Benchmarking of univariate pleiotropy detection methods applied to epilepsy.

Autor: Adesoji OM; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; University Hospital Cologne, Medical Faculty, University of Cologne, Cologne, Germany., Schulz H; Department of Microgravity and Translational Regenerative Medicine, Clinic of Plastic, Aesthetic and Hand Surgery, Otto von Guericke University, Magdeburg, Germany., May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg., Krause R; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette, Luxembourg., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Nothnagel M; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; University Hospital Cologne, Medical Faculty, University of Cologne, Cologne, Germany.

Publikováno v: Human mutation [Hum Mutat] 2022 Sep; Vol. 43 (9), pp. 1314-1332. Date of Electronic Publication: 2022 Jul 08.

Rare copy-number variants as modulators of common disease susceptibility.

Autor: Auwerx, Chiara^1,2,3,4 (AUTHOR) chiara.auwerx@unil.ch, Jõeloo, Maarja^5,6 (AUTHOR), Sadler, Marie C.^2,3,4 (AUTHOR), Tesio, Nicolò¹ (AUTHOR), Ojavee, Sven^2,3 (AUTHOR), Clark, Charlie J.¹ (AUTHOR), Mägi, Reedik⁶ (AUTHOR), Estonian Biobank Research Team (AUTHOR), Esko, Tõnu (AUTHOR), Metspalu, Andres (AUTHOR), Milani, Lili (AUTHOR), Nelis, Mari (AUTHOR), Reymond, Alexandre¹ (AUTHOR) alexandre.reymond@unil.ch, Kutalik, Zoltán^2,3,4 (AUTHOR) zoltan.kutalik@unil.ch

Publikováno v: Genome Medicine. 1/8/2024, Vol. 16 Issue 1, p1-24. 24p.

Sickle cell nephropathy; exploring epidemiology, diagnostic challenges, and precision medicine advances.

Autor: Rastegar-Kashkouli, Ali, Yousefi, Pourya, Jafari, Mohsen, Taravati, Amir Mohammad, Shahrokh, Seyedeh Ghazal, Rastegar, Dordaneh

Publikováno v: Journal of Preventive Epidemiology; Jun2024, Vol. 9 Issue 2, p1-4, 4p

WONOEP appraisal: Genetic insights into early onset epilepsies.

Autor: Quatraccioni A; Institute of Neuropathology, Section for Translational Epilepsy Research, Medical Faculty, University of Bonn, Bonn, Germany., Cases-Cunillera S; Neuronal Signaling in Epilepsy and Glioma, Université Paris Cité, Institute of Psychiatry and Neuroscience of Paris, INSERM U1266, Paris, France., Balagura G; Department of Neuroscience, Ophthalmology, Maternal and Child Health, University of Genoa, Genoa, Italy., Coleman M; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Rossini L; Epilepsy Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy., Mills JD; Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, UK.; Chalfont Centre for Epilepsy, Chalfont St. Peter, UK.; Department of (Neuro)Pathology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Casillas-Espinosa PM; Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Victoria, Australia.; Department of Neurology, Alfred Hospital, Melbourne, Victoria, Australia.; Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia., Moshé SL; Isabelle Rapin Division of Child Neurology, Saul R. Korey Department of Neurology, and Department of Neuroscience and Pediatrics, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, New York, USA., Sankar R; Department of Neurology and Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA., Baulac S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, AP-HP, Hôpital de la Pitié Salpêtrière, Paris, France., Noebels JL; Departments of Neurology, Neuroscience, and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Auvin S; AP-HP, Hôpital Robert-Debré, INSERM NeuroDiderot, DMU Innov-RDB, Neurologie Pédiatrique, member of European Reference Network EpiCARE, Université Paris Cité and Institut Universitaire de France, Paris, France., O'Brien TJ; Department of Neuroscience, Alfred Hospital, Monash University, Melbourne, Victoria, Australia.; Department of Medicine (Royal Melbourne Hospital), University of Melbourne, Parkville, Victoria, Australia., Henshall DC; Department of Physiology and Medical Physics and FutureNeuro SFI Research Centre, RCSI University of Medicine and Health Sciences, Dublin, Ireland., Akman Ö; Department of Physiology, Faculty of Medicine, Demiroglu Bilim University, Istanbul, Turkey., Galanopoulou AS; Saul R. Korey Department of Neurology, Isabelle Rapin Division of Child Neurology, Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, New York, USA.

Publikováno v: Epilepsia [Epilepsia] 2024 Nov; Vol. 65 (11), pp. 3138-3154. Date of Electronic Publication: 2024 Sep 20.

Relevance of repeated analyses of albuminuria and glomerular filtration rate in African children with sickle cell anaemia.

Autor: Nkoy AB; Division of Nephrology, Department of Pediatrics, University Hospital of Kinshasa, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Laboratory of Pediatric Nephrology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Mumaka FM; Division of Nephrology, Department of Pediatrics, University Hospital of Kinshasa, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Ngonde A; REZODREPANO SS, Kinshasa, Democratic Republic of Congo., Mafumba SK; Hôpital Général de Référence de Kinkole, Kinshasa, Democratic Republic of Congo., Matoka TT; Division of Nephrology, Department of Pediatrics, University Hospital of Kinshasa, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Kitenge R; Centre de Formation et d'Appui Sanitaire (CEFA)/Monkole, Kinshasa, Democratic Republic of Congo., Talu FM; Division of Nephrology, Department of Pediatrics, University Hospital of Kinshasa, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Nkolomoni B; Centre de Médecine Mixte et Anémie SS (CMMASS), Kinshasa, Democratic Republic of Congo., Tshilolo L; Centre de Formation et d'Appui Sanitaire (CEFA)/Monkole, Kinshasa, Democratic Republic of Congo., van den Heuvel LP; Laboratory of Pediatric Nephrology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.; Department of Pediatric Nephrology, Radboud University Medical Centre, Nijmegen, The Netherlands., Ekulu PM; Division of Nephrology, Department of Pediatrics, University Hospital of Kinshasa, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo., Levtchenko EN; Laboratory of Pediatric Nephrology, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands., Labarque V; Department of Pediatric Hematology, University Hospital Leuven, Leuven, Belgium.; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.

Publikováno v: British journal of haematology [Br J Haematol] 2024 Sep; Vol. 205 (3), pp. 1137-1146. Date of Electronic Publication: 2024 Jun 27.