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All papers authored by Andrew Fry

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2021 Charlotte Lippe, Charlotte von der Lippe

ORCID

, Kristian Tveten, Trine E. Prescott, Øystein L. Holla, Øyvind L. Busk, Katherine B. Burke, Francis H. Sansbury, Júlia Baptista

ORCID

, Andrew E. Fry

ORCID

, Derek Lim, Stephen Jolles

ORCID

, Jennifer Evans, Deborah Osio, Carol Macmillan and 17 other authors

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

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Víctor Faundes

ORCID

, Martin D. Jennings

ORCID

, Siobhan Crilly

ORCID

, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry

ORCID

, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman

ORCID

, Patricia Newkirk, Judith Ranells and 9 other authors

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

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Vassilis Ragoussis, Jenny C. Taylor and

ORCID

, Pagnamenta At, Alistair T. Pagnamenta, Rebecca L. Haines, Haines Rl, Edoardo Giacopuzzi, McClatchey Ma, Martin A. McClatchey, Sampson Jr, Julian R. Sampson, Mohnish Suri, Alice Gardham, Cobben Jm, Deborah Osio and 4 other authors

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation.

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Meena Balasubramanian, Alexander J. M. Dingemans, Shadi Albaba, Ruth Richardson, Thabo M. Yates

ORCID

, Helen Cox, Sofia Douzgou, Ruth Armstrong, Francis H. Sansbury

ORCID

, Katherine B. Burke, Andrew E. Fry

ORCID

, Nicola Ragge, Saba Sharif, Alison Foster, Annachiara De Sandre-Giovannoli and 24 other authors

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

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2020 Andrew E. Fry

ORCID

, Christopher Marra, Anna V. Derrick, William O. Pickrell, Adam T. Higgins, Johann te Water Naude, Martin A. McClatchey, Sally J. Davies, Kay A. Metcalfe, Hui Jeen Tan, Rajiv Mohanraj, Shivaram Avula, Denise Williams, Lauren I. Brady, Ronit Mesterman and 7 other authors

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy

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Renske Oegema

ORCID

, Tahsin Stefan Barakat

ORCID

, Martina Wilke, Katrien Stouffs

ORCID

ORCID

, Eleonora Aronica, Nadia Bahi-Buisson, Valerio Conti

ORCID

, Andrew E. Fry

ORCID

, Tobias Geis, David Gomez Andres

ORCID

, Elena Parrini

ORCID

, Ivana Pogledic

ORCID

, Edith Said, Doriette Soler and 12 other authors

International consensus recommendations on the diagnostic work-up for malformations of cortical development

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Tariq Zaman, Katherine L. Helbig

ORCID

, Jérôme Clatot, Christopher H. Thompson, Seok Kyu Kang, Katrien Stouffs, Anna E. Jansen, Lieve Verstraete, Adeline Jacquinet, Elena Parrini, Renzo Guerrini, Yuh Fujiwara, Satoko Miyatake, Bruria Ben‐Zeev, Haim Bassan and 21 other authors

SCN3A ‐related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

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Martin A. McClatchey, Zachary D. du Toit, Rhys Vaughan, Sharon D. Whatley, Sara Martins, Shivaram Hegde, Johann te Water Naude, David H. Thomas, David F. Griffiths, Genomics England Research Consortium, Genomics England Research Consortium, Angus J. Clarke, Andrew E. Fry

ORCID

Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation

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Anna Durkin

ORCID

, Shadi Albaba, Andrew E. Fry

ORCID

, Jenny E. Morton, Andrew Douglas, Ana Beleza, Denise Williams, Catharina M. L. Volker‐Touw, Sally A. Lynch, Natalie Canham, Virginia Clowes, Volker Straub, Katherine Lachlan, Frances Gibbon, Mayy El Gamal and 7 other authors

Clinical findings of 21 previously unreported probands with HNRNPU ‐related syndrome and comprehensive literature review

