• <em>SEC31A</em> mutation affects ER homeostasis, causing a neurological syndrome
• "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype
• 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy
• A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb
• A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
• A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation
• A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly
• A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl
• A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness
• A patient with 9q subtelomeric deletion syndrome with additional findings
• A possible cranio-oro-facial phenotype in Cockayne syndrome
• A review of craniofacial disorders caused by spliceosomal defects
• A Review of the Clinical Features and Management of Systemic Congenital Mastocytosis through the Presentation of An Unusual Prenatal-Onset Case
• Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome
• An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
• An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria
• An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech
• ATP6V1B2-related epileptic encephalopathy
• Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
• BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy
• Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism
• Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene
• Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive
• Caribbean Community establishes rubella elimination goal. Resolution on the elimination of rubella
• Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss
• CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
• Choanal stenosis, hypothelia, deafness, recurrent dacryocystitis, neck fistulas, short stature, and microcephaly: report of a case
• Chromosome 11q13 deletion syndrome
• Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene
• Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome
• Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease
• Clinical diagnose and significance of congenital sensorineural hearing loss combined with BPES
• Cockayne Syndrome
• Cockayne syndrome: Clinical features, model systems and pathways
• Combined Oxidative Phosphorylation Deficiency Type-13 with Perinatal Presentation: A Case Report
• Congenital atrichia and hypotrichosis
• Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: a new genetic syndrome?
• Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases
• De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
• De Sanctis-Cacchione syndrome
• De Sanctis-Cacchione Syndrome with Subdural Effusion: A Rare Case from India with Review of Literature
• Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability
• Duodenal stenosis, a new finding on congenital rubella syndrome: case description and literature review
• Early therapeutic trials for retinitis pigmentosa
• EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
• Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases
• ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination
• Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1)
• Feingold syndrome: clinical review and genetic mapping
• Fetal alcohol syndrome: a prospective national surveillance study
• Ganglioside GM3 Synthase Deficiency in Mouse Models and Human Patients
• Genetic factors in isolated and syndromic esophageal atresia
• Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions
• Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
• Homozygous Autosomal Recessive <em>DIAPH1</em> Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case
• IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development
• Inv dup del(4)(:p13--&gt;p16.3::p16.3--&gt;qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome
• Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome
• Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review
• Kleefstra Syndrome with Severe Sensory Neural Deafness and &lt;em&gt;De Novo&lt;/em&gt; Novel Mutation
• Kleefstra Syndrome with Severe Sensory Neural Deafness and <em>De Novo</em> Novel Mutation
• Klippel-Feil syndrome and Dandy-Walker malformation
• Late-onset hearing loss case associated with a heterozygous truncating variant of DIAPH1
• Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations
• MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms
• Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome
• Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q
• Molecular characterization of <em>de novo</em> ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies
• Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes
• Mowat-Wilson syndrome: deafness in the first Egyptian case who was conceived by intracytoplasmic sperm injection
• New ocular finding in Baraitser-Winter syndrome (BWS)
• Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3
• Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature
• Novel facial characteristics in congenital rubella syndrome: a study of 115 cases in a cardiac hospital of Bangladesh
• Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures
• Novel mutation in SUCLA2 identified on sequencing analysis
• Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome
• Ocular manifestations of the Johanson-Blizzard syndrome
• PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly
• Phenotypic and microscopic description of a new case of Ermine phenotype
• Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India
• Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene
• Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings
• Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review
• Schimke XLID syndrome results from a deletion in BCAP31
• SEC31A mutation affects ER homeostasis, causing a neurological syndrome
• Secondary congenital aphakia
• Sensorineural deafness in two infants: a novel feature in the 22q distal duplication syndrome. Cardinal signs in trisomies 22 subtypes
• Spliceosomopathies and neurocristopathies: Two sides of the same coin?
• The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1
• The eleventh reported case of Mulvihill-Smith syndrome in the literature
• Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review
• Two Turkish siblings with MEGDEL syndrome due to novel SERAC1 gene mutation
• Variants in <em>PHF8</em> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
• Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness
• Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family
• Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays
• X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G&amp;gt;C mutation in the ATRX gene
• X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G&gt;C mutation in the ATRX gene
• Zika Virus Infection in Pregnant Women and Microcephaly