicine: A call to pens
Three phone calls: A carrier's journey into motherhood
Hospital Deliveries†
Microdeletion 5q14.3 and anomalies of brain development
PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations
The phenotypic spectrum of duplication 5q35.2–q35.3 encompassing NSD1 : Is it really a reversed sotos syndrome?
Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader–Willi syndrome: An observational study
Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders
Severe hypospadias and its association with maternal-placental factors
Adolescents and young adults with down syndrome presenting to a medical clinic with depression: Co-morbid obstructive sleep apnea
Angelman syndrome in Denmark. Birth incidence, genetic findings, and age at diagnosis
Editor's Note
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1
Long-term follow-up of four patients with langer–giedion syndrome: Clinical course and complications
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China
MLL2 and KDM6A mutations in patients with Kabuki syndrome
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus
Learning and memory in children with Noonan syndrome
Verbal memory functioning in adolescents and young adults with costello syndrome: Evidence for relative preservation in recognition memory
Endocrine abnormalities in townes–brocks syndrome
Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome
Editor's Note
A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden–walker syndrome
A case of Toriello–Carey syndrome with severe congenital tracheal stenosis
Duplication of the Xq27.3–q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome
Pure duplication of 19p13.3
Missense mutations in FBN1 exons 41 and 42 cause Weill–Marchesani syndrome with thoracic aortic disease and Marfan syndrome
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to nager syndrome
Snyder–Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype
Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria
Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierre robin sequence
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations
Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism
Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum
Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family
Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration
Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome
Novel no-stop FLNA mutation causes multi-organ involvement in males
Non-lethal non-mosaic male with conradi–hunermann syndrome caused by a novel EBP c.356T>G mutation
A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism
Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies
Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of the natural history
Erratum: In the article by Gene S. Fisch, entitled “Nosology and Epidemiology in Autism: Classification Counts,” in. American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 160C:91–103 10.1002/ajmg.c.31325 (2012)