Mads Bak - Publications, H-index & Citations

Mads Bak

university of copenhagen

37H指数

185论文数

1.1W被引数

收录论文 58

发表时间

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies snRNA基因的系统分析揭示了显性和隐性发育性和癫痫性脑病中常见的RNU2-2变异

Nature Genetics

IF29

2026-03-30

OAAI

Elsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava

DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals PACS1相关疾病的DNA甲基化特征及24例未报道个体的临床界定

European Journal of Human Genetics

IF4.6

2026-03-25

PREAI

Quentin Sabbagh; Camille Cenni; Sadegheh Haghshenas; Jean-Luc Alessandri; Mads Bak; Allan Bayat; Mouna Barat-Houari; Alfredo Brusco; Tiffany Busa; Anaïs Calaya; Paige Calvert; Valérie Cormier-Daire; Christine Coubes; Yannis Duffourd; Giovanni B. Ferrero; Anne Guimier; Damien Haye; Tina Duelund Hjortshøj; Laetitia Lambert; Karen Bonde Larsen; Carolyn Lauzon-Young; Gaetan Lesca; Nicolas Chatron; Michael A. Levy; Diego Lopergolo; Henri Margot; Haley McConkey; Pauline Monin; Godelieve Morel; Sophie Naudion; Mathilde Nizon; Sylvie Odent; Lucile Pinson; Linda Pons; Audrey Putoux; Marlène Rio; Massimiliano Rossi; Lucie Rouaux; Flavien Rouxel; Nathalie Ruiz-Pallares; Elodie Sanchez; Stefano Pagano; Filippo M. Santorelli; Clément Sauvestre; Jennifer C. Schymick; Victoria Mok Siu; Marta Spodenkiewicz; Matthew Tedder; Mylène Tharreau; Frédéric Tran Mau-Them; Zeynep Tümer; Irene Valenzuela; Julien Van Gils; Marjolaine Willems; Aron Kirchhoff; Peter Krawitz; Jennifer Kerkhof; Janneke H. M. Schuurs-Hoeijmakers; Bekim Sadikovic; David Geneviève

Diagnostic yield of whole exome sequencing in a cohort of 825 patients 全外显子组测序在825例患者中的诊断率

European Journal of Medical Genetics

IF1.7

2025-12-01

OAAI

Andersen, Peter Forster; Ek, Jakob; Karstensen, Helena Gasdal; Bak, Mads; Gronborg, Sabine Weller; Hove, Hanne Buciek; Diness, Birgitte; Hjortshoj, Tina Duelund; Hammer, Trine Bjorg; Hoi-Hansen, Christina; Schonewolf-Greulich, Bitten; Bisgaard, Anne-Marie; Duno, Morten; Ostergaard, Elsebet

Clinical Feasibility of Long-Read WGS for DNA Methylation Signature Analysis 长读长WGS在DNA甲基化特征分析中的临床可行性

Clinical Genetics

IF2.3

2025-11-01

PREAI

Hildonen, Mathis; Mariani, Luca; Dalsberg, Jonas; Bak, Mads; Weksberg, Rosanna; Choufani, Sanaa; Tumer, Zeynep

Enhancing Health Innovation and Entrepreneurship Through an Entrepreneurial Fellowship Program 通过创业 Fellowship 项目提升健康创新与创业能力

ANNALS OF BIOMEDICAL ENGINEERING

IF5.4

2025-05-05

OAAI

Bloch, Carter; Bak, Mads Schafer; Glud, Sys Zoffmann

Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver-Russell Syndrome and Intellectual Disability 平衡易位t(3;12)导致双胞胎中Silver-Russell综合征及智力障碍患者HMGA2和NAALADL2基因的破坏

CLINICAL GENETICS

IF2.3

2025-01-23

PREAI

de Souza, Vanessa Sodre; Wawruk, Halinna Dornelles; Mehrjouy, Mana M.; Bak, Mads; da Cunha, Gabriela Corassa Rodrigues; Goncalves, Ana Caroline Gabriel; Cordoba, Mara Santos; Tommerup, Niels; Mazzeu, Juliana F.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants

