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G

Gabriella Horváth

kunming university of science & technology
H指数:27
被引数:3,125

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Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

酪氨酸羟化酶（TH）缺乏症的诊断与治疗共识指南

Journal of Inherited Metabolic Disease
IF3.8
2025-11-100
OAAI
Mariya Sigatullina Bondarenko; Oya Kuseyri Hübschmann; Jan Kulhánek; Roser Pons; Toni S. Pearson; Kathrin Jeltsch; Ivana Badnjarevic; Tessa Wassenberg; Gabriella Horvath; Galina Stevanovic; Manju A. Kurian; Elisenda Cortès-Saladelafont; Agathe Roubertie; Vincenzo Leuzzi; Mariarita Bertoldi; Mario Mastrangelo; Birgit Assmann; THD Guidelines Working Group; Angeles Garcia-Cazorla; Thomas Opladen
Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder

Disco-Interacting Protein 2 同源物 B CGG 重复扩展在具有神经发育障碍和进行性运动障碍的同胞中的研究

MOVEMENT DISORDERS
IF7.6
2025-01-240
PRE
Theberge, Emilie T.; Durbano, Kate; Demailly, Diane; Huby, Sophie; Mitina, Aleksandra; Yin, Yue; Mohajeri, Arezoo; van Karnebeek, Clara; Horvath, Gabriella A.; Yuen, Ryan K. C.; Usdin, Karen; Lehman, Anna; Cif, Laura; Richmond, Phillip A.
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
EBIOMEDICINE
IF10.8
2023-12-015
OAAI
Lyu, Hang; Bosselmann, Christian M.; Johannesen, Katrine M.; Koko, Mahmoud; Ortigoza-Escobar, Juan Dario; Aguilera-Albesa, Sergio; Nunez, Deyanira Garcia -Navas; Linnankivi, Tarja; Gaily, Eija; Ruiten, Henriette J. A. van; Richardson, Ruth; Betzler, Cornelia; Horvath, Gabriella; Brilstra, Eva; Geerdink, Niels; Orsucci, Daniele; Tessa, Alessandra; Gardella, Elena; Fleszar, Zofia; Schoels, Ludger; Lerche, Holger; Moller, Rikke S.; Liu, Yuanyuan
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
GENETICS IN MEDICINE
IF6.2
2023-01-014
OAAI
Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P.; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K.; Wigby, Kristen M.; Baralle, Diana; Mehrjardi, Mohammad Y., V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M.; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, Francois; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T.; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E.; Ercan-Sencicek, A. Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C.; Redman, Melody; Stegmann, Alexander P. A.; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Muller, Amelie Johanna; Digilio, Maria C.; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N.; Kraus, Alison; Valenzuela, Irene; McLean, Scott D.; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E.; Torti, Erin; Haack, Tobias B.; Prada, Carlos E.; Alkuraya, Fowzan S.; Houlden, Henry; Maroofian, Reza
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2022-07-0114
OAAI
Elliott, Alison M.; Adam, Shelin; du Souich, Christele; Lehman, Anna; Nelson, Tanya N.; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T.; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K.; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J.; Patel, Millan S.; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill; Friedman, Jan M.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
ANNALS OF NEUROLOGY
IF7.7
2022-06-167
PRE
Huebschmann, Oya Kuseyri; Julia-Palacios, Natalia Alexandra; Olivella, Mireia; Guder, Philipp; Zafeiriou, Dimitrios I.; Horvath, Gabriella; Kulhanek, Jan; Pearson, Toni S.; Kuster, Alice; Cortes-Saladelafont, Elisenda; Ibanez, Salvador; Garcia-Jimenez, Maria Concepcion; Honzik, Tomas; Santer, Rene; Jeltsch, Kathrin; Garbade, Sven F.; Hoffmann, Georg F.; Opladen, Thomas; Garcia-Cazorla, Angeles
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
NATURE COMMUNICATIONS
IF15.7
2021-09-2025
OAAI
Huebschmann, Oya Kuseyri; Horvath, Gabriella; Cortes-Saladelafont, Elisenda; Yildiz, Yilmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Wong, Suet-Na; Pearson, Toni S.; Zafeiriou, Dimitrios, I; Kulhanek, Jan; Kurian, Manju A.; Lopez-Laso, Eduardo; Oppeboen, Mari; Kilavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-Buergi, Sabine; Porta, Francesco; Honzik, Tomas; Santer, Rene; Burlina, Alberto; Sivri, H. Serap; Leuzzi, Vincenzo; Hoffmann, Georg F.; Jeltsch, Kathrin; Huebschmann, Daniel; Garbade, Sven F.; Garcia-Cazorla, Angeles; Opladen, Thomas
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Dec, 10.1038/s41436-020-01020-w, 2020)
GENETICS IN MEDICINE
IF6.2
2021-04-011
OAAI
Klockner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E.; Bakker, Dewi P.; Barwick, Katy; Bonfert, Michaela V.; Bonnemann, Carsten G.; Brilstra, Eva H.; Chung, Wendy K.; Clarke, Angus J.; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L.; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A.; Lee, Virgina; Leppig, Kathleen A.; Lundgren, Johan; McDonald, Marie T.; McLaughlin, Heather M.; McTague, Amy; Mefford, Heather C.; Mignot, Cyril; Mikati, Mohamad A.; Nava, Caroline; Raymond, F. Lucy; Sampson, Julian R.; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T. C.; Shinawi, Marwan; Slavotinek, Anne; Stodberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A.; Taylor, Ashley C.; Toler, Tomi L.; van den Boogaard, Marie-Jose; van der Crabben, Saskia N.; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Van Ziffle, Jessica; Wadley, Alexandrea F.; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B.; Zarate, Yuri A.; Moller, Rikke S.; Lemke, Johannes R.; Platzer, Konrad
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
GENETICS IN MEDICINE
IF6.2
2021-04-0127
OAAI
Kloeckner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E.; Bakker, Dewi P.; Barwick, Katy; Bonfert, Michaela, V; Bonnemann, Carsten G.; Brilstra, Eva H.; Chung, Wendy K.; Clarke, Angus J.; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L.; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A.; Lee, Virgina; Leppig, Kathleen A.; Lundgren, Johan; McDonald, Marie T.; McTague, Amy; Mefford, Heather C.; Mignot, Cyril; Mikati, Mohamad A.; Nava, Caroline; Raymond, F. Lucy; Sampson, Julian R.; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T. C.; Shinawi, Marwan; Slavotinek, Anne; Stodberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A.; Taylor, Ashley C.; Toler, Tomi L.; van den Boogaard, Marie-Jose; van der Crabben, Saskia N.; van Gassen, Koen L., I; van Jaarsveld, Richard H.; Van Ziffle, Jessica; Wadley, Alexandrea F.; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B.; Zarate, Yuri A.; Moller, Rikke S.; Lemke, Johannes R.; Platzer, Konrad

研究方向

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Sylvia Stöckler‐Ipsiroglu
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Graham Sinclair
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W
Wyeth W. Wasserman
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