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K

Karen Stals

queens university belfast
H指数:24
被引数:2,519

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C-terminally clustered UGDH hypomorphic variants reveal subtle mechanisms of cellular and developmental disruption

C-末端聚集的UGDH低活性变体揭示了细胞和发育干扰的微妙机制

Matrix Biology
IF4.8
2026-04-280
OAAI
Hali Harwood; Brenna M. Zimmer; Asher R. Utz; Myrrhe Venema; Emily Allego; Sydney S. Skirboll; Autumn Harding; Jeffrey R. Enders; Sarah Grantham-Hill; Frances Elmslie; Yong-Ru Ly; Antonia Clarke; Maria Xu; Hui Jeen Tan; Karen Stals; Saumya Shekhar Jamuar; Tahsin Stefan Barakat; Thomas M. Makris; Joseph J. Barycki; Melanie A. Simpson
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality

蛋白酶体调节因子PSMF1的变异导致从帕金森病到围产期死亡表型谱

Nature Communications
IF15.7
2026-04-150
OAAI
Francesca Magrinelli; Christelle Tesson; Plamena R. Angelova; Jose A. Rodriguez; Annarita Scardamaglia; Benjamin O’Callaghan; Simon A. Lowe; Ainara Salazar-Villacorta; Brian Hon-Yin Chung; Matthew Jaconelli; Barbara Vona; Noemi Esteras; Angela Mammana; Junko Shimazu; Anna Ka-Yee Kwong; Thomas Courtin; Shahryar Alavi; Reza Maroofian; Raja Nirujogi; Mariasavina Severino; Edoardo Monfrini; Clarissa Rocca; Patrick A. Lewis; Stephanie Efthymiou; Rebecca Buchert; Linda Sofan; Pawel Lis; Chloé Pinon; Guido J. Breedveld; Martin Man-Chun Chui; David Murphy; Vanessa Pitz; Mary B. Makarious; Simone Baiardi; Marina Volin; Marlene Cassar; Bassem A. Hassan; Sana Iftikhar; Peter Bauer; Michele Tinazzi; Marina Svetel; Bedia Samanci; Haşmet A. Hanağası; Basar Bilgiç; Francesco Cavallieri; Mario Santangelo; José A. Obeso; Monica M. Kurtis; Guillaume Cogan; Güneş Kiziltan; Tuğçe Gül-Demirkale; Hülya Tireli; Gülbün A. Yüksel; Gül Yalçın-Cakmakli; Bülent Elibol; Nina Barišić; Earny Wei-Sen Ng; Sze-Shing Fan; Tova Hershkovitz; Karin Weiss; Javeria Raza Alvi; Tipu Sultan; Issam Azmi Alkhawaja; Tawfiq Froukh; Hadeel Abdollah E. Alrukban; Muhammad Nadeem Anjum; Anjum Saeed; Huma Arshad Cheema; Christine Fauth; Ulrich A. Schatz; Thomas Zöggeler; Michael Zech; Karen Stals; Vinod Varghese; Sonia Gandhi; Cornelis Blauwendraat; John A. Hardy; Alessio Di Fonzo; Vincenzo Bonifati; Tobias B. Haack; Aida M. Bertoli-Avella; Suzanne Lesage; Ayşe Nazlı Başak; Robert Steinfeld; Piero Parchi; James E. C. Jepson; Dario R. Alessi; Alexis Brice; Hermann Steller; Andrey Y. Abramov; Kailash P. Bhatia; Henry Houlden
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

KDM2A基因中的全新变异导致一种综合征性神经发育障碍

American Journal of Human Genetics
IF8.1
2026-01-011
OA
Anderson, Eric N.; Drukewitz, Stephan; Kour, Sukhleen; Chimata, Anuradha, V; Rajan, Deepa S.; Schonnagel, Senta; Stals, Karen L.; Donnelly, Deirdre; O'sullivan, Siobhan; Mantovani, John F.; Tan, Tiong Y.; Stark, Zornitza; Zacher, Pia; Chatron, Nicolas; Monin, Pauline; Drunat, Severine; Vial, Yoann; Latypova, Xenia; Levy, Jonathan; Verloes, Alain; Carter, Jennefer N.; Bonner, Devon E.; Shankar, Suma P.; Bernstein, Jonathan A.; Cohen, Julie S.; Comi, Anne; Carere, Deanna Alexis; Dyer, Lisa M.; Mullegama, Sureni, V; Sanchez-Lara, Pedro A.; Grand, Katheryn; Kim, Hyung-Goo; Ben-Mahmoud, Afif; Gospe Jr, Sidney M.; Belles, Rebecca S.; Bellus, Gary; Lichtenbelt, Klaske D.; Oegema, Renske; Rauch, Anita; Ivanovski, Ivan; Mau-Them, Frederic Tran; Garde, Aurore; Rabin, Rachel; Pappas, John; Bley, Annette E.; Bredow, Janna; Wagner, Timo; Decker, Eva; Bergmann, Carsten; Domenach, Louis; Margot, Henri; Lemke, Johannes R.; Abou Jamra, Rami; Hentschel, Julia; Mefford, Heather; Singh, Amit; Pandey, Udai Bhan; Platzer, Konrad
LONP1 Variants Are Associated With Clinically Diverse Phenotypes

