Anne K. Lampe - Mol Med Ctr, South East Scotland Clin Genet Serv

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论文共 21 篇作者统计合作学者相似作者

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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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Should Scotland Provide Genome-Wide Sequencing for the Diagnosis of Rare Developmental Disorders? A Cost-Effectiveness Analysis

Michael Abbott,Mandy Ryan,Rodolfo Hernández,Lynda McKenzie,Sebastian Heidenreich,Lynne Hocking,Caroline Clark,Morad Ansari,David Moore,Anne Lampe,Ruth McGowan,Jonathan Berg,Zosia Miedzybrodzka

EUROPEAN JOURNAL OF HEALTH ECONOMICS (2024)

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Regulatory De Novo Mutations Underlying Intellectual Disability

Matias G. De Vas,Fanny Boulet, Shweta S. Joshi,Myles G. Garstang,Tahir N. Khan,Goutham Atla,David Parry,David Moore,Ines Cebola,Shuchen Zhang,Wei Cui,Anne K. Lampe,Wayne W. Lam,Jorge Ferrer,Madapura M. Pradeepa,Santosh S. Atanur

Life Science Alliance（2023）

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SOX5: Lamb-Shaffer Syndrome-a Case Series Further Expanding the Phenotypic Spectrum

Katharine Edgerley,Lisa Bryson, Lucy Hanington,Rachel Irving,Shelagh Joss,Anne Lampe,Isabelle Maystadt,Deborah Osio,Ruth Richardson, Miranda Split,Francis H. Sansbury,Ingrid Scurr,Helen Stewart, Alisdair McNeil,Karen Low

American journal of medical genetics Part Ano. 5 (2023): 1447-1458

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Expanding the Neurodevelopmental Phenotype Associated with HK1 De Novo Heterozygous Missense Variants

Rebecca L. Poole,Mihaly Badonyi,Alison Cozens,Nicola Foulds,Joseph A. Marsh,Shamima Rahman,Alison Ross, Joanna Schooley,Volker Straub,Alan J. Quigley,David FitzPatrick,Anne Lampe

European journal of medical genetics（2023）

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Genome Sequencing with Gene Panel-Based Analysis for Rare Inherited Conditions in a Publicly Funded Healthcare System: Implications for Future Testing

Lynne J. Hocking, Claire Andrews, Christine Armstrong,Morad Ansari,David Baty,Jonathan Berg,Therese Bradley,Caroline Clark,Austin Diamond, Jill Doherty,Anne Lampe,Ruth McGowan,David J. Moore, Dawn O’Sullivan, Andrew Purvis,Javier Santoyo-Lopez,Paul Westwood,Michael Abbott,Nicola Williams,Timothy J. Aitman,Zosia Miedzybrodzka

European journal of human genetics（2022）

引用3浏览0WOSNATURE引用

Exome Sequencing Efficacy and Phenotypic Expansions Involving Esophageal Atresia/tracheoesophageal Fistula Plus

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2022）

引用2浏览0WOS引用

Regulatoryde Novomutations Underlying Intellectual Disability

Matias G De Vas,Fanny Boulet, Shweta S Joshi,Myles G Garstang,Tahir N. Khan,Goutham Atla,David Parry,David Moore,Inês Cebola, Shuchen Zhang,Wei Cui,Anne K Lampe,Wayne W Lam, Jorge Ferrer,Madapura M Pradeepa,Santosh S Atanur

crossref（2022）

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BBS1 Branchpoint Variant is Associated with Non-Syndromic Retinitis Pigmentosa

Zeinab Fadaie,Laura Whelan,Adrian Dockery,Catherina H. Z. Li, L. Ingeborgh van der Born,Carel B. Hoyng,Christian Gilissen,Jordi Corominas,Charlie Rowlands,Roly Megaw,Anne K. Lampe,Frans P. M. Cremers,Gwyneth Jane Farrar,Jamie M. Ellingford,Paul F. Kenna,Susanne Roosing

JOURNAL OF MEDICAL GENETICS（2022）

引用14浏览0WOS引用

Continuing the Sequence? Towards an Economic Evaluation of Whole Genome Sequencing for the Diagnosis of Rare Diseases in Scotland

Abbott Michael,McKenzie Lynda,Moran Blanca Viridiana Guizar,Heidenreich Sebastian,Hernández Rodolfo,Hocking-Mennie Lynne,Clark Caroline, Gomes Joana,Lampe Anne,Baty David,McGowan Ruth,Miedzybrodzka Zosia,Ryan Mandy

Journal of Community Genetics（2021）

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