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Milan Maçek

ResearcherPublications, citations & collaboration network

Milan Maçek is a researcher indexed in ScholarIQ from OpenAlex & ORCID.

How many works does Milan Maçek have?

ScholarIQindexed works

Milan Maçek has 419 works in the ScholarIQ index. The count is the OpenAlex total, not the number of papers listed on this page.

How many citations does Milan Maçek have?

ScholarIQcitation count

Milan Maçek has 20,431 citations in the OpenAlex counts ScholarIQ stores.

What is the h-index of Milan Maçek?

ScholarIQh-index

Milan Maçek has an h-index of 61 in OpenAlex.

What is the i10-index of Milan Maçek?

ScholarIQi10-index

Milan Maçek has an i10-index of 175 in OpenAlex.

What is the ORCID of Milan Maçek?

ScholarIQorcid

The ORCID for Milan Maçek is on the source record.

What is the OpenAlex record for Milan Maçek?

ScholarIQopenalex

The OpenAlex for Milan Maçek is on the source record.

What are the most-cited papers on Milan Maçek?

ScholarIQmost cited works
Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening
Joseph L. Bobadilla, Milan Maçek, Jason P. Fine, Philip M. Farrell
Human Mutation. 20021,026 Citations
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Kym M. Boycott, Ana Rath, Jessica X. Chong, Taila Hartley, Fowzan S. Alkuraya, Gareth Baynam, Anthony J. Brookes, Michael Brudno, Ángel Carracedo, Johan T. den Dunnen, Stephanie O. M. Dyke, Xavier Estivill, Jack Goldblatt, Catherine Gonthier, Stephen C. Groft, Marta Gut, Ada Hamosh, Philip Hieter, Sophie Höhn, Matthew E. Hurles, Petra Kaufmann, Bartha Maria Knoppers, Jeffrey P. Krischer, Milan Maçek, Gert Matthijs, Annie Olry, Samantha Parker, Justin Paschall, Anthony Philippakis, Heidi L. Rehm, Peter N. Robinson, Pak C. Sham, Румен Стефанов, Domenica Taruscio, Divya Unni, Megan R. Vanstone, Feng Zhang, Han G. Brunner, Michael J. Bamshad, Hanns Lochmüller
The American Journal of Human Genetics. 2017465 CitationsOPEN ACCESS
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis
Jonas Rosendahl, Heiko Witt, Richárd Szmola, Eesh Bhatia, Béla Ózsvári, Olfert Landt, Hans-Ulrich Schulz, Thomas M. Gress, Roland H. Pfützer, Matthias Löhr, Péter Kovács, Matthias Blüher, Michael Stümvoll, Gourdas Choudhuri, Péter Hegyi, René HM te Morsche, Joost P.H. Drenth, Kaspar Truninger, Milan Maçek, Gero Puhl, Ulrike Witt, Hartmut Schmidt, Carsten Büning, Johann Ockenga, Andreas Kage, David A. Groneberg, Renate Nickel, Thomas Berg, Bertram Wiedenmann, Hans Bödeker, Volker Keim, Joachim Mössner, Niels Teich, Miklós Sahin‐Tóth
Nature Genetics. 2007438 CitationsOPEN ACCESS
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
Núria Morral, Jaume Bertranpetit, Xavier Estivill, Virginia Nunes, Teresa Casals, Juliette Gimenez, André Reis, Raymonda Varon-Mateeva, Milan Maçek, Luba Kalaydjieva, Dora Angelicheva, R. Dancheva, G. Romeo, Maria Pia Russo, S. Garnerone, Gabriella Restagno, Maurizio Ferrari, Carmelina Magnani, Mireille Claustres, Marie Desgeorges, M. Schwartz, Martin Schwarz, Bruno Dallapiccola, Giuseppe Novelli, Claude Férec, M. De Arce, M Németi, Juha Kere, Maria Anvret, Niklas Dahl, L Kádasi
Nature Genetics. 1994349 Citations
Variants in CPA1 are strongly associated with early onset chronic pancreatitis
Heiko Witt, Sebastian Beer, Jonas Rosendahl, Jian‐Min Chen, Giriraj R. Chandak, Atsushi Masamune, Melinda Bence, Richárd Szmola, Grzegorz Oracz, Milan Maçek, Eesh Bhatia, Sandra Steigenberger, Denise Lasher, Florence Bühler, Catherine Delaporte, Johanna Tebbing, Maren Ludwig, Claudia Pilsak, Karolin Saum, Peter Bugert, Emmanuelle Masson, Sumit Paliwal, Seema Bhaskar, Agnieszka Sobczyńska‐Tomaszewska, Daniel Bąk, Ivan Balaščák, Gourdas Choudhuri, D. Nageshwar Reddy, G.V. Rao, Varghese Thomas, Kiyoshi Kume, Eriko Nakano, Yoichi Kakuta, Tooru Shimosegawa, Łukasz Durko, András Szabó, Andrea Schnúr, Péter Hegyi, Zoltán Rakonczay, Roland H. Pfützer, Alexander Schneider, David A. Groneberg, Markus Braun, Hartmut Schmidt, Ulrike Witt, Helmut Frieß, Hana Algül, Olfert Landt, Markus Schuelke, Renate Krüger, Bertram Wiedenmann, Frank Schmidt, Klaus‐Peter Zimmer, Péter Kovács, Michael Stümvoll, Matthias Blüher, Thomas Müller, Andreas Janecke, Niels Teich, Robert Grützmann, Hans-Ulrich Schulz, Joachim Mössner, Volker Keim, Matthias Löhr, Claude Férec, Miklós Sahin‐Tóth
Nature Genetics. 2013304 CitationsOPEN ACCESS

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