Publications by authors named "Alan Fryer"

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Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, Alan Fryer

HGG Adv· April 2024

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Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features.
Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, Alan Fryer

medRxiv· September 2023

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The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Alison Foster, Anna Zachariou, Chey Loveday, Tazeen Ashraf, Edward Blair, Alan Fryer

Am J Med Genet C Semin Med Genet· December 2019

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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, Dorine Arjanne Bax, Fiona Blanco-Kelly, Alan Fryer

Hum Genet· September 2019

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Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
James F H Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E Fryer

Orphanet J Rare Dis· May 2019

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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Peter D Turnpenny, Michael J Wright, Melissa Sloman, Richard Caswell, Anthony J van Essen, Alan Fryer

Am J Hum Genet· December 2018

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Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Peter D Turnpenny, Michael J Wright, Melissa Sloman, Richard Caswell, Anthony J van Essen, Alan Fryer

Am J Hum Genet· November 2018

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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
M Felicia Basilicata, Ange-Line Bruel, Giuseppe Semplicio, Claudia Isabelle Keller Valsecchi, Tuğçe Aktaş, Alan Fryer

Nat Genet· October 2018

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Noncoding copy-number variations are associated with congenital limb malformation.
Ricarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, Magdalena Socha, Lila Allou, Alan Fryer

Genet Med· June 2018

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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes , and .
Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, Daniel R Barnes, Lindsey Vialard, Alan Fryer

J Med Genet· June 2018

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Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
James F H Pittaway, Christopher Harrison, Yumie Rhee, Muriel Holder-Espinasse, Alan E Fryer

Orphanet J Rare Dis· April 2018

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Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
Oliver W Quarrell, Angus J Clarke, Cecilia Compton, Christine E M de Die-Smulders, Alan Fryer

Am J Med Genet B Neuropsychiatr Genet· January 2018

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Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Karen L Stals, Matthew Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Alan Fryer

Prenat Diagn· January 2018

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Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Hemant Bengani, Mark Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Alan Fryer

Genet Med· August 2017

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Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Mira Kharbanda, Daniela T Pilz, Susan Tomkins, Kate Chandler, Anand Saggar, Alan Fryer

Eur J Med Genet· February 2017

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A case of 9q21.11q22.1 triplication with novel ophthalmic features.
Neeru A Vallabh, Aram Buchanan, Magda Ainscough, William Newman, Alan Fryer

Clin Dysmorphol· January 2017

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Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Emma M Jenkinson, Mathieu P Rodero, Paul R Kasher, Carolina Uggenti, Anthony Oojageer, Alan E Fryer

Nat Genet· January 2017

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

Am J Med Genet A· November 2016

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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Emma M Jenkinson, Mathieu P Rodero, Paul R Kasher, Carolina Uggenti, Anthony Oojageer, Alan E Fryer

Nat Genet· October 2016

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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Alejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H Al Turki, Alan Fryer

Nat Genet· September 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

Am J Med Genet A· October 2015

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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Ilham Ratbi, Kim D Falkenberg, Manou Sommen, Nada Al-Sheqaih, Soukaina Guaoua, Alan Fryer

Am J Hum Genet· October 2015

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Lot Snijders Blok, Erik Madsen, Jane Juusola, Christian Gilissen, Diana Baralle, Alan Fryer

Am J Hum Genet· August 2015

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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
María Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, Christopher A Tan, Ilaria Parenti, Alan Fryer

Hum Mutat· April 2015

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Warsaw Breakage Syndrome--A further report, emphasising cutaneous findings.
Claire Bailey, Alan E Fryer, Mark Greenslade

Eur J Med Genet· April 2015

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