M. Humphreys

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Large-scale discovery of novel genetic causes of developmental disorders

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

3′ CBFβ deletion associated with inv(16) in acute myeloid leukemia

M. Neat, M. Humphreys, H. Enright, 2005 .

The prognostic value of FISH as an adjunct to conventional cytogenetics for the detection of cryptic gene rearrangements on chromosome 16. A retrospective investigation of 13 patients from Northern Ireland diagnosed with M4Eo acute myeloid leukaemia.

M. Humphreys, P. McGrattan, 2003, The Ulster medical journal.

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.

Transformation of cytogenetically normal chronic myelomonocytic leukaemia to an acute myeloid leukaemia and the emergence of a novel +13,+15 double trisomy resulting in an adverse outcome

M. McMullin, M. Humphreys, P. McGrattan, 2007, The Ulster medical journal.

Three further cases of t(8;14)(q11.2;q32) in acute lymphoblastic leukemia

M. Humphreys, L. Harewood, C. Harrison, 2001, Leukemia.

Unbalanced jumping translocation involving 3q in myeloproliferative disease

M. Humphreys, P. McGrattan, D. Hull, 2009, Medical oncology.

Integration of conventional cytogenetics, comparative genomic hybridisation and interphase fluorescence in situ hybridisation for the detection of genomic rearrangements in acute leukaemia

M. McMullin, M. Humphreys, S. Campbell, 2008, Journal of Clinical Pathology.

Use of imatinib mesylate in elderly patients in Northern Ireland: evidence of comparable haematological and molecular responses to younger patients

M. McMullin, A. Irvine, M. Humphreys, 2008, Hematology.

Jumping translocation in acute monocytic leukemia (M5b) with alternative breakpoint sites in the long arm of donor chromosome 3

M. Humphreys, P. McGrattan, M. Bowers, 2010, Medical oncology.

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

J. Rosenfeld, J. Barber, J. Graham, 2015, American journal of medical genetics. Part A.

The finding of a reciprocal whole-arm translocation t(X;12)(p10;p10) in association with atypical chronic myeloid leukaemia

M. McMullin, M. Humphreys, P. McGrattan, 2010, Medical oncology.

Outgrowth endothelial cells: characterization and their potential for reversing ischemic retinopathy.

Alan W. Stitt, T. Gardiner, R. Medina, 2010, Investigative ophthalmology & visual science.

Fluorescence in situ hybridisation detection of erbB2 amplification in breast cancer fine needle aspirates.

P. Maxwell, M. Humphreys, N. Anderson, 1999, Molecular pathology : MP.

Coexistence of inversion 16 in chronic myeloid leukaemia in blast crisis

K. Mills, M. McMullin, M. Catherwood, 2016, Journal of Hematopathology.

Cytogenetic investigations in a family with ataxia telangiectasia

M. Humphreys, N. Nevin, M. Wooldridge, 1989, Human Genetics.

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.

Tetrasomy 13 as the sole cytogenetic abnormality in acute myeloid leukemia M1 without maturation.

M. Humphreys, P. Kettle, P. McGrattan, 2002, Cancer genetics and cytogenetics.

Myeloid sarcoma of the small bowel associated with a CBFβ/MYH11 fusion and inv(16)(p13q22): a case report

C. Bueso-Ramos, M. Catherwood, M. Mckenna, 2009, Journal of Clinical Pathology.

De novo direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2

Michael A. Stewart, S. McKee, M. Humphreys, 1998, Clinical genetics.

Chromosomal abnormalities in Ph- cells of patients on imatinib.

N. Russell, J. Byrne, M. McMullin, 2003, Blood.

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.

Growth retardation, developmental delay and dysmorphic features in a girl with a partial duplication of Xq

S. McKee, D. Donnelly, M. Humphreys, 2011, Clinical dysmorphology.

Wolcott‐Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11–12

M. Humphreys, C. Thornton, N. Nevin, 1996, Clinical genetics.

Klinefelter syndrome and non-Hodgkin lymphoma.

C. Morris, M. Humphreys, N. Nevin, 1997, Cancer genetics and cytogenetics.

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.