A. Magee

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Large-scale discovery of novel genetic causes of developmental disorders

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

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

J. Schuurs-Hoeijmakers, B. Ceulemans, T. Kleefstra, 2016, Journal of Medical Genetics.

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

Alex Magee, Erik A Sistermans, Jean-Pierre Fryns, 2006, American journal of human genetics.

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.

Ullrich-Turner syndrome: seven pregnancies in an apparent 45,X woman.

M. Armstrong, A. Magee, N. Nevin, 1998, American journal of medical genetics.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

S. Seal, N. Rahman, I. Temple, 2013, American journal of medical genetics. Part A.

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

J. Mandel, G. Mancini, M. V. van Slegtenhorst, 2017, American journal of human genetics.

The Epidemiology of Myotonic Dystrophy in Northern Ireland

A. Magee, N. Nevin, 2000, Public Health Genomics.

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region

B. Cogné, S. Zuchner, L. Richard, 2016, Journal of neuropathology and experimental neurology.

AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders

E. Bertini, F. Brancati, E. Valente, 2006, Annals of neurology.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American Journal of Medical Genetics. Part A.

Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.

R. Hennekam, J. Clayton-Smith, H. Brunner, 1997, Clinical dysmorphology.

Down Syndrome, Achondroplasia and Tetralogy of Fallot

B. McCrossan, A. Sands, T. Dabir, 2008, Neonatology.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2018 .

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

W. Reardon, D. Cooper, Y. Crow, 2005, Journal of Medical Genetics.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Diana Baralle, David Hunt, Peter D Turnpenny, 2014, Journal of Medical Genetics.

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.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2011, Oncotarget.

Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region.

J Ragoussis, J. Ragoussis, M. Dixon, 1995, Human molecular genetics.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

D. Fitzpatrick, R. C. Rogers, P. Turnpenny, 2006, Human molecular genetics.

Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability

H. Brunner, L. Hoefsloot, A. Magee, 2008, American journal of medical genetics. Part A.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Alex Henderson, Jing Yu, Alex Magee, 2017, American journal of human genetics.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Soo-Mi Park, K. Lachlan, D. Fitzpatrick, 2015, American journal of medical genetics. Part A.

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.

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

R Pfundt, R. Pfundt, N. de Leeuw, 2008, Journal of Medical Genetics.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Asif Javed, Shifeng Xue, H. Kayserili, 2017, Nature Genetics.

, patients in both classical and atypical Rett syndrome gene are foundMECP 2 Gross rearrangements

W. Reardon, D. Cooper, Y. Crow, 2006 .

, in both classical and atypical Rett Syndrome Gross rearrangements of the MECP 2 gene are found

W. Reardon, D. Cooper, Y. Crow, 2005 .

Segregation distortion in myotonic dystrophy.

A. Hughes, A. Magee, 1998, Journal of medical genetics.

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.

Chorionic villus sampling for Down's syndrome

M. Armstrong, A. Magee, N. Nevin, 1991, The Lancet.

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

S. Züchner, P. Bauer, R. Schüle, 2017, Neurology: Genetics.

Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome.

A. Magee, N. Nevin, P. S. Thomas, 1994, Pediatric pathology.

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.

RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

T. Sanger, E. Bertini, M. Koenig, 2008, Clinical genetics.

Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene

X. Estivill, K. Klinger, B. Kerem, 1992, Human Genetics.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American journal of medical genetics. Part A.

Confidential inquiry into families with two siblings with cystic fibrosis

P. Morrison, A. Magee, N. Nevin, 1998, Archives of disease in childhood.