F. Raymond

Amita Sharma, F. Raymond, Tomoyuki Watanabe, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Chin Yang Shapland, 2018, bioRxiv.

Surgical Management of Vestibular Schwannomas and Hearing Rehabilitation in Neurofibromatosis Type 2

F. Raymond, R. Knight, J. Tysome, 2012, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)

S. Holden, F. Raymond, D. Trump, 2003, Journal of medical genetics.

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

M. Hurles, D. Grozeva, Soo-Mi Park, 2014, American journal of human genetics.

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

M. Stratton, P. Futreal, S. Edkins, 2007, Journal of Medical Genetics.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

Steven J. M. Jones, Ryan D. Morin, Richard A. Moore, 2010, American journal of human genetics.

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A. Green, P. Scambler, E. Hatchwell, 1997, Journal of medical genetics.

Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.

Irene Gottlob, A. S. Anil Kumar, Andrea Langmann, 2008, Brain : a journal of neurology.

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM

F. Raymond, K. Carss, G. Arno, 2017, Retina.

SYT1-associated neurodevelopmental disorder: a case series

Ingo Borggraefe, Giuseppe Marangi, Yunyun Jiang, 2018, Brain : a journal of neurology.

Fetal echocardiography as a predictor of chromosomal abnormality

F. Raymond, J. Simpson, G. Sharland, 1997, The Lancet.

Novel deletion variants of 9q13–q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin

I. Simonic, J. Barber, L. Willatt, 2007, European Journal of Human Genetics.

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

J. Gécz, M. Stratton, P. Futreal, 2007, Nature Genetics.

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.

J. Gécz, M. Stratton, P. Futreal, 2008, American journal of human genetics.

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

E. Haan, J. Gécz, C. Schwartz, 2014, American journal of human genetics.

Psychiatric disorders in children with 16p11.2 deletion and duplication

W. Chung, D. Skuse, M. Owen, 2019, Translational Psychiatry.

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Alessandra Renieri, Bernard Keavney, Michael Field, 2015, Human mutation.

Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study

P. Fletcher, F. Raymond, G. Scerif, 2015, Journal of Neurodevelopmental Disorders.

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

J. Clayton-Smith, P. Blackburn, F. Raymond, 2019, American journal of medical genetics. Part A.

Hyperphagia, Severe Obesity, Impaired Cognitive Function, and Hyperactivity Associated With Functional Loss of One Copy of the Brain-Derived Neurotrophic Factor (BDNF) Gene

J. Hodges, S. O’Rahilly, G. Yeo, 2006, Diabetes.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Mark T. Handley, M. Hurles, D. Grozeva, 2017, Genetics in Medicine.

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Peter M. G. Munro, G. Holder, V. Plagnol, 2016, American journal of human genetics.

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

F. Cremers, G. Holder, F. Raymond, 2016, Investigative ophthalmology & visual science.

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.

Monogenic Causes of Mental Retardation

F. Raymond, 2010 .

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

F. Grassmann, H. Stöhr, F. Cremers, 2019, Genetics in Medicine.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, R. Møller, M. Shinawi, 2020, Genetics in Medicine.

Genetic investigation for adults with intellectual disability: opportunities and challenges.

N. Bass, F. Raymond, K. Baker, 2012, Current Opinion in Neurology.

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

S. Mundlos, S. Mead, M. Mhlanga, 2020, American journal of human genetics.

Human Mutation

T. Rosenberg, F. Raymond, K. Carss, 2019 .

Kelly A. Mills, Elizabeth L. Fieg, M. Hallett, 2020, Brain : a journal of neurology.

Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic origin

D. Skuse, M. Owen, F. Raymond, 2023, JCPP advances.

Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions

D. Skuse, M. Owen, N. Williams, 2023, Translational Psychiatry.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

M. Shaw, J. Gécz, M. Stratton, 2010, American journal of human genetics.

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability

D. Grozeva, P. Kind, J. Prendergast, 2021, PloS one.

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

D. Grozeva, J. Veltman, T. O’Connor, 2016, Molecular Psychiatry.

GNAO1 encephalopathy Broadening the phenotype and evaluating treatment and outcome

N. Mahant, E. Valente, F. Raymond, 2022 .

gene MED12 missense mutation (p.N1007S) in the The original Lujan syndrome family has a novel

M. Stratton, S. Edkins, J. Teague, 2008 .

The genetics of mental retardation.

P. Tarpey, F. Raymond, F. L. Raymond, 2006, Human molecular genetics.

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

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

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

Detelina Grozeva, D. Grozeva, M. Botella, 2018, Front. Genet..

