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John L. McNulty (1955-2023)

The American psychologist, 2024-07, Vol.79 (5), p.784-784

2024

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Medical management and surgery versus medical management alone for symptomatic cerebral cavernous malformation (CARE): a feasibility study and randomised, open, pragmatic, pilot phase trial

Lancet neurology, 2024-06, Vol.23 (6), p.565-576

2024

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Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

European journal of medical genetics, 2024-02, Vol.67, p.104907-104907, Article 104907

2024

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Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent

Genetics in medicine, 2023-10, Vol.25 (10), p.100963-100963, Article 100963

2023

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Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent

Genetics in medicine, 2023-09, Vol.25 (9), p.100846-100846, Article 100846

2023

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British Society of Echocardiography guideline for the transthoracic echocardiographic assessment of cardiac amyloidosis

Echo research and practice, 2023-08, Vol.10 (1), p.13-13, Article 13

2023

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Feasibility of comparing medical management and surgery (with neurosurgery or stereotactic radiosurgery) with medical management alone in people with symptomatic brain cavernoma - protocol for the Cavernomas: A Randomised Effectiveness (CARE) pilot trial

BMJ open, 2023-08, Vol.13 (8), p.e075187-e075187

2023

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Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers

Journal of medical genetics, 2023-08, Vol.60 (8), p.740

2023

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Evaluation and deployment of isotype-specific salivary antibody assays for detecting previous SARS-CoV-2 infection in children and adults

Communications medicine, 2023-03, Vol.3 (1), p.37-37, Article 37

2023

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Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence

American journal of medical genetics. Part A, 2023-03, Vol.191 (3), p.730-741

2023

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Review of factors affecting stress-free temperature in the continuous welded rail track

Energy reports, 2022-11, Vol.8, p.107-113

2022

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Grain characterisation of fresh and used railway ballast

Granular matter, 2022-11, Vol.24 (4), Article 96

2022

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Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel

Genetics in medicine, 2022-07, Vol.24 (7), p.1485-1494

2022

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Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy–epispadias complex

Journal of pediatric urology, 2022-06, Vol.18 (3), p.362.e1-362.e8

2022

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Extended gene panel testing in lobular breast cancer

Familial cancer, 2022-04, Vol.21 (2), p.129-136

2022

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High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

Journal of medical genetics, 2022-02, Vol.59 (2), p.115

2022

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Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries

International journal of epidemiology, 2022-01, Vol.50 (6), p.1897-1911

2022

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Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries

International journal of epidemiology, 2022-01, Vol.50 (6), p.1897-1911

2022

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The importance of ethnicity: Are breast cancer polygenic risk scores ready for women who are not of White European origin?

International journal of cancer, 2022-01, Vol.150 (1), p.73-79

2022

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Identifying cellular signalling molecules in developmental disorders of the brain: Evidence from focal cortical dysplasia and tuberous sclerosis

Neuropathology and applied neurobiology, 2021-10, Vol.47 (6), p.781-795

2021

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Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer

Genetics in medicine, 2021-10, Vol.23 (10), p.1969-1976

2021

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Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability

Cancers, 2021-08, Vol.13 (16), p.4154

2021

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Vitamin B12 Absorption as Measured by Total B12 and Holo-TC Following A Single Oral Dose of Multivitamin in Healthy Adults

Current developments in nutrition, 2021-06, Vol.5 (Supplement_2), p.1332-1332

2021

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Mental health need of students at entry to university: Baseline findings from the U‐Flourish Student Well‐Being and Academic Success Study

Early intervention in psychiatry, 2021-04, Vol.15 (2), p.286-295

2021

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Transthoracic echocardiography of hypertrophic cardiomyopathy in adults: a practical guideline from the British Society of Echocardiography

Echo research and practice, 2021-03, Vol.8 (1), p.G61-G86

2021

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John L. McNulty (1955-2023)

Medical management and surgery versus medical management alone for symptomatic cerebral cavernous malformation (CARE): a feasibility study and randomised, open, pragmatic, pilot phase trial

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype

Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent

Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent

British Society of Echocardiography guideline for the transthoracic echocardiographic assessment of cardiac amyloidosis

Feasibility of comparing medical management and surgery (with neurosurgery or stereotactic radiosurgery) with medical management alone in people with symptomatic brain cavernoma - protocol for the Cavernomas: A Randomised Effectiveness (CARE) pilot trial

Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers

Evaluation and deployment of isotype-specific salivary antibody assays for detecting previous SARS-CoV-2 infection in children and adults

Clinically diverse and perinatally lethal syndromes with urorectal septum malformation sequence

Review of factors affecting stress-free temperature in the continuous welded rail track

Grain characterisation of fresh and used railway ballast

Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel

Narrowing the chromosome 22q11.2 locus duplicated in bladder exstrophy–epispadias complex

Extended gene panel testing in lobular breast cancer

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries

Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries

The importance of ethnicity: Are breast cancer polygenic risk scores ready for women who are not of White European origin?

Identifying cellular signalling molecules in developmental disorders of the brain: Evidence from focal cortical dysplasia and tuberous sclerosis

Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer

Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability

Vitamin B12 Absorption as Measured by Total B12 and Holo-TC Following A Single Oral Dose of Multivitamin in Healthy Adults

Mental health need of students at entry to university: Baseline findings from the U‐Flourish Student Well‐Being and Academic Success Study

Transthoracic echocardiography of hypertrophic cardiomyopathy in adults: a practical guideline from the British Society of Echocardiography

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