Publications by authors named "Emma Hobson"

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Mathieu Levesque, Pranisha Jayasinghe, Emma Hobson

Nat Commun· November 2025

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Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.
Claire E Green, Shadi Albaba, Glenda J Sobey, Jessica M Bowen, Deirdre E Donnelly, Emma Hobson

Eur J Hum Genet· October 2025

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Germline variants in are associated with multilocus imprinting disturbance in humans and mice.
Eguzkine Ochoa, Ilona Zvetkova, Sunwoo Liv Lee, Nozomi Takahashi, Benoit Lan-Leung, Emma Hobson

Proc Natl Acad Sci U S A· August 2025

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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae-Ik Choi, Emma Hobson

Am J Hum Genet· March 2024

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A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes.
Erica L Harris, Vincent Roy, Martin Montagne, Ailsa M S Rose, Helen Livesey, Emma Hobson

Am J Hum Genet· January 2024

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
David Picketts, Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Emma Hobson

Res Sq· September 2023

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Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.
Katherine A Wood, Jamie M Ellingford, Huw B Thomas, , Sofia Douzgou, Emma Hobson

Clin Genet· February 2022

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Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Oliver Murch, Vani Jain, Andreas Benneche, Kay Metcalfe, Emma Hobson

Eur J Hum Genet· January 2022

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Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant.
Rebecca L Poole, Philippa D K Curry, Ruta Marcinkute, Carole Brewer, David Coman, Emma Hobson

Am J Med Genet A· August 2021

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Novel loss-of-function mutation in is associated with severe developmental delay and paediatric lethality.
Marilena Elpidorou, Sunayna Best, James A Poulter, Verity Hartill, Emma Hobson

J Med Genet· May 2021

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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E Babcock, Emma Hobson

Genet Med· April 2021

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Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.
Schaida Schirwani, Anna Sarkozy, Rahul Phadke, Anne-Marie Childs, Rachael Mein, Emma Hobson

Neuromuscul Disord· April 2021

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Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E Babcock, Emma Hobson

Genet Med· April 2021

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Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.
Meena Balasubramanian, Emma Hobson, Mars Skae, Janine McCaughey, David J Stephens

Mol Genet Genomic Med· December 2019

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Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.
Schaida Schirwani, Antonio Novelli, Maria Cristina Digilio, David Bourn, Valerie Wilson, Emma Hobson

Eur J Med Genet· April 2019

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Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Ruth Cleaver, Jonathan Berg, Emily Craft, Alison Foster, Richard J Gibbons, Emma Hobson

Am J Med Genet A· March 2019

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Heterozygous mutations affecting the protein kinase domain of cause a syndromic form of developmental delay and intellectual disability.
Mark J Hamilton, Richard C Caswell, Natalie Canham, Trevor Cole, Helen V Firth, Emma Hobson

J Med Genet· January 2018

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Detection of structural mosaicism from targeted and whole-genome sequencing data.
Daniel A King, Alejandro Sifrim, Tomas W Fitzgerald, Raheleh Rahbari, Emma Hobson

Genome Res· October 2017

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3q27.3 Microdeletion syndrome: further delineation of the second region of overlap and atopic dermatitis as a phenotypic feature.
Rosalyn Jewell, Bennett Eng, Andrea Coates, Sarah Hewitt, Emma Hobson

Clin Dysmorphol· July 2017

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Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.
John J Reynolds, Louise S Bicknell, Paula Carroll, Martin R Higgs, Ranad Shaheen, Emma Hobson

Nat Genet· April 2017

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Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Rebecca C Pollitt, Vrinda Saraff, Ann Dalton, Emma A Webb, Nick J Shaw, Emma Hobson

Am J Med Genet A· December 2016

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Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
Mark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, Shu Yau, Suzanne Lillis, Emma Hobson

Clin Dysmorphol· 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, Emma Hobson

Nat Genet· September 2016

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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Margot R F Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan Jolly, Grazia M Mancini, Emma Hobson

Am J Hum Genet· February 2016

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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nadia Akawi, Jeremy McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Emma Hobson

Nat Genet· November 2015

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