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Deterministic delivery of remote entanglement on a quantum network

Nature (London), 2018-06, Vol.558 (7709), p.268-273

2018

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Genetic testing and screening of individuals at risk of NF2

Clinical genetics, 2012-11, Vol.82 (5), p.416-424

2012

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Publisher Correction: Deterministic delivery of remote entanglement on a quantum network

Nature (London), 2018-10, Vol.562 (7725), p.E2-E2

2018

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Deployed measurement-device independent quantum key distribution and Bell-state measurements coexisting with standard internet data and networking equipment

Communications physics, 2022-07, Vol.5 (1), p.1-8, Article 186

2022

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

Molecular psychiatry, 2020-11, Vol.25 (11), p.3101-3102

2020

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X linked mental retardation: a clinical guide

Journal of Medical Genetics, 2006-03, Vol.43 (3), p.193-200

Raymond, F L

2006

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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

Frontiers in genetics, 2018-01, Vol.9, p.7-7

2018

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

Journal of medical genetics, 1997-10, Vol.34 (10), p.798-804

1997

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

Molecular psychiatry, 2017-11, Vol.22 (11), p.1604-1614

2017

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Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation

Clinical genetics, 2006-12, Vol.70 (6), p.509-515

2006

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

Journal of medical genetics, 2007-07, Vol.44 (7), p.472-477

2007

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Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

American journal of human genetics, 2006-05, Vol.78 (5), p.889-896

2006

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

Journal of medical genetics, 2005-09, Vol.42 (9), p.e56-e56

2005

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

Journal of medical genetics, 2018-02, Vol.55 (2), p.114-121

2018

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Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation

Clinical genetics, 2008-02, Vol.73 (2), p.188-190

2008

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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

Journal of medical genetics, 2003-03, Vol.40 (3), p.169-174

2003

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

Ultrasound in obstetrics & gynecology, 2002-09, Vol.20 (3), p.294-295

2002

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

Journal of medical genetics, 2007-03, Vol.44 (3), p.e68-e68

2007

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Genetic services for people with intellectual disability and their families

Journal of intellectual disability research, 2003-10, Vol.47 (7), p.509-514

Raymond, F. L.

2003

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

Journal of medical genetics, 2003-09, Vol.40 (9), p.682-684

2003

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Fetal echocardiography as a predictor of chromosomal abnormality

The Lancet (British edition), 1997-09, Vol.350 (9082), p.930-930

1997

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Genetic research on rare familial disorders: consent and the blurred boundaries between clinical service and research

Journal of medical ethics, 2008-09, Vol.34 (9), p.690-694

2008

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Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects

Journal of medical genetics, 1997-08, Vol.34 (8), p.679-682

1997

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Spinal muscular atrophy of childhood: genetics

Developmental medicine and child neurology, 1997-06, Vol.39 (6), p.419-420

MRCP, F L Raymond MA DPhil

1997

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Deterministic delivery of remote entanglement on a quantum network

Genetic testing and screening of individuals at risk of NF2

Publisher Correction: Deterministic delivery of remote entanglement on a quantum network

Deployed measurement-device independent quantum key distribution and Bell-state measurements coexisting with standard internet data and networking equipment

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

X linked mental retardation: a clinical guide

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

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

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

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

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation

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

Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

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

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

Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation

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

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

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

Genetic services for people with intellectual disability and their families

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

Fetal echocardiography as a predictor of chromosomal abnormality

Genetic research on rare familial disorders: consent and the blurred boundaries between clinical service and research

Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects

Spinal muscular atrophy of childhood: genetics

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