First-line genomic diagnosis of mitochondrial disorders

P. Chinnery, F. Raymond, R. Horvath, 2018, Nature Reviews Genetics.

dependent probe amplification and are readily identifiable by multiplex ligation deletions cause 5% of Sotos syndrome NSD1 Partial

Y. Gillerot, A. Irrthum, I. Temple, 2006 .

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

N. Rahman, J. Schouten, Y. Gillerot, 2005, Journal of Medical Genetics.

Partial NSD 1 deletions cause 5 % of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

J. Schouten, Y. Gillerot, A. Irrthum, 2005 .

Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation

J. Cox, S. Holden, F. Raymond, 2003, Journal of medical genetics.

Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.

J. Klossek, F. Raymond, D. Bonneau, 1993, Journal of medical genetics.

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

F. Cremers, F. Raymond, H. Venselaar, 2016, Investigative ophthalmology & visual science.

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.

R. Pfundt, Pedro Rebelo-Guiomar, M. Minczuk, 2018, American journal of human genetics.

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

L. Vissers, J. Hardy, C. Davies, 2016, American journal of human genetics.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

Targeted Next Generation Sequencing Analysis of 1000 individuals with Intellectual Disability

Roger E. Stevenson, Alessandra Renieri, Bernard Keavney, 2015 .

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.

K. Friend, M. Shaw, J. Gécz, 2007, American journal of human genetics.

Title : Psychiatric disorders in children with 16 p 11 . 2 deletion and duplication . Running title : Psychopathology in 16 p 11 . 2 deletion / duplication

W. Chung, M. Owen, R. Bernier, 2018 .

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Robert W. Taylor, Courtney E. French, A. Pagnamenta, 2018, American Journal of Human Genetics.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.

Mutation of ARHGEF 18 causes adult-onset retinal degeneration and underscores a key role of apicobasal polarity proteins in the maintenance of human photoreceptors

G. Holder, V. Plagnol, F. Raymond, 2022 .

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

P. Yu-Wai-Man, F. Raymond, G. Lenaers, 2021, Investigative ophthalmology & visual science.

The antigenicity and evolution of influenza H1 haemagglutinin, from 1950-1957 and 1977-1983: two pathways from one gene.

N. Cox, A. Kendal, F. Raymond, 1986, Virology.

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

Torsten Baldeweg, Matthew E Hurles, Edward Blair, 2015, The Journal of clinical investigation.

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation

D. Baralle, M. Raponi, F. Raymond, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

The psychiatric phenotypes of 1q21 distal deletion and duplication

W. Chung, D. Skuse, M. Owen, 2021, Translational Psychiatry.

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.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.

J. Gécz, M. Stratton, P. Futreal, 2006, American journal of human genetics.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

First-line genomic diagnosis of mitochondrial disorders

P. Chinnery, F. Raymond, R. Horvath, 2018, Nature Reviews Genetics.

Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations

T. Baldeweg, J. Gillard, F. Raymond, 2015, Annals of clinical and translational neurology.

SYT1-associated neurodevelopmental disorder: a case series

R. Gibbs, S. Boyd, I. Borggraefe, 2018, Brain : a journal of neurology.

Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2017, Nature Genetics.

SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

P. Yu-Wai-Man, F. Raymond, G. Arno, 2021, Investigative ophthalmology & visual science.

Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

A. Rigby, F. Raymond, M. Losekoot, 2006, Journal of Medical Genetics.

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, W. Chung, R. Møller, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

F. Grassmann, H. Stöhr, F. Cremers, 2019, Genetics in Medicine.

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

G. Holder, V. Plagnol, F. Raymond, 2016, Investigative ophthalmology & visual science.

Hypophosphatasia associated with increased nuchal translucency: a report of two affected pregnancies

K. Nicolaides, K. Nicolaides, F. Raymond, 2002, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Delineating the expanding phenotype associated with SCAPER gene mutation

Rui Chen, F. Raymond, K. Carss, 2019, American journal of medical genetics. Part A.

Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions

Eleanor F. Dewhurst, D. Skuse, M. Owen, 2023, JCPP Advances.

Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication

W. Chung, D. Skuse, M. Owen, 2019, Translational Psychiatry.

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

A. Need, C. Rivolta, M. Bleda, 2022, npj Genomic Medicine.

Recommendations for designing genetic test reports to be understood by patients and non-specialists

George D. Farmer, F. Raymond, A. Freeman, 2020, European Journal of Human Genetics.

Antigenic variation in influenza virus.

J. Yewdell, F. Raymond, W. Gerhard, 1983, Biochemical Society Transactions.