Ajith Kumar

发表

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Morad Ansari, Alejandro Sifrim, Matthew E Hurles, 2015, Nature Genetics.

Cost-effectiveness of Population Screening for BRCA Mutations in Ashkenazi Jewish Women Compared With Family History–Based Testing

J. Wardle, I. Jacobs, U. Menon, 2014, Journal of the National Cancer Institute.

Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family

M. Korbonits, P. Goadsby, H. Storr, 2018, International journal of endocrinology.

Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.

M. Korbonits, S. Akker, H. Storr, 2014, The Journal of clinical endocrinology and metabolism.

Heart Disease Prediction using Data Mining Techniques

Tanuja, N. Deepa, Ajith Kumar, 2017 .

SDHA mutated paragangliomas may be at high risk of metastasis.

D. Berney, U. Srirangalingam, W. Drake, 2017, Endocrine-related cancer.

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

U. Srirangalingam, S. Chew, S. Hodgson, 2013, Clinical endocrinology.

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

S. Seal, N. Rahman, D. Baralle, 2014, Nature genetics.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Genetic Neurological and Psychiatric Diseases

M. Patton, Dhavendra Kumar, Ajith Kumar, 2004 .

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Edinburgh Research Explorer Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Panagiotis, P. Donnelly, M. McCarthy, 2018 .

Inherited 2q23.1 microdeletions involving the MBD5 locus

A. Collins, D. Josifova, J. Waters, 2017, Molecular genetics & genomic medicine.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

J. Hurst, P. Clouston, E. Giannoulatou, 2022, bioRxiv.

Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers

D. Berney, U. Srirangalingam, S. Chew, 2016, Clinical endocrinology.

Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma

N. Rahman, S. Hanks, C. Stiller, 2011, Familial Cancer.

Expanding the phenotype of TAB2 variants and literature review

J. Rankin, T. Homfray, A. Brady, 2022, American journal of medical genetics. Part A.

An analysis of surveillance screening for SDHB-related disease in childhood and adolescence

W. Drake, S. Akker, H. Storr, 2019, Endocrine connections.

Succinate Dehydrogenase B (SDHB)‐Associated Bladder Paragangliomas

U. Srirangalingam, S. Chew, M. Korbonits, 2017, Clinical genitourinary cancer.

Familial pituitary adenomas – who should be tested for AIP mutations?

M. Korbonits, H. Storr, Ajith Kumar, 2012, Clinical endocrinology.

Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations

J. Wardle, I. Jacobs, U. Menon, 2016, Journal of Medical Genetics.

Population Testing for Cancer Predisposing BRCA1/BRCA2 Mutations in the Ashkenazi-Jewish Community: A Randomized Controlled Trial

J. Wardle, I. Jacobs, U. Menon, 2014, Journal of the National Cancer Institute.

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

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

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy

I. Scheffer, J. Cross, J. Cross, 2018, Neurology.

Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2014, Nature Genetics.

Germline mutations in RAD51D confer susceptibility to ovarian cancer

Deborah Hughes, Nazneen Rahman, Elise Ruark, 2011, Nature Genetics.

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

D. Goudie, T. Pippucci, R. Newbury-Ecob, 2020, Brain : a journal of neurology.

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

AIP mutation in pituitary adenomas in the 18th century and today.

Richard L. Abel, D. Balding, Mark George Thomas, 2011, The New England journal of medicine.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

Role of Human papilloma virus infection and altered methylation of specific genes in esophageal cancer.

Ajith Kumar, Q. Hasan, Ajith Kumar, 2013, Asian Pacific journal of cancer prevention : APJCP.

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study

D. Evans, R. Legood, G. Burghel, 2021, Cancers.

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

J. Hurst, R. Scott, R. Quinlivan, 2014, European Journal of Human Genetics.

Clinical rabies: is cure possible?

Ajith Kumar, K. Sudeep, Mithun C. Mohan, 2014 .

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.

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Julian R. E. Davis, H. Randeva, R. Eeles, 2020, The Journal of clinical endocrinology and metabolism.

Characterization of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutations in Familial Isolated Pituitary Adenoma Families

U. Srirangalingam, S. Ellard, M. Korbonits, 2010, Human mutation.

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

M. Korbonits, S. Hodgson, N. Canham, 2013, The Journal of clinical endocrinology and metabolism.

Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort

Julian R. E. Davis, R. Eeles, U. Srirangalingam, 2014, The Journal of clinical endocrinology and metabolism.

Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland

D. Balding, Mark George Thomas, S. Ellard, 2016, Human mutation.

Large genomic deletions in AIP in pituitary adenoma predisposition.

Louise Izatt, Marc Tischkowitz, Anneke Lucassen, 2008, The Journal of clinical endocrinology and metabolism.

Tumour risks and genotype–phenotype–proteotype analysis of patients with germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD

D. Goudie, N. Bradshaw, F. Lalloo, 2016, The Lancet.

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

Peter Donnelly, Mark I. McCarthy, Nazneen Rahman, 2012, Nature.

Congenital Cataracts, Facial Dysmorphism, and Neuropathy: Two Affected Siblings in the United Kingdom

L. Carr, Ajith Kumar, R. Bowman, 2016, Journal of Pediatric Neurology.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Ellen F. Macnamara, Theodore G. Drivas, J. Constantino, 2023, Science advances.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

A Large Pheochromocytoma With Invasion of Multiple Local Organs

W. Weintraub, Ajith Kumar, E. Rahman, 2011, Journal of clinical hypertension.

Gene-gene interactions in breast cancer susceptibility.

Deborah Hughes, Peter Donnelly, Jonathan Berg, 2012, Human molecular genetics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

K. Stirrups, C. Penkett, K. Megy, 2018, American journal of human genetics.

Cost-effectiveness of Population Screening for BRCA Mutations in Ashkenazi Jewish Women Compared With Family History–Based Testing

J. Wardle, I. Jacobs, U. Menon, 2014, Journal of the National Cancer Institute.

Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort

Julian R. E. Davis, R. Eeles, U. Srirangalingam, 2014, The Journal of clinical endocrinology and metabolism.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

Trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities.

S. Mohammed, M. Seller, Ajith Kumar, 2004, Clinical dysmorphology.

A Large Pheochromocytoma With Invasion of Multiple Local Organs

W. Weintraub, Ajith Kumar, E. Rahman, 2011, Journal of clinical hypertension.