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M

Mahmoud R. Fassad

university college london
H指数:19
被引数:1,335

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Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease

扩展POLRMT相关线粒体疾病的遗传和表型谱

Clinical Genetics
IF2.3
2025-06-290
OA
Mahmoud R. Fassad; Sebastian Valenzuela; Monika Oláhová; Jack J. Collier; Charlotte V. Y. Knowles; Eleni Mavraki; Miriam Elbracht; Nergis Güzel; Thomas Herberhold; Ingo Kurth; Andrea Maier; Larissa Mattern; Carol Saunders; Helen McCullagh; Katrin Õunap; Saskia B. Wortmann; Andre Reis; Lei Zhang; Claes M. Gustafsson; Robert McFarland; Robert W. Taylor
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
NATURE GENETICS
IF31.8
2024-03-017
OAAI
Toepf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Boennemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xaviere; Loescher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Marti, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O'Donnell-Luria, Anne; Ogonuki, Narumi; O'Grady, Gina L.; O'Heir, Emily; Paquay, Stephanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; van den Bergh, Peter; Vannoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; Macarthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Science
IF45.8
2024-01-010
OAAI
Daniel O Dodd; Sabrina Méchaussier; Patricia Levy Yeyati; Fraser McPhie; Jacob R. Anderson; Chen Jing Khoo; Amelia Shoemark; Deepesh Kumar Gupta; Thomas Attard; Maimoona A. Zariwala; Marie Legendre; Diana Carolin Bracht; Julia Wallmeier; Miao Gui; Mahmoud R. Fassad; David A. Parry; Peter A. Tennant; Alison M. Meynert; Gabrielle Wheway; Lucas Fares‐Taie; Holly A. Black; Rana Mitri-Frangieh; Catherine Faucon; Josseline Kaplan; Mitali Patel; Lisa McKie; Roly D. Megaw; Christos Gatsogiannis; Mai A. Mohamed; Stuart Aitken; Philippe Emmanuel Gautier; Finn R. Reinholt; Robert Anthony Hirst; Christopher O’Callaghan; Ketil Heimdal; Mathieu Bottier; Estelle F. Escudier; Suzanne Crowley; Maria D. Descartes; Ethylin Wang Jabs; Priti Kenia; Jeanne Amiel; Giacomo Maria Bacci; Claudia Calogero; Viviana Palazzo; Lucia Tiberi; Ulrike Blümlein; Andrew V. Rogers; Jennifer Wambach; Daniel J. Wegner; Anne B. Fulton; Margaret A. Kenna; Margaret Rosenfeld; Ingrid A. Holm; Alan J. Quigley; Emma A. Hall; Laura C. Murphy; Diane M. Cassidy; Alex von Kriegsheim; Scottish Genomes Partnership; Undiagnosed Diseases Network; Jean‐François Papon; Laurent Pasquier; Marlène Murris; James Duncan Chalmers; Claire L. Hogg; Kenneth A. Macleod; Don S. Urquhart; Stefan Achim Unger; Timothy J. Aitman; Serge Amselem; Margaret W. Leigh; Michael R. Knowles; Heymut Omran; Hannah M. Mitchison; Alan Brown; Joseph A. Marsh; Julie P. I. Welburn; Shih-Chieh Ti; Amjad Horani; Jean‐Michel Rozet; Isabelle Perrault; Pleasantine Mill
Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.
EUROPEAN RESPIRATORY JOURNAL
IF21
2023-10-270
OA
Crowley, Suzanne; Hankey, William; Elnagheeb, Marwa; Mani, Rahma; Benito, Maria-Ines; Soliman, Rasha; Gomes, Mafalda De Almeida; Ing, Alexander; Abdelwahab, Sabri; Worley, Lindsay; Mcnulty, Shannon; Siew, Justine; Thaxton, Courtney Lynn; Loucks, Catrina M.; Thomas, Simon; Zariwala, Maimoona; Leigh, Margaret; Morris-Rosendahl, Deborah; Zietkiewicz, Ewa; Dell, Sharon; Gaston, Ben; Dworniczak, Bernd; Hirst, Robert; Raidt, Johanna; Nykamp, Keith; Hannah, William; Fassad, Mahmoud; Shoemark, Amelia; Legendre, Marie; Mitchison, Hannah
Neuromuscular disease genetics in under-represented populations: increasing data diversity
