De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
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A. V. Vulto-van Silfhout | R. Pfundt | M. Reijnders | J. Hehir-Kwa | B. D. de Vries | H. Brunner | I. Thiffault | A. Afenjar | C. Gilissen | R. Kuiper | T. Kleefstra | J. Thevenon | V. Hwa | A. Dauber | L. Wiel | M. Griese | E. Waanders | N. Hoogerbrugge | M. Wagner | A. Boel | B. Callewaert | N. Verbeek | K. V. van Gassen | J. Vodopiutz | B. Keren | G. Beunders | C. Nava | L. Perrin | M. Cadieux-Dion | A. Dingemans | Roos van der Donk | Kristina Baltrunaite | V. Konstantopoulou | L. Huerta-Saenz | S. Bartz | I. Diets | Bethany Peri | M. Jongmans | Margot R. F. Reijnders
[1] G. Vriend,et al. MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains , 2019, bioRxiv.
[2] P. Kemmeren,et al. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders , 2018, Genetics in Medicine.
[3] Neil A. Miller,et al. On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing , 2018, Human mutation.
[4] Dustin E. Schones,et al. JMJD1B Demethylates H4R3me2s and H3K9me2 to Facilitate Gene Expression for Development of Hematopoietic Stem and Progenitor Cells , 2018, Cell reports.
[5] A. Wagner,et al. High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer , 2018, Clinical Cancer Research.
[6] Joshua C Randall,et al. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. , 2018, American journal of human genetics.
[7] H. Drexler,et al. KDM3B shows tumor-suppressive activity and transcriptionally regulates HOXA1 through retinoic acid response elements in acute myeloid leukemia , 2018, Leukemia & lymphoma.
[8] B. D. de Vries,et al. Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability , 2017, BMC Biotechnology.
[9] S. Pfister,et al. Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk , 2017, Clinical Cancer Research.
[10] Deciphering Developmental Disorders Study,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[11] Joan,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[12] Mingming Jia,et al. COSMIC: somatic cancer genetics at high-resolution , 2016, Nucleic Acids Res..
[13] S. Nelson,et al. Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation , 2016, npj Genomic Medicine.
[14] K. Seeger,et al. EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis , 2016, American journal of medical genetics. Part A.
[15] Xian Chen,et al. Knockout of the Histone Demethylase Kdm3b Decreases Spermatogenesis and Impairs Male Sexual Behaviors , 2015, International journal of biological sciences.
[16] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[17] D. Valle,et al. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene , 2015, Human mutation.
[18] M. Esteller,et al. Mutations in JMJD1C are involved in Rett syndrome and intellectual disability , 2015, Genetics in Medicine.
[19] Xian Chen,et al. The Histone H3K9 Demethylase Kdm3b Is Required for Somatic Growth and Female Reproductive Function , 2015, International journal of biological sciences.
[20] Aleksey A. Porollo,et al. An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome. , 2015, The Journal of clinical endocrinology and metabolism.
[21] Tomas W. Fitzgerald,et al. Large-scale discovery of novel genetic causes of developmental disorders , 2014, Nature.
[22] Xuan Yuan,et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders , 2014, Science Translational Medicine.
[23] D. Rujescu,et al. Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes , 2014, PloS one.
[24] Andrew Zisserman,et al. Diagnostically relevant facial gestalt information from ordinary photos , 2014, eLife.
[25] Gabor T. Marth,et al. Novel somatic and germline mutations in intracranial germ cell tumours , 2014, Nature.
[26] N. Conneman,et al. A case of Rubinstein‐Taybi syndrome and congenital neuroblastoma , 2014, American journal of medical genetics. Part A.
[27] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[28] O. Delattre,et al. Rubinstein–Taybi syndrome predisposing to non‐WNT, non‐SHH, group 3 medulloblastoma , 2014, Pediatric blood & cancer.
[29] S. Seal,et al. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype , 2013, American journal of medical genetics. Part A.
[30] F. Crea,et al. Histone lysine demethylases in breast cancer. , 2013, Critical reviews in oncology/hematology.
[31] I. Clay,et al. Protein Complex Interactor Analysis and Differential Activity of KDM3 Subfamily Members Towards H3K9 Methylation , 2013, PloS one.
[32] B. V. van Bon,et al. Diagnostic exome sequencing in persons with severe intellectual disability. , 2012, The New England journal of medicine.
[33] D. Horn,et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study , 2012, The Lancet.
[34] Ji-Young Kim,et al. KDM3B Is the H3K9 Demethylase Involved in Transcriptional Activation of lmo2 in Leukemia , 2012, Molecular and Cellular Biology.
[35] M. Digilio,et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. , 2012, American journal of human genetics.
[36] Rolf P Wurtz,et al. Automated syndrome detection in a set of clinical facial photographs , 2011, American journal of medical genetics. Part A.
[37] L. Campbell,et al. A cryptic deletion in 5q31.2 provides further evidence for a minimally deleted region in myelodysplastic syndromes. , 2011, Cancer genetics.
[38] Shekhar Saxena,et al. Prevalence of intellectual disability: a meta-analysis of population-based studies. , 2011, Research in developmental disabilities.
[39] Christian Gilissen,et al. A de novo paradigm for mental retardation , 2010, Nature Genetics.
[40] H. Ropers. Genetics of early onset cognitive impairment. , 2010, Annual review of genomics and human genetics.
[41] Emily H Turner,et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.
[42] S. Seo,et al. Regulation of mouse steroidogenesis by WHISTLE and JMJD1C through histone methylation balance , 2010, Nucleic Acids Research.
[43] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[44] Tobias Vollmar,et al. Syndrome identification based on 2D analysis software , 2006, European Journal of Human Genetics.
[45] A. Karmiloff-Smith,et al. Discriminating power of localized three-dimensional facial morphology. , 2005, American journal of human genetics.
[46] N. Rahman,et al. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. , 2005, American journal of human genetics.
[47] Z. Arbieva,et al. A novel nuclear protein, 5qNCA (LOC51780) is a candidate for the myeloid leukemia tumor suppressor gene on chromosome 5 band q31 , 2001, Oncogene.
[48] Mahadev Satyanarayanan,et al. OpenFace: A general-purpose face recognition library with mobile applications , 2016 .
[49] S. Henikoff,et al. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.