Why is "Coffin–Siris syndrome" trending?

Search Interest Perspective

• Coffin-Siris Syndrome: Julia’s Story - Children's Hospital of Philadelphia
• Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant - Nature
• Coffin–Siris syndrome: Clinical description of two cases - Wiley Online Library
• Language Impairments in Individuals With Coffin-Siris Syndrome - Frontiers
• ARID1B: Collaboration tackles neurodevelopmental disorder - Österreichische Akademie der Wissenschaften
• Angelman Differential Diagnosis Should Include Coffin-Siris Syndrome, Study Says - Angelman Syndrome News
• Adeline A Coffin Siris Syndrome and Congenital Diaphragmatic Hernia​ - RWJBarnabas Health
• Greater Understanding of How Cells Access Their DNA May Aid Treatments - Dana-Farber Cancer Institute
• Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients - Nature
• A 69‐year‐old woman with Coffin–Siris syndrome - Määttänen - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
• Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders - Frontiers
• Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome - Nature
• Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases - Wiley Online Library
• Raised intra-ocular pressure in the setting of Coffin-Siris syndrome - Eye - Nature
• Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features? - obgyn.onlinelibrary.wiley.com
• Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome - Nature
• Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects - Nature
• Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene - Nature
• De novo SOX11 mutations cause Coffin–Siris syndrome - Nature
• BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes - Nature
• Evidence for an association between Coffin‐Siris syndrome and congenital diaphragmatic hernia - Wiley Online Library
• Cochlear nerve deficiency in SOX11‐related Coffin‐Siris syndrome - Wiley Online Library
• Coffin–Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing - Wiley Online Library
• Protein destabilization underlies pathogenic missense mutations in ARID1B - Nature
• ‘She is the only person I know of with this mutation.’: Mom shares daughter’s journey with rare Coffin-Siris Syndrome, ‘We are the lucky few’ - Love What Matters
• BICRA gene variants linked to a neurodevelopmental disorder - Baylor College of Medicine Blog Network -
• Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders - Nature
• Premature thelarche in Coffin‐Siris syndrome - Brunetti‐Pierri - 2003 - American Journal of Medical Genetics Part A - Wiley Online Library
• Grayson Francis: Wadena’s one in million - Wadena Pioneer Journal
• East Texas Moms share their stories for Rare Disease Day - cbs19.tv
• Local woman with rare genetic disorder raising awareness - KING5.com
• ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome - Nature
• Pituitary hypoplasia and growth hormone deficiency in Coffin‐Siris syndrome - Wiley Online Library
• Postmortem findings in the Coffin-Lowry Syndrome - Nature
• Quebec girl, 3, suffers ultra-rare Coffin-Siris syndrome - Toronto Sun
• After daughter's passing, Lynnwood family raising awareness of wrongful death laws - KING5.com
• Disabled baby denied heart transplant - CNN
• Ennis Parents Of Child With Coffin-Siris Syndrome Claim No Guidance Available - Clare FM
• Genomics for Kids in ASEAN programme to set up registry to further tackle rare diseases in region - The Straits Times
• See who are the winners of the Argus Community Stars Awards - The Argus
• '˜Our Oliver was a Christmas miracle baby, now he's 18' - Lancashire Evening Post
• Auntie aiming to raise £50k to give her Cowbit niece with a rare syndrome the life she deserves - spaldingvoice.co.uk
• Motherwell mum's bid to provide life-changing dream garden for brave six-year-old daughter - Daily Record