Alistair T Pagnamenta (Alistair Pagnamenta)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 32

Top Venues

Nature communications

Brain : a journal of neurology

Journal of medical genetics

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Reza Maroofian, Payam Sarraf, Thomas J O'Brien, Mona Kamel, Arman Çakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, Henry Houlden
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain : a journal of neurology 147 (7) (2024)
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, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
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, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Reza Maroofian, Payam Sarraf, Thomas J O'Brien, Mona Kamel, Arman Çakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, Henry Houlden
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain : a journal of neurology (2024)
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, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
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, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
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, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
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, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Reza Maroofian, Payam Sarraf, Thomas J O'Brien, Mona Kamel, Arman Çakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, Henry Houlden
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain : a journal of neurology 147 (7) (2024)
Reza Maroofian, Payam Sarraf, Thomas J O'Brien, Mona Kamel, Arman Çakar, Nour Elkhateeb, Tracy Lau, Siddaramappa Jagdish Patil, Christopher J Record, Alejandro Horga, Miriam Essid, Laila Selim, Hanene Benrhouma, Thouraya Ben Younes, Giovanni Zifarelli, Alistair T Pagnamenta, Peter Bauer, Mukhran Khundadze, Andrea Mirecki, Sara Mahmoud Kamel, Mohamed A Elmonem, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Amaka C Offiah, Alexander M Rossor, Ilhem Ben Youssef-Turki, Christian A Hübner, Pinki Munot, Mary M Reilly, André E X Brown, Sara Nagy, Henry Houlden
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain : a journal of neurology 147 (7) (2024)
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M Reis, Elena V Semina, Miriam S Reuter, Stephen W Scherer, Maria Iascone, Denisa Weis, Christina R Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B Haack, Despoina C Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M Krawitz, Johannes R Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. European journal of human genetics : EJHG (2023)
Alistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, Ingrid M Wentzensen, Maria J Guillen Sacoto, Francis Jeshira Reynoso Santos, Alesky Caffo, Matteo Ferla, Benito Banos-Pinero, Karolina Pawliczak, Mina Makvand, Hossein Najmabadi, null null, Reza Maroofian, Tracy Lester, Ana Lucia Yanez-Felix, Camilo E Villarroel-Cortes, Fan Xia, Khowla Al Fayez, Amal Al Hashem, Deborah Shears, Melita Irving, Amaka C Offiah, Ariana Kariminejad, Jenny C Taylor
The prevalence and phenotypic range associated with biallelic PKDCC variants. Clinical genetics (2023)
Amy Rachel Moore, Jing Yu, Yang Pei, Emily W Y Cheng, Ana Lisa Taylor Tavares, Woolf T Walker, N Simon Thomas, Arveen Kamath, Rita Ibitoye, Dragana Josifova, Anna Wilsdon, Alison Ross, Alistair D Calder, Amaka C Offiah, Andrew O M Wilkie, null null, Jenny C Taylor, Alistair T Pagnamenta
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project. Journal of medical genetics (2023)
Alistair T Pagnamenta, Rebecca S Belles, Bonnie Anne Salbert, Ingrid M Wentzensen, Maria J Guillen Sacoto, Francis Jeshira Reynoso Santos, Alesky Caffo, Matteo Ferla, Benito Banos-Pinero, Karolina Pawliczak, Mina Makvand, Hossein Najmabadi, null null, Reza Maroofian, Tracy Lester, Ana Lucia Yanez-Felix, Camilo E Villarroel-Cortes, Fan Xia, Khowla Al Fayez, Amal Al Hashem, Deborah Shears, Melita Irving, Amaka C Offiah, Ariana Kariminejad, Jenny C Taylor
The prevalence and phenotypic range associated with biallelic PKDCC variants. Clinical genetics (2023)
Andrea Accogli, Maha S Zaki, Mohammed Al-Owain, Mansour Y Otaif, Adam Jackson, Emanuela Argilli, Kate E Chandler, Christian G E L De Goede, Tülün Cora, Javeria Raza Alvi, Atieh Eslahi, Mahsa Sadat Asl Mohajeri, Setareh Ashtiani, P Y Billie Au, Alicia Scocchia, Kirsi Alakurtti, Alistair T Pagnamenta, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Majid Mojarrad, Fatemeh Arab, Fahrettin Duymuş, Morris H Scantlebury, Gözde Yeşil, Jill Anne Rosenfeld, Ayberk Türkyılmaz, Safiye Güneş Sağer, Tipu Sultan, Farah Ashrafzadeh, Tatheer Zahra, Fatima Rahman, Shazia Maqbool, Mohamed S Abdel-Hamid, Mahmoud Y Issa, Stephanie Efthymiou, Peter Bauer, Giovanni Zifarelli, Vincenzo Salpietro, Zuhair Al-Hassnan, Siddharth Banka, Elliot H Sherr, Joseph G Gleeson, Pasquale Striano, Henry Houlden, Mariasavina Severino, Reza Maroofian
