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newcastle university
H指数:0
被引数:1,659

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Machine learning to classify the focus score and Sjögren's disease using digitalised salivary gland biopsies: a retrospective cohort study

利用数字化唾液腺活检进行机器学习，以分类焦点评分和Sjögren's disease：一项回顾性队列研究

The Lancet Rheumatology
IF0
2025-09-290
PRE
Julien Duquesne; Louis Basseto; Charlotte Claye; Michael Barnes; Elena Pontarini; Amaya Gallagher-Syed; Michele Bombardieri; Benjamin A Fisher; Saba Nayar; Rachel Brown; Athanasios Tzioufas; Andreas Goules; Loukas Chatzis; Kyle Thompson; Joe Berry; Wan-Fai Ng; Matilde Bandeira; Vasco C Romão; Maria Dolores López-Presa; Gaetane Nocturne; Wassila Ouerdane; Thierry Molina; Thierry Lazure; Clovis Adam; Xavier Mariette; Vincent Bouget; Samuel Bitoun
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-04-010
OAAI
Thomas, Huw B.; Demain, Leigh A. M.; Cabrera-Orefice, Alfredo; Schrauwen, Isabelle; Shamseldin, Hanan E.; Rea, Alessandro; Bharadwaj, Thashi; Smith, Thomas B.; Olahova, Monika; Thompson, Kyle; He, Langping; Kaur, Namanpreet; Shukla, Anju; Abukhalid, Musaad; Ansar, Muhammad; Rehman, Sakina; Riazuddin, Saima; Abdulwahab, Firdous; Smith, Janine M.; Stark, Zornitza; Mancilar, Hanifenur; Tumer, Sait; Esen, Fatma N.; Uctepe, Eyyup; Topcu, Vehap; Yesilyurt, Ahmet; Afzal, Erum; Salari, Mehri; Carroll, Christopher; Zifarelli, Giovanni; Bauer, Peter; Kor, Deniz; Bulut, Fatma D.; Houlden, Henry; Maroofian, Reza; Carrera, Samantha; Yue, Wyatt W.; Munro, Kevin J.; Alkuraya, Fowzan S.; Jamieson, Peter; Ahmed, Zubair M.; Leal, Suzanne M.; Taylor, Robert W.; Wittig, Ilka; O'Keefe, Raymond T.; Newman, William G.
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault- syndrome-spectrum phenotype
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-01-012
OAAI
Smith, Thomas B.; Kopajtich, Robert; Demain, Leigh A. M.; Rea, Alessandro; Thomas, Huw B.; Schiff, Manuel; Beetz, Christian; Joss, Shelagh; Conway, Gerard S.; Shukla, Anju; Yeole, Mayuri; Radhakrishnan, Periyasamy; Azzouz, Hatem; Ben Chehida, Amel; Elmaleh-Berges, Monique; Glasgow, Ruth I. C.; Thompson, Kyle; Olahova, Monika; He, Langping; Jenkinson, Emma M.; Jahic, Amir; Belyantseva, Inna A.; Barzik, Melanie; Urquhart, Jill E.; O'Sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Carrera, Samantha; Blakes, Alexander J. M.; Banka, Siddharth; Yue, Wyatt W.; Ellingford, Jamie M.; Houlden, Henry; DDD Study, D. D. D.; Munro, Kevin J.; Friedman, Thomas B.; Taylor, Robert W.; Prokisch, Holger; Keefe, Raymond T.; Newman, William G.
Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

