Publications by authors named "Alex Magee"

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Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Katrina Tatton-Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Alex Magee

Oncotarget· November 2018

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mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.
Holger Hengel, Alex Magee, Muhammad Mahanjah, Jean-Michel Vallat, Robert Ouvrier

Neurol Genet· April 2017

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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Christopher T Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Alex C Magee

Nat Genet· February 2017

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Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
Francesca Mattioli, Elise Schaefer, Alex Magee, Paul Mark, Grazia M Mancini

Am J Hum Genet· January 2017

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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Hannah Sleven, Seth J Welsh, Jing Yu, Mair E A Churchill, Caroline F Wright, Alex Magee

Am J Hum Genet· January 2017

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Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.
Jean-Michel Vallat, Mathilde Nizon, Alex Magee, Bertrand Isidor, Laurent Magy

J Neuropathol Exp Neurol· December 2016

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Clinical and genetic aspects of KBG syndrome.
Karen Low, Tazeen Ashraf, Natalie Canham, Jill Clayton-Smith, Charu Deshpande, Alex Magee

Am J Med Genet A· November 2016

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Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.
Jillian Casey, Allan Jenkinson, Alex Magee, Sean Ennis, Ahmad Monavari

Clin Dysmorphol· October 2016

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A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.
Gea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, Jenny Morton, Katrien Smets, Alex C Magee

J Med Genet· August 2016

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De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
Michael J Parker, Alan E Fryer, Deborah J Shears, Katherine L Lachlan, Shane A McKee, Alex C Magee

Am J Med Genet A· October 2015

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Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
David Hunt, Richard J Leventer, Cas Simons, Ryan Taft, Kathryn J Swoboda, Alex C Magee

J Med Genet· December 2014

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Morad Ansari, Gemma Poke, Quentin Ferry, Kathleen Williamson, Roland Aldridge, Alex C Magee

J Med Genet· October 2014

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Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Katrina Tatton-Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Alex Magee

Am J Med Genet A· December 2013

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Streamlining the use of IHC in identifying germline mismatch repair mutations in Lynch syndrome.
Gillian Rea, Alex Magee, Maurice B Loughrey

Ulster Med J· May 2012

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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.
Siddharth Banka, Ratna Veeramachaneni, William Reardon, Emma Howard, Sancha Bunstone, Alex Magee

Eur J Hum Genet· April 2012

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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Jeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, Barbera D C van Schaik, Eve Seuntjens, Alex Magee

Nat Genet· February 2012

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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Katrina Tatton-Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Alex Magee

Oncotarget· December 2011

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Nicolaides-Baraitser syndrome: Delineation of the phenotype.
Sérgio B Sousa, Omar A Abdul-Rahman, Armand Bottani, Valérie Cormier-Daire, Alan Fryer, Alex Magee

Am J Med Genet A· August 2009

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Down syndrome, achondroplasia and tetralogy of Fallot.
Tabib Dabir, Brian A McCrossan, Louise Sweeney, Alex Magee, Andrew J Sands

Neonatology· August 2008

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Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
Marjolijn C J Jongmans, Lies H Hoefsloot, Kim P van der Donk, Ronald J Admiraal, Alex Magee

Am J Med Genet A· January 2008

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Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
Tjitske Kleefstra, Han G Brunner, Jeanne Amiel, Astrid R Oudakker, Willy M Nillesen, Alex Magee

Am J Hum Genet· August 2006

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Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.
Kathleen A Williamson, Ann M Hever, Joe Rainger, R Curtis Rogers, Alex Magee

Hum Mol Genet· May 2006

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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Enza Maria Valente, Francesco Brancati, Jennifer L Silhavy, Marco Castori, Sarah E Marsh, Alex Magee

Ann Neurol· March 2006

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