EPILEPSIA

IF6.6

2024-07-02

PREAI

Cuccurullo, Claudia; Irelli, Emanuele Cerulli; Ugga, Lorenzo; Riva, Antonella; D'Amico, Alessandra; Cabet, Sara; Lesca, Gaetan; Bilo, Leonilda; Zara, Federico; Iliescu, Catrinel; Barca, Diana; Fung, France; Helbig, Katherine; Ortiz-Gonzalez, Xilma; Schelhaas, Helenius J.; Willemsen, Marjolein H.; van der Linden, Inge; Canafoglia, Laura; Courage, Carolina; Gommaraschi, Samuele; Gonzalez-Alegre, Pedro; Bardakjian, Tanya; Syrbe, Steffen; Schuler, Elisabeth; Lemke, Johannes R.; Vari, Stella; Roende, Gitte; Bak, Mads; Huq, Mahbulul; Powis, Zoe; Johannesen, Katrine M.; Hammer, Trine Bjorg; Moller, Rikke S.; Rabin, Rachel; Pappas, John; Zupanc, Mary L.; Zadeh, Neda; Cohen, Julie; Naidu, Sakkubai; Krey, Ilona; Saneto, Russell; Thies, Jenny; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Minardi, Raffaella; Bayat, Allan; Villeneuve, Nathalie; Molinari, Florence; Dafsari, Hormos Salimi; Moller, Birk; Le Roux, Marie; Houdayer, Clara; Vecchi, Marilena; Mammi, Isabella; Fiorini, Elena; Proietti, Jacopo; Ferri, Sofia; Cantalupo, Gaetano; Battaglia, Domenica Immacolata; Gambardella, Maria Luigia; Contaldo, Ilaria; Brogna, Claudia; Trivisano, Marina; De Dominicis, Angela; Bova, Stefania Maria; Gardella, Elena; Striano, Pasquale; Coppola, Antonietta

TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2023-10-01

OAAI

Jensen, Marlene Richter; Jelsig, Anne Marie; Gerdes, Anne-Marie; Holmich, Lisbet Rosenkrantz; Kainu, Kati Hannele; Lorentzen, Henrik Frank; Hansen, Mary Hojgaard; Bak, Mads; Johansson, Peter A.; Hayward, Nicholas K.; Hansen, Thomas Van Overeem; Wadt, Karin A. W.

Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors

NEURO-ONCOLOGY

IF13.4

2023-04-06

PREAI

Stoltze, Ulrik Kristoffer; Foss-Skiftesvik, Jon; Hansen, Thomas van Overeem; Byrjalsen, Anna; Sehested, Astrid; Scheie, David; Mikkelsen, Torben Stamm; Rasmussen, Simon; Bak, Mads; Okkels, Henrik; Callesen, Michael Thude; Skjoth-Rasmussen, Jane; Gerdes, Anne-Marie; Schmiegelow, Kjeld; Mathiasen, Rene; Wadt, Karin

A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2023-02-03

PREAI

Eiberg, Hans; Olsson, Josephine B.; Bak, Mads; Bang-Berthelsen, Claus Heiner; Troelsen, Jesper T.; Hansen, Lars

Identification and analysis of deletion breakpoints in four Mohr-TranebjÆrg syndrome (MTS) patients

SCIENTIFIC REPORTS

IF3.9

2022-09-02

OAAI

Rendtorff, Nanna Dahl; Karstensen, Helena Gasdal; Lodahl, Marianne; Tolmie, John; McWilliam, Catherine; Bak, Mads; Tommerup, Niels; Nazaryan-Petersen, Lusine; Kunst, Henricus; Wong, Melanie; Joss, Shelagh; Carelli, Valerio; Tranebjaerg, Lisbeth

DNA methylation episignature in Gabriele-de Vries syndrome Gabriele-de Vries综合征的DNA甲基化表征

GENETICS IN MEDICINE

IF6.2

2022-04-01

OAAI

Cherik, Florian; Reilly, Jack; Kerkhof, Jennifer; Levy, Michael; McConkey, Haley; Barat-Houari, Mouna; Butler, Kameryn M.; Coubes, Christine; Lee, Jennifer A.; Le Guyader, Gwenael; Louie, Raymond J.; Patterson, Wesley G.; Tedder, Matthew L.; Bak, Mads; Hammer, Trine Bjorg; Craigen, William; Demurger, Florence; Dubourg, Christele; Fradin, Melanie; Franciskovich, Rachel; Frengen, Eirik; Friedman, Jennifer; Palares, Nathalie Ruiz; Iascone, Maria; Misceo, Doriana; Monin, Pauline; Odent, Sylvie; Philippe, Christophe; Rouxel, Flavien; Saletti, Veronica; Stromme, Petter; Thulin, Perla Cassayre; Sadikovic, Bekim; Genevieve, David

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (vol 17, e1009679, 2021)基因组变异的综合分析揭示了候选单倍体不足基因与先天性心脏病的新关联 (第17卷，e1009679，2021)