LONP1 变体与临床表型多样性相关

Clinical Genetics
IF2.3
2025-09-100
PRE
Randee E. Young; Lu Qiao; Rebecca Hernan; David A. Sweetser; Jessica L. Waxler; Daryl A. Scott; Tiana M. Scott; Seema R. Lalani; Mahshid S. Azamian; Jill A. Rosenfeld; Bret Bostwick; Lindsay C. Burrage; Undiagnosed Diseases Network; Lance H. Rodan; Bianca E. Russell; Marina Dutra-Clarke; Michael Kruer; Somayeh Bakhtiarim; Hossein Darvish; David J. Amor; Shamima Rahman; Karen Stals; Lisa Bradley; Susan Byrne; Leandra K. Tolusso; Beatrix Wong; Laura Benedict; Kimberly Wallis; Kestutis Micke; Cindy Colson; Thomas Smol; Sabrina V. Southwick; Kristen A. Miller; Michelle L. Kush; Odelia Chorin; Annick Rothschild; Wei Wang; Yufeng Shen; Wendy K. Chung
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-04-010
PRE
Guillouet, Charlotte; Agostini, Valeria; Baujat, Genevieve; Cocciadiferro, Dario; Pippucci, Tommaso; Lesieur-Sebellin, Marion; Georget, Mathieu; Schatz, Ulrich; Fauth, Christine; Louie, Raymond J.; Rogers, Curtis; Davis, Jessica M.; Konstantopoulou, Vassiliki; Mayr, Johannes A.; Bouman, Arjan; Wilke, Martina; VanNoy, Grace E.; England, Eleina M.; Park, Kristen L.; Brown, Kathleen; Saenz, Margarita; Novelli, Antonio; Digilio, Maria Cristina; Mastromoro, Gioia; Rongioletti, Mauro Ciro Antonio; Piacentini, Gerardo; Kaiyrzhanov, Rauan; Guliyeva, Sughra; Hasanova, Lala; Shears, Deborah; Bhatnagar, Ishita; Stals, Karen; Klaas, Oliver; Horvath, Judit; Bouvagnet, Patrice; Witmer, P. Dane; MacCarrick, Gretchen; Cisarova, Katarina; Good, Jean-Marc; Gorokhova, Svetlana; Boute, Odile; Smol, Thomas; Bruel, Ange-Line; Patat, Olivier; Broadbent, Julia R.; Tan, Tiong Y.; Tan, Natalie B.; Lyonnet, Stanislas; Busa, Tiffany; Graziano, Claudio; Amiel, Jeanne; Gordon, Christopher T.
CIROZ is dispensable in ancestral vertebrates but essential for left in humans
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-02-010
PRE
Szenker-Ravi, Emmanuelle; Ott, Tim; Yusof, Amirah; Chopra, Maya; Khatoo, Muznah; Pak, Beatrice; Goh, Wei Xuan; Beckers, Anja; Brady, Angela F.; Ewans, Lisa J.; Djaziri, Nabila; Almontashiri, Naif A. M.; Alghamdi, Malak Ali; Alharby, Essa; Dasouki, Majed; Romo, Lindsay; Tan, Wen-Hann; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Giordano, Jessica L.; Alkelai, Anna; Wapner, Ronald J.; Stals, Karen; Alfadhel, Majid; Alswaid, Abdulrahman