BRAIN
IF11.7
2023-07-308
OAAI
Wilson, Lindsay A.; Macken, William L.; Perry, Luke D.; Record, Christopher J.; Schon, Katherine; Frezatti, Rodrigo S. S.; Raga, Sharika; Naidu, Kireshnee; Koken, Ozlem Yayici; Polat, Ipek; Kapapa, Musambo M.; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R.; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J. L. F.; Reyaz, Alisha; Mishra, Rinkle; Topf, Ana; Trainor, Christina I.; Steyn, Elizabeth C.; Mahungu, Amokelani C.; van der Vliet, Patrick J.; Ceylan, Ahmet Cevdet; Hiz, A. Semra; Cavdarli, Busranur; Gunduz, C. Nur Semerci; Ceylan, Gulay Gulec; Nagappa, Madhu; Tallapaka, Karthik B.; Govindaraj, Periyasamy; van der Maarel, Silvere M.; Narayanappa, Gayathri; Nandeesh, Bevinahalli N.; Somwe, Somwe Wa; Bearden, David R.; Kvalsund, Michelle P.; Ramdharry, Gita M.; Oktay, Yavuz; Yis, Uluc; Topaloglu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M.; Heckmann, Jeannine M.; McFarland, Robert; Taylor, Robert W.; Smuts, Izelle; van der Westhuizen, Francois H.; da Rosa Sobreira, Claudia Ferreira; Tomaselli, Pedro J.; Marques, Wilson, Jr.; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M. V. Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y.; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F.; Pitceathly, Robert D. S.; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M.; Hanna, Michael G.
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
EMBO MOLECULAR MEDICINE
IF8.3
2023-04-049
OAAI
Erdinc, Direnis; Rodriguez-Luis, Alejandro; Fassad, Mahmoud R.; Mackenzie, Sarah; Watson, Christopher M.; Valenzuela, Sebastian; Xie, Xie; Menger, Katja E.; Sergeant, Kate; Craig, Kate; Hopton, Sila; Falkous, Gavin; Poulton, Joanna; Garcia-Moreno, Hector; Giunti, Paola; Aschoff, Carlos A. de Moura; Saute, Jonas A. Morales; Kirby, Amelia J.; Toro, Camilo; Wolfe, Lynne; Novacic, Danica; Greenbaum, Lior; Eliyahu, Aviva; Barel, Ortal; Anikster, Yair; McFarland, Robert; Gorman, Grainne S.; Schaefer, Andrew M.; Gustafsson, Claes M.; Taylor, Robert W.; Falkenberg, Maria; Nicholls, Thomas J.
The Palestinian primary ciliary dyskinesia (PCD) cohort: clinical, diagnostic and genetic spectrum
EUROPEAN RESPIRATORY JOURNAL
IF21
2021-11-252
OA
Rumman, Nisreen; Fassad, Mahmoud; Driessens, Corine; Goggin, Patricia; Abdelrahman, Nader; Adwan, Adel; Chopra, Jagrati; Doherty, Regan; Fashho, Bishara; Freke, Grace M.; Jackson, Claire L.; Mohamed, Mai; Abu Nema, Reda; Patel, Mitali P.; Pengelly, Rueben; Qaaqour, Ahmad; Rubbo, Bruna; Thompson, James; Wheway, Gabrielle; Mitchison, Hannah; Lucas, Jane
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia
EUROPEAN RESPIRATORY JOURNAL
IF21
2021-04-0115
OAAI
Lee, Dani Do Hyang; Cardinale, Daniela; Nigro, Ersilia; Butler, Colin R.; Rutman, Andrew; Fassad, Mahmoud R.; Hirst, Robert A.; Moulding, Dale; Agrotis, Alexander; Forsythe, Elisabeth; Peckham, Daniel; Robson, Evie; Smith, Claire M.; Somavarapu, Satyanarayana; Beales, Philip L.; Hart, Stephen L.; Janes, Sam M.; Mitchison, Hannah M.; Ketteler, Robin; Hynds, Robert E.; O'Callaghan, Christopher
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia
EUROPEAN RESPIRATORY JOURNAL
IF21
2021-01-2150
OA
Shoemark, Amelia; Rubbo, Bruna; Legendre, Marie; Fassad, Mahmoud R.; Haarman, Eric G.; Best, Sunayna; Bon, Irma C. M.; Brandsma, Joost; Burgel, Pierre-Regis; Carlsson, Gunnar; Carr, Siobhan B.; Carroll, Mary; Edwards, Matt; Escudier, Estelle; Honore, Isabelle; Hunt, David; Jouvion, Gregory; Loebinger, Michel R.; Maitre, Bernard; Morris-Rosendahl, Deborah; Papon, Jean-Francois; Parsons, Camille M.; Patel, Mitali P.; Thomas, N. Simon; Thouvenin, Guillaume; Walker, Woolf T.; Wilson, Robert; Hogg, Claire; Mitchison, Hannah M.; Lucas, Jane S.