双等位基因NDUFA13变异导致神经发育表型，逐渐神经功能缺损

BRAIN COMMUNICATIONS
IF4.5
2024-12-170
OAAI
Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Karimiani, Ehsan Ghayoor; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Mehrjardi, Mohammad Yahya Vahidi; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju K.; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; Mcfarland, Robert; Abdel-Hamid, Mohamed S.; Elhossini, Rasha M.; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N.; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W.; Maroofian, Reza
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-08-096
OAAI
Smith, Thomas B.; Rea, Alessandro; Thomas, Huw B.; Thompson, Kyle; Olahova, Monika; Maroofian, Reza; Zamani, Mina; He, Langping; Sadeghian, Saeid; Galehdari, Hamid; Lotan, Nava Shaul; Gilboa, Tal; Herman, Kristin C.; McCorvie, Thomas J.; Yue, Wyatt W.; Houlden, Henry; Taylor, Robert W.; Newman, William G.; O'Keefe, Raymond T.
Phenotypic continuum of NFU1-related disorders
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2022-10-183
OA
Kaiyrzhanov, Rauan; Zaki, Maha S.; Lau, Tracy; Sen, Sambuddha; Azizimalamiri, Reza; Zamani, Mina; Sayin, Gozde Yesil; Hilander, Taru; Efthymiou, Stephanie; Chelban, Viorica; Brown, Ruth; Thompson, Kyle; Scarano, Maria Irene; Ganesh, Jaya; Koneev, Kairgali; Gulacar, Ismail Musab; Person, Richard; Sadykova, Dinara; Maidyrov, Yerdan; Seifi, Tahereh; Zadagali, Aizhan; Bernard, Genevieve; Allis, Katrina; Elloumi, Houda Zghal; Lindy, Amanda; Taghiabadi, Ehsan; Verma, Sumit; Logan, Rachel; Kirmse, Brian; Bai, Renkui; Khalaf, Shaimaa M.; Abdel-Hamid, Mohamed S.; Sedaghat, Alireza; Shariati, Gholamreza; Issa, Mahmoud; Zeighami, Jawaher; Elbendary, Hasnaa M.; Brown, Garry; Taylor, Robert W.; Galehdari, Hamid; Gleeson, Joseph J.; Carroll, Christopher J.; Cowan, James A.; Moreno-De-Luca, Andres; Houlden, Henry; Maroofian, Reza
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2022-04-016
OAAI
Thompson, Kyle; Bianchi, Lucas; Rastelli, Francesca; Piron-Prunier, Florence; Ayciriex, Sophie; Besmond, Claude; Hubert, Laurence; Barth, Magalie; Barbosa, Ines A.; Deshpande, Charu; Chitre, Manali; Mehta, Sarju G.; Wever, Eric J. M.; Marcorelles, Pascale; Donkervoort, Sandra; Saade, Dimah; Bonnemann, Carsten G.; Chao, Katherine R.; Cai, Chunyu; Iannaccone, Susan T.; Dean, Andrew F.; McFarland, Robert; Vaz, Frederic M.; Delahodde, Agnes; Taylor, Robert W.; Rotig, Agnes
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes
EMBO MOLECULAR MEDICINE
IF8.3
2021-11-086
OAAI
Vidali, Silvia; Gerlini, Raffaele; Thompson, Kyle; Urquhart, Jill E.; Meisterknecht, Jana; Aguilar-Pimentel, Juan Antonio; Amarie, Oana, V; Becker, Lore; Breen, Catherine; Calzada-Wack, Julia; Chhabra, Nirav F.; Cho, Yi-Li; da Silva-Buttkus, Patricia; Feichtinger, Rene G.; Gampe, Kristine; Garrett, Lillian; Hoefig, Kai P.; Hoelter, Sabine M.; Jameson, Elisabeth; Klein-Rodewald, Tanja; Leuchtenberger, Stefanie; Marschall, Susan; Mayer-Kuckuk, Philipp; Miller, Gregor; Oestereicher, Manuela A.; Pfannes, Kristina; Rathkolb, Birgit; Rozman, Jan; Sanders, Charlotte; Spielmann, Nadine; Stoeger, Claudia; Szibor, Marten; Treise, Irina; Walter, John H.; Wurst, Wolfgang; Mayr, Johannes A.; Fuchs, Helmut; Gaertner, Ulrich; Wittig, Ilka; Taylor, Robert W.; Newman, William G.; Prokisch, Holger; Gailus-Durner, Valerie; de Angelis, Martin Hrabe