Faiz; Bogusch, Susanne; Schafer-Kosulya, Anna; Vogel, Sebastian; Vick, Philipp; Schweickert, Axel; Wakeling, Matthew; Bellaing, Anne Moreau de; Alshamsi, Aisha M.; Sanlaville, Damien; Mbarek, Hamdi; Saad, Chadi; Ellard, Sian; Eisenhaber, Frank; Tripolszki, Kornelia; Beetz, Christian; Bauer, Peter; Gossler, Achim; Eisenhaber, Birgit; Blum, Martin; Bouvagnet, Patrice; Bertoli-Avella, Aida; Amiel, Jeanne; Gordon, Christopher T.; Reversade, Bruno
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
EMBO MOLECULAR MEDICINE
IF8.3
2024-11-201
PRE
Van Haute, Lindsey; Palenikova, Petra; Tang, Jia Xin; Nash, Pavel A.; Simon, Mariella T.; Pyle, Angela; Olahova, Monika; Powell, Christopher A.; Rebelo-Guiomar, Pedro; Stover, Alexander; Champion, Michael; Deshpande, Charulata; Baple, Emma L.; Stals, Karen L.; Ellard, Sian; Anselem, Olivia; Molac, Clemence; Petrilli, Giulia; Loeuillet, Laurence; Grotto, Sarah; Attie-Bitach, Tania; Abdenur, Jose E.; Taylor, Robert W.; Minczuk, Michal
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
GENETICS IN MEDICINE
IF6.2
2024-02-011
PRE
Jeffries, Lauren; Mis, Emily K.; McWalter, Kirsty; Donkervoort, Sandra; Brodsky, Nina N.; Carpier, Jean-Marie; Ji, Weizhen; Ionita, Cristian; Roy, Bhaskar; Morrow, Jon S.; Darbinyan, Armine; Iyer, Krishna; Aul, Ritu B.; Banka, Siddharth; Chao, Katherine R.; Cobbold, Laura; Cohen, Stacey; Custodio, Helena M.; Drummond-Borg, Margaret; Elmslie, Frances; Finanger, Erika; Hainline, Bryan E.; Helbig, Ingo; Hewson, Stacy; Hu, Ying; Jackson, Adam; Josifova, Dragana; Konstantino, Monica; Leach, Meganne E.; Mak, Bryan; McCormick, David; McGee, Elisabeth; Nelson, Stanley; Nguyen, Joanne; Nugent, Kimberly; Ortega, Lucy; Goodkin, Howard P.; Roeder, Elizabeth; Roy, Sani; Sapp, Katie; Saade, Dimah; Sisodiya, Sanjay M.; Stals, Karen; Towner, Shelley; Wilson, William; Khokha, Mustafa K.; Boennemann, Carsten G.; Lucas, Carrie L.; Lakhani, Saquib A.
Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition
FRONTIERS IN IMMUNOLOGY
IF5.9
2023-12-053
OAAI
Burleigh, Alice; Moraitis, Elena; Al Masroori, Eman; Al-Abadi, Eslam; Hong, Ying; Omoyinmi, Ebun; Titheradge, Hannah; Stals, Karen; Jones, Wendy D.; Gait, Anthony; Jayarajan, Vignesh; Di, Wei-Li; Sebire, Neil; Solman, Lea; Ogboli, Malobi; Welch, Steven B.; Sudarsanam, Annapurna; Wacogne, Ian; Price-Kuehne, Fiona; Jensen, Barbara; Brogan, Paul A.; Eleftheriou, Despina
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects

