Pagnamenta Alistair T - National Institute for Health Research Oxford Biomedical Research Centre, University of Oxford

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Improving the Genetic Characterization in a Cohort of HSP Patients Recruited to the 100'000 Genomes Project by Combing Whole Genome Sequencing and Novel Bioinformatic Tools

Delia Gagliardi, Chris Clarkson, Ainara Salazar Villacorta,Alistair Pagnamenta,Jing Yu,Henry Houlden,Arianna Tucci

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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RTN2 Deficiency Results in an Autosomal Recessive Distal Motor Neuropathy with Lower Limb Spasticity

Reza Maroofian,Payam Sarraf,Thomas J. O'Brien,Mona Kamel,Arman Cakar,Nour Elkhateeb,Tracy Lau,Siddaramappa Jagdish Patil,Christopher J. Record,Alejandro Horga, Miriam Essid,Laila Selim,

BRAINno. 7 (2024): 2334-2343

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Biallelic NUDT2 Variants Defective in Mrna Decapping Cause a Neurodevelopmental Disease

Ralf A. Husain,Xinfu Jiao,J. Christopher Hennings, Jan Giesecke,Geeta Palsule,Stefanie Beck-Woedl, Dina Osmanovic,Kathrine Bjorgo,Asif Mir,Muhammad Ilyas, Saad M. Abbasi,Stephanie Efthymiou,

BRAIN（2024）

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Biallelic NAA60 Variants with Impaired N-terminal Acetylation Capacity Cause Autosomal Recessive Primary Familial Brain Calcifications

Viorica Chelban,Henriette Aksnes,Reza Maroofian,Lauren C. LaMonica,Luis Seabra, Anette Siggervåg,Perrine Devic,Hanan E. Shamseldin,Jana Vandrovcova,David Murphy,Anne-Claire Richard,Olivier Quenez,

NATURE COMMUNICATIONSno. 1 (2024)

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The Impact of Inversions Across 33,924 Families with Rare Disease from a National Genome Sequencing Project

Alistair T. Pagnamenta,Jing Yu,Susan Walker,Alexandra J. Noble,Jenny Lord, Prasun Dutta,Mona Hashim,Carme Camps, Hannah Green, Smrithi Devaiah,Lina Nashef, Jason Parr,

AMERICAN JOURNAL OF HUMAN GENETICSno. 6 (2024): 1140-1164

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Bi-allelic Genetic Variants in the Translational GTPases GTPBP1 and GTPBP2 Cause a Distinct Identical Neurodevelopmental Syndrome

Vincenzo Salpietro,Reza Maroofian,Maha S. Zaki,Jamie Wangen,Andrea Ciolfi,Sabina Barresi,Stephanie Efthymiou,Angelique Lamaze,Gabriel N. Aughey,Fuad Al Mutairi,Aboulfazl Rad,Clarissa Rocca,

AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2024)

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Clinical and Neurogenetic Characterisation of Autosomal Recessive RBL2-associated Progressive Neurodevelopmental Disorder

Gabriel Aughey,Elisa Cali,Reza Maroofian,Maha S Zaki,Alistair T Pagnamenta,Fatima Rahman,Lara Menzies,Anum Shafique,Mohnish Suri,Emmanuel Roze, Mohammed Aguennouz,Zouiri Ghizlane,

medRxiv the preprint server for health sciences (2024)

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A Syndromic Neurodevelopmental Disorder Caused by Rare Variants in PPFIA3 (vol 111, Pg 96, 2024)

Maimuna S. Paul,Sydney L. Michener,Hongling Pan, Hiuling Chan,Jessica M. Pfliger,Jill A. Rosenfeld,Vanesa C. Lerma,Alyssa Tran,Megan A. Longley,Richard A. Lewis,Monika Weisz-Hubshman,Mir Reza Bekheirnia,

AMERICAN JOURNAL OF HUMAN GENETICSno. 6 (2024): 1239-1239

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Variants Leading to Impaired N-terminal Acetylation Capacity: a New Cause of Autosomal Recessive Primary Familial Brain Calcifications

Viorica Chelban,Henriette Aksnes,Reza Maroofian,Lauren LaMonica,Luis Seabra,Rita Horvath,Nicholas Wood,Jana Vandrovcova,Andreas Ernst,Alistair Pagnamenta,Yanick Crow,Gael Nicolas,

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 30-30

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Ide copy number variant does not influence lesion size and mortality in two C57BL/6J mouse models of cerebrovascular ischemia nor in human cerebrovascular disease. An exploratory study

Marco Foddis,Sonja Blumenau,Susanne Mueller,Clemens Messerschmidt,Clarissa Rocca,Alistair T Pagnamenta,Katarzyna Winek,Matthias Endres,Andreas Meisel,Arianna Tucci,Jose Bras,Rita Guerreiro,

crossref（2024）

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