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies. Brain communications 5 (5) (2023)
Alistair T Pagnamenta, Jing Yu, Julie Evans, Philip Twiss, null null, null null, Amaka C Offiah, Mohamed Wafik, Sarju G Mehta, Mohammed K Javaid, Sarah F Smithson, Jenny C Taylor
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1 . Journal of medical genetics (2022)
Ioanna A Rota, Adam E Handel, Stefano Maio, Fabian Klein, Fatima Dhalla, Mary E Deadman, Stanley Cheuk, Joseph A Newman, Yale S Michaels, Saulius Zuklys, Nicolas Prevot, Philip Hublitz, Philip D Charles, Athina Soragia Gkazi, Eleni Adamopoulou, Waseem Qasim, Edward Graham Davies, Imelda Hanson, Alistair T Pagnamenta, Carme Camps, Helene M Dreau, Andrea White, Kieran D James, Roman Fischer, Opher Gileadi, Jenny C Taylor, Tudor A Fulga, B Christoffer Lagerholm, Graham Anderson, Erdinc Sezgin, Georg A Hollander
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency. Science advances 7 (49) (2021)
Alistair T Pagnamenta, Wei Wei, Shamima Rahman, Patrick F Chinnery
Biparental inheritance of mitochondrial DNA revisited. Nature reviews. Genetics 22 (8) (2021)
Ryan M Baxley, Wendy Leung, Megan M Schmit, Jacob Peter Matson, Lulu Yin, Marissa K Oram, Liangjun Wang, John Taylor, Jack Hedberg, Colette B Rogers, Adam J Harvey, Debashree Basu, Jenny C Taylor, Alistair T Pagnamenta, Helene Dreau, Jude Craft, Elizabeth Ormondroyd, Hugh C Watkins, Eric A Hendrickson, Emily M Mace, Jordan S Orange, Hideki Aihara, Grant S Stewart, Edward Blair, Jeanette Gowen Cook, Anja-Katrin Bielinsky
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening. Nature communications 12 (1) (2021)
Sonja Neuser, Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O'Grady, Michael Zech, Siddharth Srivastava, David A Sweetser, Yasemin Dincer, Volker Mall, Juliane Winkelmann, Christian Behrends, Basil T Darras, Robert J Graham, Parul Jayakar, Barry Byrne, Bat El Bar-Aluma, Yael Haberman, Amir Szeinberg, Hesham M Aldhalaan, Mais Hashem, Amal Al Tenaiji, Omar Ismayl, Asma E Al Nuaimi, Karima Maher, Shahnaz Ibrahim, Fatima Khan, Henry Houlden, Vijayalakshmi S Ramakumaran, Alistair T Pagnamenta, Jennifer E Posey, James R. Lupski, Wen-Hann Tan, Gehad ElGhazali, Isabella Herman, Tatiana Muñoz, Gabriela M Repetto, Angelika Seitz, Mandy Krumbiegel, Maria Cecilia Poli, Usha Kini, Stephanie Efthymiou, Jens Meiler, Reza Maroofian, Fowzan Sami Alkuraya, Rami Abou Jamra, Bernt Popp, Bruria Ben-Zeev, Darius Ebrahimi-Fakhari
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Human mutation 42 (6) (2021)
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S Müller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M Santorelli, Ahmed A Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P van de Warrenburg, Ruben Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilguvar, Sherifa Hamed, Mohamed A Abdelhamed, Nourelhoda A Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair T Pagnamenta, Nick W Wood, Frederic Tran Mau-Them, Tobias Haack, null null, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary J H Willis, Katheryn Grand, John M Graham, Richard A Lewis, Francisca Millan, Özgür Duman, Nihal Dündar, Gökhan Uyanik, Ludger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Catala Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean-Jacques Medard, Roman Chrast, Michaela Auer-Grumbach, Fowzan S Alkuraya, Hanan Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horvath, Henry Houlden, Luca Bartesaghi, Hwei-Jen Lee, Konstantinos Ampatzis, Tyler Mark Pierson, Jan Senderek
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain : a journal of neurology 144 (5) (2021)
Alistair T Pagnamenta, Francisca Díaz-González, Benito Banos-Pinero, Matteo P Ferla, Mehran B Toosi, Alistair D Calder, Ehsan G Karimiani, Mohammad Doosti, Andrew Wainwright, Paul Wordsworth, Kathryn Bailey, Katarina Ejeskär, Tracy Lester, Reza Maroofian, Karen E Heath, Homa Tajsharghi, Deborah Shears, Jenny C Taylor, null null
Variable skeletal phenotypes associated with biallelic variants in PRKG2. Journal of medical genetics (2021)