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort
JOURNAL OF MEDICAL GENETICS
IF3.7
2019-12-2563
OAAI
Fassad, Mahmoud R.; Patel, Mitali P.; Shoemark, Amelia; Cullup, Thomas; Hayward, Jane; Dixon, Mellisa; Rogers, Andrew, V; Ollosson, Sarah; Jackson, Claire; Goggin, Patricia; Hirst, Robert A.; Rutman, Andrew; Thompson, James; Jenkins, Lucy; Aurora, Paul; Moya, Eduardo; Chetcuti, Philip; O'Callaghan, Chris; Morris-Rosendahl, Deborah J.; Watson, Christopher M.; Wilson, Robert; Carr, Siobhan; Walker, Woolf; Pitno, Andreia; Lopes, Susana; Morsy, Heba; Shoman, Walaa; Pereira, Luisa; Constant, Carolina; Loebinger, Michael R.; Chung, Eddie M. K.; Kenia, Priti; Rumman, Nisreen; Fasseeh, Nader; Lucas, Jane S.; Hogg, Claire; Mitchison, Hannah M.
Expanding the phenome and variome of skeletal dysplasia
GENETICS IN MEDICINE
IF6.2
2018-12-0154
OAAI
Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan E.; Anazi, Shams; Ewida, Nour; Alsaif, Hessa S.; Mohamed, Jawahir Y.; Alazami, Anas M.; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari, Muneera; Alsagheir, Afaf; Seidahmed, Mohammed Zain; Sogati, Samira; Aglan, Mona S.; Hamad, Muddathir H.; Salih, Mustafa A.; Hamed, Ahlam A.; Alhashmi, Nadia; Nabil, Amira; Alfadli, Fatima; Abdel-Salam, Ghada M. H.; Alkuraya, Hisham; Peitee, Winnie Ong; Keng, W. T.; Qasem, Abdullah; Mushiba, Aziza M.; Zaki, Maha S.; Fassad, Mahmoud R.; Alfadhel, Majid; Alexander, Saji; Sabr, Yasser; Temtamy, Samia; Ekbote, Alka V.; Ismail, Samira; Hosny, Gamal Ahmed; Otaify, Ghada A.; Amr, Khalda; Al Tala, Saeed; Khan, Arif O.; Rizk, Tamer; Alaqeel, Aida; Alsiddiky, Abdulmonem; Singh, Ankur; Kapoor, Seema; Alhashem, Amal; Faqeih, Eissa; Shaheen, Ranad; Alkuraya, Fowzan S.
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2018-12-0192
OAAI
Fassad, Mahmoud R.; Shoemark, Amelia; Legendre, Marie; Hirst, Robert A.; Koll, France; le Borgne, Pierrick; Louis, Bruno; Daudvohra, Farheen; Patel, Mitali P.; Thomas, Lucie; Dixon, Mellisa; Burgoyne, Thomas; Hayes, Joseph; Nicholson, Andrew G.; Cullup, Thomas; Jenkins, Lucy; Carr, Siobhan B.; Aurora, Paul; Lemullois, Michel; Aubusson-Fleury, Anne; Papon, Jean-Francois; O'Callaghan, Christopher; Amselem, Serge; Hogg, Claire; Escudier, Estelle; Tassin, Anne-Marie; Mitchison, Hannah M.
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
THORAX
IF7.7
2018-08-3052
OAAI
Best, Sunayna; Shoemark, Amelia; Rubbo, Bruna; Patel, Mitali P.; Fassad, Mahmoud R.; Dixon, Mellisa; Rogers, Andrew V.; Hirst, Robert A.; Rutman, Andrew; Ollosson, Sarah; Jackson, Claire L.; Goggin, Patricia; Thomas, Simon; Pengelly, Reuben; Cullup, Thomas; Pissaridou, Eleni; Hayward, Jane; Onoufriadis, Alexandros; O'Callaghan, Christopher; Loebinger, Michael R.; Wilson, Robert; Chung, Eddie M. K.; Kenia, Priti; Doughty, Victoria L.; Carvalho, Julene S.; Lucas, Jane S.; Mitchison, Hannah M.; Hogg, Claire

研究方向

暂未获取到该数据
H
Hannah M. Mitchison
H 指数:67论文数:265被引数:1.4万
A
Amelia Shoemark
H 指数:49论文数:344被引数:8,692
M
Mitali Patel
H 指数:22论文数:51被引数:2,480
C
Claire Hogg
H 指数:42论文数:195被引数:6,941
J
Jane S. Lucas
H 指数:58论文数:379被引数:1.2万
R
Robert A. Hirst
H 指数:41论文数:136被引数:6,116
M
Mellisa Dixon
H 指数:14论文数:37被引数:1,343
T
Thomas Cullup
H 指数:26论文数:64被引数:2,871
C
Christopher O’Callaghan
H 指数:52论文数:236被引数:1.0万
M
Marie Legendre
H 指数:36论文数:215被引数:5,377