双等位基因PKP2功能丧失变体与致死性围产期发作的双心室扩张型心肌病有关，伴有过多的小梁和室间隔缺损

JOURNAL OF MEDICAL GENETICS
IF3.7
2023-11-271
OA
Gibb, Jack; Wall, Elizabeth; Fields, Ella; Seale, Anna; Armstrong, Catherine; Bamber, Andrew; Daubeney, Piers; Jacobs-Pearson, Makaela; Marton, Tamas; Stals, Karen; Low, Karen; Kaski, Juan Pablo; Spentzou, Georgia
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling
PLOS GENETICS
IF3.7
2023-11-075
OAAI
Marom, Ronit; Zhang, Bo; Washington, Megan E.; Song, I-Wen; Burrage, Lindsay C.; Rossi, Vittoria C.; Berrier, Ava S.; Lindsey, Anika; Lesinski, Jacob; Nonet, Michael L.; Chen, Jian; Baldridge, Dustin; Silverman, Gary A.; Sutton, V. Reid; Rosenfeld, Jill A.; Tran, Alyssa A.; Hicks, M. John; Murdock, David R.; Dai, Hongzheng; Weis, Maryann; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Caswell, Richard; Pottinger, Carrie; Cilliers, Deirdre; Stals, Karen; Eyre, David; Krakow, Deborah; Schedl, Tim; Pak, Stephen C.; Lee, Brendan H.
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-07-2710
PRE
Ganapathi, Mythily; Matsuoka, Leticia S.; March, Michael; Li, Dong; Brokamp, Elly; Benito-Sanz, Sara; White, Susan M.; Lachlan, Katherine; Ahimaz, Priyanka; Sewda, Anshuman; Bastarache, Lisa; Thomas-Wilson, Amanda; Stole, Joan M.; Bramswig, Nuria C.; Baptista, Julia; Stals, Karen; Demurger, Florence; Cogne, Benjamin; Isidor, Bertrand; Bedeschi, Maria Francesca; Peron, Angela; Amiel, Jeanne; Zackai, Elaine; Schacht, John P.; Iglesias, Alejandro D.; Morton, Jenny; Schmetz, Ariane; Seidel, Veronica; Lucia, Stephanie; Baskin, Stephanie M.; Thiffault, Isabelle; Cogan, Joy D.; Gordon, Christopher T.; Chung, Wendy K.; Bowdin, Sarah; Bhoj, Elizabeth
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
GENETICS IN MEDICINE
IF6.2
2022-09-014
OAAI
Dias, Kerith-Rae; Carlston, Colleen M.; Blok, Laura E. R.; De Hayr, Lachlan; Nawaz, Urwah; Evans, Carey-Anne; Bayrak-Toydemir, Pinar; Htun, Stephanie; Zhu, Ying; Ma, Alan; Lynch, Sally Ann; Moorwood, Catherine; Stals, Karen; Ellard, Sian; Bainbridge, Matthew N.; Friedman, Jennifer; Pappas, John G.; Rabin, Rachel; Nowak, Catherine B.; Douglas, Jessica; Wilson, Theodore E.; Sacoto, Maria J. Guillen; Mullegama, Sureni, V; Palculict, Timothy Blake; Kirk, Edwin P.; Pinner, Jason R.; Edwards, Matthew; Montanari, Francesca; Graziano, Claudio; Pippucci, Tommaso; Dingmann, Bri; Glass, Ian; Mefford, Heather C.; Shimoji, Takeyoshi; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Streff, Haley; Schaaf, Christian P.; Slavotinek, Anne M.; Voineagu, Irina; Carey, John C.; Buckley, Michael F.; Schenck, Annette; Harvey, Robert J.; Roscioli, Tony
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder
HUMAN MUTATION
IF3.7
2022-08-105
OAAI
Janssen, Beau D. E.; van den Boogaard, Marie-Jose H.; Lichtenbelt, Klaske; Seaby, Eleanor G.; Stals, Karen; Ellard, Sian; Newbury-Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Ounap, Katrin; Firth, Helen, V; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, Rong; Ennis, Sarah; Holwerda, Sjoerd J.; van Gassen, Koen; van Jaarsveld, Richard H.
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-07-0120
OAAI
Ismail, Vardha; Zachariassen, Linda G.; Godwin, Annie; Sahakian, Mane; Ellard, Sian; Stals, Karen L.; Baple, Emma; Brown, Kate Tatton; Foulds, Nicola; Wheway, Gabrielle; Parker, Matthew O.; Lyngby, Signe M.; Pedersen, Miriam G.; Desir, Julie; Bayat, Allan; Musgaard, Maria; Guille, Matthew; Kristensen, Anders S.; Baralle, Diana
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans
HUMAN MOLECULAR GENETICS
IF3.2
2022-04-093
PRE
Guimier, Anne; de Pontual, Loic; Braddock, Stephen R.; Torti, Erin; Perez-Jurado, Luis A.; Munoz-Cabello, Patricia; Arumi, Montserrat; Monaghan, Kristin G.; Lee, Hane; Wang, Lee-kai; Pluym, Ilina D.; Lynch, Sally Ann; Stals, Karen; Ellard, Sian; Muller, Cecile; Houyel, Lucile; Cohen, Laurence; Lyonnet, Stanislas; Bajolle, Fanny; Amiel, Jeanne; Gordon, Christopher T.

研究方向

暂未获取到该数据
S
Sian Ellard
H 指数:118论文数:918被引数:5.5万
M
Márta Korbonits
H 指数:82论文数:850被引数:2.6万
R
Richard Caswell
H 指数:37论文数:137被引数:5,211
S
Sally Ann Lynch
H 指数:62论文数:351被引数:1.4万
P
Plamena Gabrovska
H 指数:12论文数:36被引数:950
E
Emma L. Baple
H 指数:36论文数:161被引数:5,440
A
Ashley Grossman
H 指数:117论文数:1,099被引数:5.5万
M
Matthew N. Wakeling
H 指数:21论文数:85被引数:2,000
L
Laura C. Hernández‐Ramírez
H 指数:23论文数:66被引数:1,495
R
Robert W. Taylor
H 指数:97论文数:763被引数:3.9万