Alistair T Pagnamenta, Adam Jackson, Rahat Perveen, Glenda Beaman, Gemma Petts, Asheeta Gupta, Zerin Hyder, Brian Hon-Yin Chung, Anita Sik-Yau Kan, Ka Wang Cheung, Wilhelmina S Kerstjens-Frederikse, Kristin M Abbott, null null, Orly Elpeleg, Jenny C Taylor, Siddharth Banka, Asaf Ta-Shma
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects. Clinical genetics 101 (1) (2021)
Natalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, Jonathan Gadian, Brian Hon-Yin Chung, Marcus Cy Chan, Jasmine Lf Fung, Edwin Cook, Stephen Guter, Felix Boschann, Andre Heinen, Jens Schallner, Cyril Mignot, Boris Keren, Sandra Whalen, Catherine Sarret, Dana Mittag, Laurie Demmer, Rachel Stapleton, Ken Saida, Naomichi Matsumoto, Noriko Miyake, Ruth Sheffer, Hagar Mor-Shaked, Christopher P Barnett, Alicia B Byrne, Hamish S Scott, Alison Kraus, Gerarda Cappuccio, Nicola Brunetti-Pierri, Raffaele Iorio, Fabiola Di Dato, Lynn S Pais, Alison Yeung, Tiong Yang Tan, Jenny C Taylor, John Christodoulou, Susan M White
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Journal of medical genetics (2021)
Vassilis Ragoussis, Alistair T Pagnamenta, Rebecca L Haines, Edoardo Giacopuzzi, Martin A McClatchey, Julian R Sampson, Mohnish Suri, Alice Gardham, Jan-Maarten Cobben, Deborah Osio, Andrew E Fry, null null, Jenny C Taylor
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation. Journal of medical genetics (2021)
Shereen G Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pais, Chloe A Stutterd, Vasiliki Karageorgou, Amber Begtrup, Amy Crunk, Jane Juusola, Rebecca Willaert, Leigh A Flore, Kelly Kennelly, Christopher Spencer, Martha Brown, Pamela Trapane, Anna C E Hurst, S Lane Rutledge, Dana H Goodloe, Marie T McDonald, Vandana Shashi, Kelly Schoch, null null, Hoda Tomoum, Raghda Zaitoun, Zahra Hadipour, Hamid Galehdari, Alistair T Pagnamenta, Majid Mojarrad, Alireza Sedaghat, Patrícia Dias, Sofia Quintas, Atiyeh Eslahi, Gholamreza Shariati, Peter Bauer, Cas Simons, Henry Houlden, Mahmoud Y Issa, Maha Saad Zaki, Reza Maroofian, Joseph G Gleeson
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. European journal of human genetics : EJHG 29 (2) (2020)
Wei Wei, Alistair T Pagnamenta, Nicholas Gleadall, Alba Sanchis-Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A Odhams, null null, null null, Carl Fratter, Ernest Turro, Mark J Caulfield, Jenny C Taylor, Shamima Rahman, Patrick F Chinnery
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans. Nature communications 11 (1) (2020)
Wei Wei, Alistair T Pagnamenta, Nicholas Gleadall, Alba Sanchis-Juan, Jonathan Stephens, John Broxholme, Salih Tuna, Christopher A Odhams, null null, null null, Carl Fratter, Ernest Turro, Mark J Caulfield, Jenny C Taylor, Shamima Rahman, Patrick F Chinnery
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans. Nature communications 11 (1) (2020)
Bochao Danae Lin, Fabrice Colas, Isaac J Nijman, Jelena Medic, William Brands, Jeremy R Parr, Kristel R van Eijk, Sabine M Klauck, Andreas G Chiocchetti, Christine Margarete Freitag, Elena Maestrini, Elena Bacchelli, Hilary Coon, Astrid M Vicente, Guiomar Oliveira, Alistair T Pagnamenta, Louise Gallagher, Sean Ennis, Richard Anney, Thomas Bourgeron, Jurjen J Luykx, Jacob A S Vorstman
The role of rare compound heterozygous events in autism spectrum disorder. Translational psychiatry 10 (1) (2020)
Alistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, Emma Burkitt-Wright, Hilary C Martin, Matteo P Ferla, John M Taylor, Lianne Gompertz, Nayana Lahiri, Katrina Tatton-Brown, Ruth Newbury-Ecob, Alex Henderson, Shelagh Joss, Astrid Weber, Jenny Carmichael, Peter D Turnpenny, Shane McKee, Francesca Forzano, Tazeen Ashraf, Kimberley Bradbury, Deborah Shears, Usha Kini, Anna de Burca, null null, Edward Blair, Jenny C Taylor, Helen Stewart
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. Clinical genetics 95 (6) (2019)
Katharina Schwarze, James Buchanan, Jilles M Fermont, Helene Dreau, Mark W Tilley, John M Taylor, Pavlos Antoniou, Samantha J L Knight, Carme Camps, Melissa M Pentony, Erika M Kvikstad, Steve Harris, Niko Popitsch, Alistair T Pagnamenta, Anna Schuh, Jenny C Taylor, Sarah Wordsworth
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)
Alistair T Pagnamenta, Yoshiko Murakami, Consuelo Anzilotti, Hannah Titheradge, Adam J Oates, Jenny Morton, null null, Taroh Kinoshita, Usha Kini, Jenny C Taylor
A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. Human mutation 39 (6) (2018)

Alistair T Pagnamenta.css-eqlu8i{font-size:small;padding-left:4px;} (Alistair Pagnamenta)

Publication Activity (10 Years)

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Alistair T Pagnamenta (Alistair Pagnamenta)