De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

A gene atlas of the mouse and human protein-encoding transcriptomes

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Exome sequencing identifies the cause of a mendelian disorder

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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NOONAN SYNDROME AND RELATED DISORDERS: Genetics and Pathogenesis

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A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs

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Massively parallel sequencing of ataxia genes after array-based enrichment

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Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia‐associated protein SET

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SET-domain proteins of the Su(var)3-9, E(z) and Trithorax families

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There are two major types of skeletal keratan sulphates

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Fusion of NUP98 and the SET binding protein 1 (SETBP1) gene in a paediatric acute T cell lymphoblastic leukaemia with t(11;18)(p15;q12)

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Chick cartilage chondroitin sulfate proteoglycan core protein. I. Generation and characterization of peptides and specificity for glycosaminoglycan attachment.

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Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria

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Further clinical and sensorial delineation of Schinzel‐Giedion syndrome: Report of two cases

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Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome

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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

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A de novo paradigm for mental retardation.

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Presence of Genetic Variants Among Young Men With Severe COVID-19

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Refining analyses of copy number variation identifies specific genes associated with developmental delay

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Genetic studies in intellectual disability and related disorders

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A de novo convergence of autism genetics and molecular neuroscience

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De Novo Mutations in Moderate or Severe Intellectual Disability

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Exome sequencing and the genetic basis of complex traits

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Genetic and Epigenetic Networks in Intellectual Disabilities

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Genomics, Intellectual Disability, and Autism

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Clonal diversity of recurrently mutated genes in myelodysplastic syndromes

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Prioritization of neurodevelopmental disease genes by discovery of new mutations

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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

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Whole exome sequencing in family trios reveals <i>de novo</i> mutations in <i>PURA</i> as a cause of severe neurodevelopmental delay and learning disability

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Whole-exome sequencing reveals <i>LRP5</i> mutations and canonical Wnt signaling associated with hepatic cystogenesis

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[Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient].

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Whole exome sequencing improves mutation detection in Hailey–Hailey disease

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CYP1B1, MYOC, and LTBP2 Mutations in Primary Congenital Glaucoma Patients in the United States

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Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study

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Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing

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