Autism variants can influence behavior, communication traits in general population
Online platform to embrace wide community of people affected by genetic diseases
36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting
In memory of Murray Feingold (1930–2015)
The society for craniofacial genetics and developmental biology 38th annual meeting
The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes
Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples
Three cases of Troyer syndrome in two families of Filipino descent
Analysis of TFGBR1*6A variant in individuals evaluated for Marfan syndrome
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder
Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype
Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the literature
Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family
Elastins from patients with Williams–Beuren syndrome and healthy individuals differ on the molecular level
Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease
Respiratory system involvement in Costello syndrome
COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse
Novel splicing mutation in the ASXL3 gene causing Bainbridge–Ropers syndrome
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum
Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature
A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy
14q13 distal microdeletion encompassing NKX2-1 and PAX9 : Patient report and refinement of the associated phenotype
Is 1p36 deletion associated with anterior body wall defects?
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia
Rapid clinical deterioration in an individual with Down syndrome
Macrodactyly in tuberous sclerosis complex: Case report and review of the literature
A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome
A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders
An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 ( GLIS3 )
Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation
Death from supine asphyxia in late onset pompe disease: Two patients
A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome
Silver–Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis
Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings
Trisomy 13 and gallbladder agenesis
Ehlers–Danlos syndrome(s) mimicking child abuse: Is there an impact on clinical practice?