Christian Robert Marshall

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Christian Robert



Publications in SciGraph latest 50 shown

  • 2021-11-04 A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder in NPJ GENOMIC MEDICINE
  • 2021-02-01 Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia in TRANSLATIONAL PSYCHIATRY
  • 2020-10-23 Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease in NPJ GENOMIC MEDICINE
  • 2020-05-27 The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic in GENOME MEDICINE
  • 2020-04-21 A framework for an evidence-based gene list relevant to autism spectrum disorder in NATURE REVIEWS GENETICS
  • 2019-11-12 Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations in BMC GENOMICS
  • 2019-10-07 A large data resource of genomic copy number variation across neurodevelopmental disorders in NPJ GENOMIC MEDICINE
  • 2019-06-27 Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin? in ORPHANET JOURNAL OF RARE DISEASES
  • 2019-02-07 Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2018-10-08 De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome in GENETICS IN MEDICINE
  • 2018-02-16 Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-11-30 Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia in GENOME MEDICINE
  • 2017-11-20 Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-11-09 Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly in MOLECULAR AUTISM
  • 2017-08-17 Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing in GENETICS IN MEDICINE
  • 2017-06-26 Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10 in MOLECULAR AUTISM
  • 2017-05-26 Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study in NPJ GENOMIC MEDICINE
  • 2017-05-04 A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder in GENETICS IN MEDICINE
  • 2017-04-05 Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2017-03-06 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder in NATURE NEUROSCIENCE
  • 2016-10-18 Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2016-09-14 De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients in NPJ GENOMIC MEDICINE
  • 2016-08-03 Genome-wide characteristics of de novo mutations in autism in NPJ GENOMIC MEDICINE
  • 2016-07-01 Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay in SCIENTIFIC REPORTS
  • 2016-05-12 Recommendations for the integration of genomics into clinical practice in GENETICS IN MEDICINE
  • 2016-01-13 Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine in NPJ GENOMIC MEDICINE
  • 2015-08-03 Clinically relevant copy number variations detected in cerebral palsy in NATURE COMMUNICATIONS
  • 2015-07-25 Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy in ACTA NEUROPATHOLOGICA COMMUNICATIONS
  • 2015-05-24 Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene in MOLECULAR GENETICS AND GENOMICS
  • 2015-01-26 Whole-genome sequencing of quartet families with autism spectrum disorder in NATURE MEDICINE
  • 2015-01-15 Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome in BMC GENOMICS
  • 2014-12-11 A high-resolution copy-number variation resource for clinical and population genetics in GENETICS IN MEDICINE
  • 2014-11-29 Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes in HUMAN GENETICS
  • 2014-11-08 Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing in FAMILIAL CANCER
  • 2014-10-29 Synaptic, transcriptional, and chromatin genes disrupted in autism in NATURE
  • 2014-07-31 Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature in GENETICS IN MEDICINE
  • 2014-06-25 Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2014-06-11 The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia in HUMAN GENETICS
  • 2014-05-25 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder in NATURE GENETICS
  • 2014-04-22 CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems in JOURNAL OF NEURODEVELOPMENTAL DISORDERS
  • 2014-04-10 Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders in MOLECULAR AUTISM
  • 2014-03-25 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge in GENOME BIOLOGY
  • 2014-03-20 Adult expression of a 3q13.31 microdeletion in MOLECULAR CYTOGENETICS
  • 2014-03-19 Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families in NEUROGENETICS
  • 2012-09-27 1q21.1 Microduplication expression in adults in GENETICS IN MEDICINE
  • 2012-06-05 Identification of germline genomic copy number variation in familial pancreatic cancer in HUMAN GENETICS
  • 2011-12-08 Detection and Characterization of Copy Number Variation in Autism Spectrum Disorder in GENOMIC STRUCTURAL VARIANTS
  • 2011-11-21 Variant detection and the Autism sequencing project in BMC BIOINFORMATICS
  • 2011-11-16 Severe intellectual disability and autistic features associated with microduplication 2q23.1 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-10-14 A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder in HUMAN GENETICS
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