Chandler Kate - Manchester University Hospitals NHS Foundation Trust, University of Manchester

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论文共 155 篇作者统计合作学者相似作者

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Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion

Anna Hau,Anne Baxter,Kate Chandler,Andrew Fennell,Tzung-Chien Hsieh,Peter M. Krawitz,Jason Pinner, Himanshu Goel

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2024)

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Large-scale Evaluation of Outcomes Following a Genetic Diagnosis in Children with Severe Developmental Disorders

Harriet Copeland,Karen J Low,Sarah Wynn, Ayesha Ahmed, Victoria Arthur,Meena Balasubramanian, Katya Bennett,Jonathan Berg,Marta Bertoli,Lisa Bryson, Catrin Bucknall,Jamie Campbell,Kate Chandler,Jaynee Chauhan, Amy Clarkson, Rachel Coles, Hector Conti,Philandra Costello, Tessa Coupar, Amy Craig,John Dean, Amy Dillon,Abhijit Dixit, Kathryn Drew,Jacqueline Eason,Francesca Forzano,Nicky Foulds,Alice Gardham,Neeti Ghali,Andrew Green, William Hanna,Rachel Harrison, Mairead Hegarty,Jenny Higgs,Muriel Holder,Rachel Irving,Vani Jain,Katie Johnson, Rachel Jolley,Wendy Jones,Gabriela Jones,Shelagh Joss, Ruta Kalinauskiene, Farah Kanini,Karl Kavanagh, Mahmudur Khan,Naz Khan,Emma Kivuva,Nayana Lahiri, Neeta Lakhani,Anne Lampe,Sally Ann Lynch,Sahar Mansour, Alice Marsden, Hannah Massey,Shane McKee,Shehla Mohammed,Swati Naik, Mithushanaa Nesarajah,Ruth Newbury-Ecob, Fiona Osborne,Michael J Parker,Jenny Patterson,Caroline Pottinger,Matina Prapa,Katrina Prescott, Shauna Quinn,Jessica A Radley,Sarah Robart,Alison Ross,Giulia Rosti,Francis Sansbury,Ajoy Sarkar,Claire Searle,Nora Shannon,Debbie Shears,Sarah Smithson,Helen Stewart,Mohnish Suri,Shereen Tadros, Rachel Theobald, Rhian Thomas, Olga Tsoulaki,Pradeep Vasudevan, Maribel Verdesoto,Emma Vittery, Sinead Whyte,Emily Woods,Thomas Wright,David Zocche,Helen V Firth,Caroline F Wright,the DDD Study

Genetics in Medicine Open (2024)

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Bi-allelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects

Adam Jackson,Celia Moss,Kate Chandler,Pablo Lopez Balboa,Maria L. Bageta,Gabriela Petrof, Anne Martinez, Liu Lu,Alyson Guy,Jemima Mellerio,John Lee,Malobi Ogboli,Gavin Ryan,John A. McGrath,Siddharth Banka

Br J Dermatol（2024）

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CHD8 Missense Variants Cause a Variable Neurodevelopmental Disorder with Incomplete Penetrance

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 721-721

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Clinical and functional consequences of GRIA variants in patients with neurological diseases

Cellular and molecular life sciences : CMLSno. 11 (2023): 345-345

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Human pluripotent stem cell model of multiple epiphyseal dysplasia with MATN3 mutation identifies upregulation of the cholesterol biosynthesis pathway

Steven Woods,Nicola Bates,Stuart Cain,Paul Humphreys,Fabrizio Mancini,Antony Adamson,Peter Harley,Ian Donaldson,Geert Mortier,Kate Chandler,Clair Baldock,Jean-Marc Schwartz,Susan J. Kimber

INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGYno. 2 (2023): A6-A6

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Lunapark Deficiency Leads to an Autosomal Recessive Neurodevelopmental Phenotype with a Degenerative Course, Epilepsy and Distinct Brain Anomalies

Brain Communicationsno. 5 (2023)

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BiallelicTUFT1variants cause woolly hair, superficial skin fragility and desmosomal defects

Adam Jackson,Celia Moss,Kate E Chandler,Pablo Lopez Balboa,Maria L Bageta,Gabriela Petrof,Anna E Martinez, Lu Liu,Alyson Guy,Jemima E Mellerio,John Y W Lee,Malobi Ogboli,Gavin Ryan,John A McGrath,Siddharth Banka,

British Journal of Dermatology（2022）

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SOX11 Variants Cause a Neurodevelopmental Disorder with Infrequent Ocular Malformations and Hypogonadotropic Hypogonadism and with Distinct DNA Methylation Profile

Reem Al-Jawahiri,Aidin Foroutan,Jennifer Kerkhof,Haley McConkey,Michael Levy,Sadegheh Haghshenas,Kathleen Rooney,Jasmin Turner,Debbie Shears,Muriel Holder,Henrietta Lefroy,Bruce Castle,Linda M. Reis,V. Elena Semina,Katherine Lachlan,Kate Chandler,Thomas Wright,Jill Clayton-Smith, Franziska Phan Hug,Nelly Pitteloud,Lucia Bartoloni,Sabine Hoffjan,Soo-Mi Park,Ajay Thankamony,Melissa Lees,Emma Wakeling,Swati Naik,Britta Hanker,Katta M. Girisha,Emanuele Agolini,Zampino Giuseppe,Ziegler Alban,Marine Tessarech,Ziegler Boris Keren,Alexandra Afenjar,Christiane Zweier,Andre Reis,Thomas Smol,Yoshinori Tsurusaki,Okamoto Nobuhiko,Futoshi Sekiguchi,Naomi Tsuchida,Naomichi Matsumoto,Ikuyo Kou,Yoshiro Yonezawa,Shiro Ikegawa,Bert Callewaert,Megan Freeth,Lotte Kleinendorst,Alan Donaldson,Marielle Alders,Anne De Paepe,Bekim Sadikovic,Alisdair McNeill

Genetics in medicine（2022）

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