PLOS GENETICS

IF3.7

2021-09-21

OAAI

Audain, Enrique; Wilsdon, Anna; Breckpot, Jeroen; Izarzugaza, Jose M. G.; Fitzgerald, Tomas W.; Kahlert, Anne-Karin; Sifrim, Alejandro; Wunnemann, Florian; Perez-Riverol, Yasset; Abdul-Khaliq, Hashim; Bak, Mads; Bassett, Anne S.; Benson, D. Woodrow; Berger, Felix; Daehnert, Ingo; Devriendt, Koenraad; Dittrich, Sven; Daubeney, Piers E. F.; Garg, Vidu; Hackmann, Karl; Hoff, Kirstin; Hofmann, Philipp; Dombrowsky, Gregor; Pickardt, Thomas; Bauer, Ulrike; Keavney, Bernard D.; Klaassen, Sabine; Kramer, Hans-Heiner; Marshall, Christian R.; Milewicz, Dianna M.; Lemaire, Scott; Coselli, Joseph S.; Mitchell, Michael E.; Tomita-Mitchell, Aoy; Prakash, Siddharth K.; Stamm, Karl; Stewart, Alexandre F. R.; Silversides, Candice K.; Siebert, Reiner; Stiller, Brigitte; Rosenfeld, Jill A.; Vater, Inga; Postma, Alex V.; Caliebe, Almuth; Brook, J. David; Andelfinger, Gregor; Hurles, Matthew E.; Thienpont, Bernard; Larsen, Lars Allan; Hitz, Marc-Phillip

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in theLMX1BGene

MOVEMENT DISORDERS

IF7.6

2020-09-19

OAAI

Bech, Sara; Lokkegaard, Annemette; Nielsen, Troels T.; Norremolle, Anne; Gronborg, Sabine; Hasholt, Lis; Steffensen, Gudrun K.; Graehn, Gabor; Olesen, Jess H.; Tommerup, Niels; Mang, Yuan; Bak, Mads; Nielsen, Jorgen E.; Eiberg, Hans; Hjermind, Lena E.

Mitochondrial dysfunction induced by variation in the non-coding genome - A proposed workflow to improve diagnostics

Mitochondrion

IF4.5

2020-07-01

PREAI

du Mee, Dorine Jeanne Mariette; Bak, Mads; Ostergaard, Elsebet; Rasmussen, Lene Juel

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

HUMAN MUTATION

IF3.7

2019-05-14

OAAI

Nazaryan-Petersen, Lusine; Oliveira, Ines R.; Mehrjouy, Mana M.; Mendez, Juan M. M.; Bak, Mads; Bugge, Merete; Kalscheuer, Vera M.; Bache, Iben; Hancks, Dustin C.; Tommerup, Niels

Haploinsufficiency of ARHGAP42 is associated with hypertension

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2019-03-21

OAAI

Fjorder, Amanda S.; Rasmussen, Malene B.; Mehrjouy, Mana M.; Nazaryan-Petersen, Lusine; Hansen, Claus; Bak, Mads; Grarup, Niels; Norremolle, Anne; Larsen, Lars A.; Vestergaard, Henrik; Hansen, Torben; Tommerup, Niels; Bache, Iben

Aggressiveness of non-EMT breast cancer cells relies on FBXO11 activity

MOLECULAR CANCER

IF33.9

2018-12-10

OAAI

Bagger, Sofie Otzen; Hopkinson, Branden Michael; Pandey, Deo Prakash; Bak, Mads; Brydholm, Andreas Vincent; Villadsen, Rene; Helin, Kristian; Ronnov-Jessen, Lone; Petersen, Ole William; Kim, Jiyoung

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

PLOS GENETICS

IF3.7

2018-11-12

OAAI

Nazaryan-Petersen, Lusine; Eisfeldt, Jesper; Pettersson, Maria; Lundin, Johanna; Nilsson, Daniel; Wincent, Josephine; Lieden, Agne; Lovmar, Lovisa; Ottosson, Jesper; Gacic, Jelena; Makitie, Outi; Nordgren, Ann; Vezzi, Francesco; Wirta, Valtteri; Kaller, Max; Hjortshoj, Tina Duelund; Jespersgaard, Cathrine; Houssari, Rayan; Pignata, Laura; Bak, Mads; Tommerup, Niels; Lundberg, Elisabeth Syk; Tumer, Zeynep; Lindstrand, Anna

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-06-01

OAAI

Halgren, Christina; Nielsen, Nete M.; Nazaryan-Petersen, Lusine; Silahtaroglu, Asli; Collins, Ryan L.; Lowther, Chelsea; Kjaergaard, Susanne; Frisch, Morten; Kirchhoff, Maria; Brondum-Nielsen, Karen; Lind-Thomsen, Allan; Mang, Yuan; El-Schich, Zahra; Boring, Claire A.; Mehrjouy, Mana M.; Jensen, Peter K. A.; Fagerberg, Christina; Krogh, Lotte N.; Hansen, Jan; Bryndorf, Thue; Hansen, Claus; Talkowski, Michael E.; Bak, Mads; Tommerup, Niels; Bache, Iben

研究方向