Raidt, Johanna; Riepenhausen, Sarah; Amirav, Israel; Athanazio, Rodrigo A.; Aviram, Micha; Balinotti, Juan E.; Bar-On, Ophir; Bode, Sebastian Fn; Boon, Mieke; Borrelli, Melissa; Carr, Siobhan B.; Crowley, Suzanne; Dehlink, Eleonora; Diepenhorst, Sandra; Durdik, Peter; Dworniczak, Bernd; Emiralioglu, Nagehan; Erdem, Ela; Fonnesu, Rossella; Gracci, Serena; Grosse-Onnebrink, Joerg; Gwozdziewicz, Karolina; Haarman, Eric G.; Hansen, Christine R.; Hogg, Claire; Holgersen, Mathias G.; Julian, Varghese; Kerem, Eitan; Korner, Robert W.; Kotz, Karsten; Kouis, Panayiotis; Loebinger, Michael R.; Lorent, Natalie; Lucas, Jane S.; Maj, Debora; Mall, Marcus A.; Marthin, June K.; Martinu, Vendula; Mazurek, Henryk; Mitchison, Hannah M.; Noethe-Menchen, Tabea; Olbrich, Heike; Ozcelik, Ugur; Pennekamp, Petra; Pifferi, Massimo; Pogorzelski, Andrzej; Ringshausen, Felix C.; Roehmel, Jobst F.; Rovira-Amigo, Sandra; Rumman, Nisreen; Schlegtendal, Anne; Shoemark, Amelia; Kennelly, Synne Sperstad; Staar, Ben; Sutharsan, Sivagurunathan; Thomas, Simon; Ullmann, Nicola; Von Hardenberg, Sandra; Walker, Woolf; Wetzke, Martin; Witt, Michal; Yiallouros, Panayiotis; Zietkiewicz, Ewa; Nielsen, Kim G.; Omran, Heymut

Sex contribution to average age at onset of Huntington's disease depends on the number of (CAG)n repeats

SCIENTIFIC REPORTS

IF3.9

2024-07-081

OAAI

Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin

HUMAN MUTATION

IF3.7

2024-03-210

OAAI

Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.

EUROPEAN RESPIRATORY JOURNAL

IF21

2023-10-270

Crowley, Suzanne; Hankey, William; Elnagheeb, Marwa; Mani, Rahma; Benito, Maria-Ines; Soliman, Rasha; Gomes, Mafalda De Almeida; Ing, Alexander; Abdelwahab, Sabri; Worley, Lindsay; Mcnulty, Shannon; Siew, Justine; Thaxton, Courtney Lynn; Loucks, Catrina M.; Thomas, Simon; Zariwala, Maimoona; Leigh, Margaret; Morris-Rosendahl, Deborah; Zietkiewicz, Ewa; Dell, Sharon; Gaston, Ben; Dworniczak, Bernd; Hirst, Robert; Raidt, Johanna; Nykamp, Keith; Hannah, William; Fassad, Mahmoud; Shoemark, Amelia; Legendre, Marie; Mitchison, Hannah

The hero of American and Polish nations: a molecular look at Thaddeus Kosciuszko's cause of death suggests a contribution of endocarditis caused by Cutibacterium acnes infection

MICROBIAL CELL FACTORIES

IF4.9

2022-11-230

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife

KIDNEY INTERNATIONAL

IF12.6

2021-06-0123

OAAI

Zurowska, Aleksandra M.; Bielska, Olga; Daca-Roszak, Patrycja; Jankowski, Maciej; Szczepanska, Maria; Roszkowska-Bjanid, Dagmara; Kuzma-Mroczkowska, Elzbieta; Panczyk-Tomaszewska, Malgorzata; Moczulska, Anna; Drozdz, Dorota; Hadjipanagi, Despina; Deltas, Constantinos; Ostalska-Nowicka, Danuta; Rabiega, Alina; Taraszkiewicz, Janina; Taranta-Janusz, Katarzyna; Wieczorkiewicz-Plaza, Anna; Jobs, Katarzyna; Mews, Judyta; Musial, Kinga; Jakubowska, Anna; Nosek, Hanna; Jander, Anna E.; Koutsofti, Constantina; Stanislawska-Sachadyn, Anna; Kuleszo, Dominka; Zietkiewicz, Ewa; Lipska-Zietkiewicz, Beata S.

Discrimination between human populations using a small number of differentially methylated CpG sites: a preliminary study using lymphoblastoid cell lines and peripheral blood samples of European and Chinese origin

BMC GENOMICS

IF3.7

2020-10-127

OAAI

CFAP300: Mutations in Slavic Patients with Primary Ciliary Dyskinesia and a Role in Ciliary Dynein Arms Trafficking

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

IF5.3

2019-10-0117

PREAI

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms

JOURNAL OF MEDICAL GENETICS