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-11-0138
OAAI
Hochberg, Irit; Demain, Leigh A. M.; Richer, Julie; Thompson, Kyle; Urquhart, Jill E.; Rea, Alessandro; Pagarkar, Waheeda; Rodriguez-Palmero, Agusti; Schluter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada-Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J.; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A.; McMillan, Hugh J.; Barzik, Melanie; Beaman, Glenda M.; Motha, Reeya; Ng, Kah Ying; O'Sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Lawrence, Isabella R.; Jenkinson, Emma M.; Zambonin, Jessica L.; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W.; Zschocke, Johannes; Munro, Kevin J.; Battersby, Brendan J.; Friedman, Thomas B.; Taylor, Robert W.; O'Keefe, Raymond T.; Newman, William G.
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019)
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2019-04-170
OAAI
Hayhurst, Hannah; de Coo, Irenaeus F. M.; Piekutowska-Abramczuk, Dorota; Alston, Charlotte L.; Sharma, Sunil; Thompson, Kyle; Rius, Rocio; He, Langping; Hopton, Sila; Ploski, Rafal; Ciara, Elzbieta; Lake, Nicole J.; Compton, Alison G.; Delatycki, Martin B.; Verrips, Aad; Bonnen, Penelope E.; Jones, Simon A.; Morris, Andrew A.; Shakespeare, David; Christodoulou, John; Wesol-Kucharska, Dorota; Rokicki, Dariusz; Smeets, Hubert J. M.; Pronicka, Ewa; Thorburn, David R.; Gorman, Grainne S.; McFarland, Robert; Taylor, Robert W.; Ng, Yi Shiau
Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2019-02-1719
OAAI
Hayhurst, Hannah; de Coo, Irenaeus F. M.; Piekutowska-Abramczuk, Dorota; Alston, Charlotte L.; Sharma, Sunil; Thompson, Kyle; Rius, Rocio; He, Langping; Hopton, Sila; Ploski, Rafal; Ciara, Elzbieta; Lake, Nicole J.; Compton, Alison G.; Delatycki, Martin B.; Verrips, Aad; Bonnen, Penelope E.; Jones, Simon A.; Morris, Andrew A.; Shakespeare, David; Christodoulou, John; Wesol-Kucharska, Dorota; Rokicki, Dariusz; Smeets, Hubert J. M.; Pronicka, Ewa; Thorburn, David R.; Gorman, Grainne S.; McFarland, Robert; Taylor, Robert W.; Ng, Yi Shiau
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect
EMBO MOLECULAR MEDICINE
IF8.3
2018-09-1056
OAAI
Thompson, Kyle; Mai, Nicole; Olahova, Monika; Scialo, Filippo; Formosa, Luke E.; Stroud, David A.; Garrett, Madeleine; Lax, Nichola Z.; Robertson, Fiona M.; Jou, Cristina; Nascimento, Andres; Ortez, Carlos; Jimenez-Mallebrera, Cecilia; Hardy, Steven A.; He, Langping; Brown, Garry K.; Marttinen, Paula; McFarland, Robert; Sanz, Alberto; Battersby, Brendan J.; Bonnen, Penelope E.; Ryan, Michael T.; Chrzanowska-Lightowlers, Zofia M. A.; Lightowlers, Robert N.; Taylor, Robert W.

研究方向

暂未获取到该数据
R
Robert W. Taylor
H 指数:97论文数:763被引数:3.9万
L
Langping He
H 指数:35论文数:133被引数:4,286
R
Robert McFarland
H 指数:68论文数:370被引数:1.6万
C
Charlotte L. Alston
H 指数:48论文数:143被引数:7,677
M
Monika Oláhová
H 指数:24论文数:56被引数:2,224
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.5万
W
William G. Newman
H 指数:78论文数:631被引数:3.6万
P
Penelope E. Bonnen
H 指数:35论文数:85被引数:1.1万
S
Simon Jones
H 指数:59论文数:502被引数:1.0万
R
Reza Maroofian
H 指数:40论文数:319被引数:6,016