L. Raymond

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Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Genotype-phenotype relationships in children with copy number variants associated with high neuropsychiatric risk: Findings from the Intellectual Disability & Mental Health: Assessing the Genomic Impact on Neurodevelopment (IMAGINE-ID) study

D. Skuse, M. Owen, P. Holmans, 2019, bioRxiv.

Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

J. Gécz, P. Tarpey, C. Skinner, 2019, Molecular genetics & genomic medicine.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Shane A. McCarthy, Richard D Emes, Klaudia Walter, 2017, Nature Communications.

Spinal muscular atrophy diagnosis and carrier screening from whole-genome sequencing data

Courtney E. French, D. Bentley, M. Eberle, 2020 .

Observing Huntington’s Disease: the European Huntington’s Disease Network’s REGISTRY

Alexander Münchau, Caroline Hallam, Andrea Ciarmiello, 2011, PLoS currents.

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

A clinical and molecular characterisation of CRB1-associated maculopathy

G. Holder, O. Mahroo, K. Carss, 2018, European Journal of Human Genetics.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Gail Clement, Jie Huang, Antonio Ciampi, 2014, Nature Communications.

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

David Evans, D. Evans, A. Shaw, 2015, Journal of Medical Genetics.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Klaudia Walter, Nicholas J Timpson, 2015, Nature Communications.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases

Christopher Campbell, Rachel L. Taylor, Catriona Tate, 2017, Journal of Medical Genetics.

UK 10 K Consortium

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2019 .

Phenotypic insights into ADCY5‐associated disease

D. Grozeva, V. Fung, N. Mahant, 2016, Movement disorders : official journal of the Movement Disorder Society.

Genotype-phenotype relationships in children with Copy Number Variants associated with high neuropsychiatric risk: Findings from the case-control IMAGINE-ID cohort in the United Kingdom

D. Skuse, M. Owen, P. Holmans, 2019 .

Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease

Courtney E. French, R. Kooy, G. Vandeweyer, 2021, Scientific Reports.

Biallelic Mutations of TBC1D24 in Exercise‐Induced Paroxysmal Dystonia

M. Kurian, L. Raymond, Alba Sanchis-Juan, 2020, Movement disorders : official journal of the Movement Disorder Society.

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

M. Shaw, J. Gécz, A. Reis, 2016, Journal of Medical Genetics.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Shane A. McCarthy, R. Durbin, Klaudia Walter, 2016, Nature Communications.

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

C. Cytrynbaum, C. Marshall, A. Noor, 2015, Clinical genetics.

A clinical and molecular characterisation of CRB1-associated maculopathy

G. Holder, O. Mahroo, K. Carss, 2018, European Journal of Human Genetics.

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Konrad Scheffler, Giuseppe Narzisi, Dorothea Emig-Agius, 2019, bioRxiv.

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Courtney E. French, D. Bentley, M. Eberle, 2019 .

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

M. Fichera, C. Romano, D. Grozeva, 2015, Journal of Human Genetics.

A Novel ATRX Mutation Presenting with Intellectual Disability and Severe Kyphoscoliosis

L. Raymond, Şule Altıner, 2020, Fetal and pediatric pathology.

Managing clinically significant findings in research: the UK10K example

Francesco Muntoni, Jane Kaye, Dawn Muddyman, 2014, European Journal of Human Genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration

J. Marsh, K. Carss, G. Arno, 2018, Ophthalmic genetics.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

NMDA receptor gene variations as modifiers in Huntington disease: a replication study

J. Schiefer, R. Barker, R. Reilmann, 2011, PLoS currents.

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

Robert W. Taylor, R. Horvath, E. Ostergaard, 2021, Human molecular genetics.

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases

P. Chinnery, R. Horvath, D. Greene, 2021, Nucleic acids research.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease

D. Grozeva, P. Kind, H. R. Crollius, 2020, bioRxiv.

Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study.

D. Skuse, M. Owen, P. Holmans, 2019, The lancet. Psychiatry.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

illustrated by a case of Rieger syndrome . complex chromosome rearrangements A new approach to the elucidation of

C. Ogilvie, Z. Docherty, L. Raymond, 2022 .

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature Communications.

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

David Evans, A. Shaw, D. Halliday, 2015, Journal of Medical Genetics.