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Line Aagaard Nolting

ORCID

, Joss Shelagh, Line Nolting, Charlotte Brasch‐Andersen, Helen Cox, Farah Kanani, Michael Parker, Andrew E. Fry

ORCID

, Sara Loddo, Antonio Novelli, Maria Lisa Dentici

ORCID

, Joan P. Jørgensen, Christina R. Fagerberg

ORCID

A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

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Thabo M. Yates

ORCID

, Morgan Drucker, Angela Barnicoat, Karen Low, Erica H. Gerkes, Andrew E. Fry

ORCID

, Michael J. Parker, Mary O'Driscoll, Perrine Charles, Helen Cox, Isabelle Marey, Boris Keren, Tuula Rinne, Meriel McEntagart, Vijaya Ramachandran and 7 other authors

ZMYND11 ‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

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2019 Laura V. Vandervore, Rachel Schot, Chiara Milanese, Daphne J. Smits, Esmee Kasteleijn, Marjon van Slegtenhorst, Andrew E. Fry

ORCID

, Daniela T. Pilz, Stefanie Brock, Linda S. de Vries, Esra Börklü-Yücel, Marco Post, Nadia Bahi-Buisson, María José Sánchez-Soler, Faisal Zafar and 34 other authors

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

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Andrea Angius

ORCID

, Paolo Uva, Manuela Oppo, Insa Buers, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Margot I. Van Allen, Gurdip Hulait, Gudrun Aubertin, Francesco Muntoni, Andrew E. Fry

ORCID

, Göran Annerén, Eva‐Lena Stattin, María Palomares‐Bralo

ORCID

and 5 other authors

Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses

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2018 Peter D. Turnpenny, Michael J. Wright, Melissa Sloman, Anthony J. van Essen, Erica Gerkes, Rolph Pfundt, Susan M. White, Nava Shaul-Lotan, G. Bradley Schaefer, Alan Fryer, A. Micheil Innes, Heather McLaughlin, Lindsay B. Henderson, Amy E. Roberts, Karen E. Heath and 10 other authors

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

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Jennifer Gardner, Thomas Cushion, Georgios Niotakis, Heather Olson, P. Grant, Richard Scott, Neil Stoodley, Julie Cohen, Sakkubai Naidu, Tania Attie-Bitach, Maryse Bonnières, Lucile Boutaud, Férechté Encha-Razavi, Sheila Palmer-Smith, Hood Mugalaasi and 3 other authors

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

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Kenneth A. Myers, Susan M. White, Shehla Mohammed, Kay A. Metcalfe, Andrew E. Fry

ORCID

, Elisabeth Wraige, Pradeep C. Vasudevan, Meena Balasubramanian, Ingrid E. Scheffer

Corrigendum to “Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome” [Epilepsy Res. 140 (2018) 166–170]

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Romina Romaniello, Filippo Arrigoni

ORCID

, Andrew E. Fry

ORCID

, Maria T. Bassi, Mark I. Rees, Renato Borgatti, Daniela T. Pilz, Thomas D. Cushion

Tubulin genes and malformations of cortical development

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Kenneth A. Myers, Susan M. White, Shehla Mohammed, Kay A. Metcalfe, Andrew E. Fry

ORCID

, Elisabeth Wraige, Pradeep C. Vasudevan, Meena Balasubramanian, Ingrid E. Scheffer

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome

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Andrew E. Fry

ORCID

, Katherine A. Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A. N. Thompson, Lilach Shemer-Meiri, Thomas D. Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo-Kyung Chung, Mark I. Rees, Chirag V. Patel, Louise A. Brueton, Valérie Layet and 26 other authors

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

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2017 Karen L. Stals

ORCID

, Matthew Wakeling, Júlia Baptista

ORCID

, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C. Gunning, Hana Lango Allen, Lisa Bradley, Angela F. Brady, Helena Carley, Jenny Carmichael, Bruce Castle and 26 other authors

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing

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