Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
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S. Scherer | L. Vissers | R. Pfundt | B. D. de Vries | C. Cytrynbaum | R. Weksberg | E. van Binsbergen | N. Brunetti‐Pierri | H. Brunner | S. Walker | F. Zou | R. Person | D. Chitayat | S. Choufani | T. Kleefstra | M. Nowaczyk | F. Santos-Simarro | T. Rinne | C. Ruivenkamp | S. Meyn | M. Larsen | L. Ousager | J. V. van Harssel | D. Lessel | J. Denecke | S. Pajusalu | K. Õunap | C. Stumpel | R. Cohn | A. Slavotinek | C. Phornphutkul | Yili Xie | L. Rowe | J. Radley | Elin Tønne | M. Hempel | E. Morava | M. Siu | E. Klee | K. Platzer | A. van Haeringen | Daniëlle G. M. Bosch | O. Caluseriu | S. Stevens | D. Koolen | M. Kwint | Sarah J. Goodman | F. Millan | K. V. van Gassen | I. Wentzensen | Amy Crunk | G. Cappuccio | E. Bhoj | A. Neumeyer | K. Lindstrom | Eric J Chater-Diehl | J. Strober | A. Dingemans | Zain Awamleh | J. Vermeulen | P. Kannu | Michael P. Kwint | Alyssa L. Ritter | Laura E. Schultz-Rogers | E. Leenders | M. Palomares-Bralo | T. Gardeitchik | D. Rots | C. D. de Geus | W. Wilson | M. Saenz | Ian R Berry | N. Hoang | K. Tveten | M. Pacio-Míguez | B. Pruniski | Shuxi Liu | Hui Yang | Jennifer Campbell | K. Reinson | Ebba Alkhunaizi | H. Brackel | A. C. Deden | Joshua Charkow | Leandra Folk | Berkley Schmidt | R. Cuperus | J. Bunn | Mareike Mertens | Hein J. L. Brackel | A. Deden | D. Rots | S. Goodman
[1] C. Romano,et al. De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome , 2020, Genetics in Medicine.
[2] C. Cytrynbaum,et al. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. , 2020, American journal of human genetics.
[3] Andrei L. Turinsky,et al. EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases , 2020, Human mutation.
[4] S. Scherer,et al. EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome , 2020 .
[5] L. Vissers,et al. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. , 2020, American journal of human genetics.
[6] S. Scherer,et al. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes , 2020, American journal of human genetics.
[7] M. Shaw,et al. Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. , 2020, American journal of human genetics.
[8] Ryan L. Collins,et al. The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.
[9] J. W. Bos,et al. Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia , 2020, European Journal of Human Genetics.
[10] H. Bjornsson,et al. Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects. , 2019, Human molecular genetics.
[11] Jeroen F. J. Laros,et al. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data , 2019, Human mutation.
[12] Andrei L. Turinsky,et al. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants , 2019, Clinical Epigenetics.
[13] Andrei L. Turinsky,et al. New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome , 2019, BMC Medical Genomics.
[14] J. Clayton-Smith,et al. Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP , 2019, American journal of medical genetics. Part A.
[15] H. Hakonarson,et al. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome , 2019, Clinical Epigenetics.
[16] I. Krantz,et al. Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. , 2019, American journal of human genetics.
[17] A. V. Vulto-van Silfhout,et al. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. , 2019, American journal of human genetics.
[18] P. Kemmeren,et al. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders , 2018, Genetics in Medicine.
[19] S. Cheung,et al. BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes , 2018, Nature Communications.
[20] A. Haeringen,et al. Putting genome-wide sequencing in neonates into perspective , 2018, Genetics in Medicine.
[21] Rondi A. Butler,et al. An optimized library for reference-based deconvolution of whole-blood biospecimens assayed using the Illumina HumanMethylationEPIC BeadArray , 2018, Genome Biology.
[22] Louis-Philippe Morency,et al. OpenFace 2.0: Facial Behavior Analysis Toolkit , 2018, 2018 13th IEEE International Conference on Automatic Face & Gesture Recognition (FG 2018).
[23] Hanxin Lin,et al. Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes. , 2018, American journal of human genetics.
[24] S. Pajusalu,et al. Large gene panel sequencing in clinical diagnostics—results from 501 consecutive cases , 2018, Clinical genetics.
[25] K. Devriendt,et al. ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder , 2017, American journal of human genetics.
[26] N. Brunetti‐Pierri,et al. Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation , 2017, American journal of medical genetics. Part A.
[27] Andrei L. Turinsky,et al. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions , 2017, American journal of human genetics.
[28] B. Frey,et al. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder , 2017, Nature Neuroscience.
[29] R. Pfundt,et al. Diagnostic exome sequencing in 266 Dutch patients with visual impairment , 2017, European Journal of Human Genetics.
[30] G. Paré,et al. The defining DNA methylation signature of Floating-Harbor Syndrome , 2016, Scientific Reports.
[31] W. Gehring,et al. Withdrawn/Depressed Behaviors and Error-Related Brain Activity in Youth With Obsessive-Compulsive Disorder. , 2016, Journal of the American Academy of Child and Adolescent Psychiatry.
[32] R. Pfundt,et al. CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype , 2016, American journal of medical genetics. Part A.
[33] G. Messina,et al. When chromatin organisation floats astray: the Srcap gene and Floating–Harbor syndrome , 2016, Journal of Medical Genetics.
[34] M. Frost,et al. Neonatal High Bone Mass With First Mutation of the NF‐κB Complex: Heterozygous De Novo Missense (p.Asp512Ser) RELA (Rela/p65) , 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[35] A L Turinsky,et al. NSD1 mutations generate a genome-wide DNA methylation signature , 2015, Nature Communications.
[36] L. Strand,et al. Clinical exome sequencing – Norwegian findings. , 2015, Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke.
[37] D. Valle,et al. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.
[38] R. Pfundt,et al. De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. , 2015, American journal of human genetics.
[39] M. Roselló,et al. Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes , 2015, Pediatric Research.
[40] J. Couceiro,et al. The AT-Hook motif as a versatile minor groove anchor for promoting DNA binding of transcription factor fragments , 2015, Chemical science.
[41] D. Horn,et al. Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome , 2014, BMC Medical Genetics.
[42] M. Benelli,et al. 16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems. , 2014, European journal of medical genetics.
[43] Jun Huang,et al. The Human SRCAP Chromatin Remodeling Complex Promotes DNA-End Resection , 2014, Current Biology.
[44] Andrew Zisserman,et al. Diagnostically relevant facial gestalt information from ordinary photos , 2014, eLife.
[45] A. Dufke,et al. Floating‐Harbor syndrome: SRCAP mutations are not restricted to exon 34 , 2014, Clinical genetics.
[46] H. Bokhoven,et al. The genetics of cognitive epigenetics , 2014, Neuropharmacology.
[47] Christian Gilissen,et al. A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases , 2013, Human mutation.
[48] S. Horvath. DNA methylation age of human tissues and cell types , 2013, Genome Biology.
[49] A. Fischer,et al. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. , 2013, Human molecular genetics.
[50] A. Hoischen,et al. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP , 2013, Orphanet Journal of Rare Diseases.
[51] Angela D. Wilkins,et al. An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders , 2013, Cell.
[52] A. Munnich,et al. Not All Floating‐Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP , 2013, Human mutation.
[53] R. Weksberg,et al. Cross-reactive DNA microarray probes lead to false discovery of autosomal sex-associated DNA methylation. , 2012, American journal of human genetics.
[54] Peter A. Jones. Functions of DNA methylation: islands, start sites, gene bodies and beyond , 2012, Nature Reviews Genetics.
[55] Gabriele Gillessen-Kaesbach,et al. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. , 2012, American journal of human genetics.
[56] C. Lord,et al. The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors , 2010, Neuron.
[57] N. Carter,et al. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. , 2010, American journal of human genetics.
[58] Cory Y. McLean,et al. GREAT improves functional interpretation of cis-regulatory regions , 2010, Nature Biotechnology.
[59] Manuel Corpas,et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. , 2009, American journal of human genetics.
[60] J. Chrivia,et al. The Chromatin Remodeling Protein, SRCAP, Is Critical for Deposition of the Histone Variant H2A.Z at Promoters* , 2007, Journal of Biological Chemistry.
[61] A. Rustighi,et al. The second AT-hook of the architectural transcription factor HMGA2 is determinant for nuclear localization and function , 2007, Nucleic acids research.
[62] J. Gustafsson,et al. EID3 is a novel EID family member and an inhibitor of CBP-dependent co-activation , 2005, Nucleic acids research.