Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure

Raidt J; Krenz H; Tebbe J; Große-Onnebrink J; Olbrich H; Loges NT; Biebach L; Schmalstieg C; Keßler C; Wallmeier J; Dworniczak B; Pennekamp P; Dugas M; Werner C; Omran H (2022)
In: Annals of the American Thoracic Society, 19(8)
Type of Publication: Research article (journal)

Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies

Dahmer-Heath, M., V. Schriever, S. Kollmann, C. Schleithoff, A. Titieni, M. Cetiner, L. Patzer, B. Tönshoff, M. Hansen, P. Pennekamp, J. Gerß, M. Konrad and J. König (2021)
In: Journal of Medical Genetics, 58(9)
Type of Publication: Research article (journal)

The international primary ciliary dyskinesia (PCD) registry reports genotype/phenotype-correlations

Raidt J; Pennekamp P; Riepenhausen S; Krenz H; Helms S; Nöthe-Menchen T; Dworniczak B; Olbrich H; Loges NT; Große-Onnebrink J; Holgersen MG; Marthin JK; Nielsen KG; Dugas M; Omran H (2021)
In: European Respiratory Journal (eds.), Monitoring airway disease. online: .
Type of Publication: Research article in edited proceedings (conference)

SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics

Cindrić S, Dougherty GW, Olbrich H, Hjeij R, Loges NT, Amirav I, Philipsen MC, Marthin JK, Nielsen KG, Sutharsan S, Raidt J, Werner C, Pennekamp P, Dworniczak B, Omran H (2020)
In: American Journal of Respiratory Cell and Molecular Biology, 62(3)
Type of Publication: Research article (journal)

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H (2019)
In: American Journal of Human Genetics, 105(5)
Type of Publication: Research article (journal)

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Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure Raidt J; Krenz H; Tebbe J; Große-Onnebrink J; Olbrich H; Loges NT; Biebach L; Schmalstieg C; Keßler C; Wallmeier J; Dworniczak B; Pennekamp P; Dugas M; Werner C; Omran H (2022) In: Annals of the American Thoracic Society, 19(8) Type of Publication: Research article (journal)
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-Thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra JP, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M, NEOCYST consortium (2022) In: Kidney International Reports, 7(9) Type of Publication: Research article (journal)
Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies Dahmer-Heath, M., V. Schriever, S. Kollmann, C. Schleithoff, A. Titieni, M. Cetiner, L. Patzer, B. Tönshoff, M. Hansen, P. Pennekamp, J. Gerß, M. Konrad and J. König (2021) In: Journal of Medical Genetics, 58(9) Type of Publication: Research article (journal)
Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility. Aprea, Isabella; Raidt, Johanna; Höben, Inga Marlena; Loges, Niki Tomas; Nöthe-Menchen, Tabea; Pennekamp, Petra; Olbrich, Heike; Kaiser, Thomas; Biebach, Luisa; Tüttelmann, Frank; Horvath, Judit; Schubert, Maria; Krallmann, Claudia; Kliesch, Sabine; Omran, Heymut (2021) In: PLoS Genetics, 17(2) Type of Publication: Research article (journal)
The international primary ciliary dyskinesia (PCD) registry reports genotype/phenotype-correlations Raidt J; Pennekamp P; Riepenhausen S; Krenz H; Helms S; Nöthe-Menchen T; Dworniczak B; Olbrich H; Loges NT; Große-Onnebrink J; Holgersen MG; Marthin JK; Nielsen KG; Dugas M; Omran H (2021) In: European Respiratory Journal (eds.), Monitoring airway disease. online: . Type of Publication: Research article in edited proceedings (conference)
Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system. Aprea, Isabella; Nöthe-Menchen, Tabea; Dougherty, Gerard W; Raidt, Johanna; Loges, Niki T; Kaiser, Thomas; Wallmeier, Julia; Ulbrich, Heike; Strünker, Timo; Kliesch, Sabine; Pennekamp, Petra; Omran, Heymut (2021) In: Molecular Human Reproduction, 27(3) Type of Publication: Research article (journal)
SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics Cindrić S, Dougherty GW, Olbrich H, Hjeij R, Loges NT, Amirav I, Philipsen MC, Marthin JK, Nielsen KG, Sutharsan S, Raidt J, Werner C, Pennekamp P, Dworniczak B, Omran H (2020) In: American Journal of Respiratory Cell and Molecular Biology, 62(3) Type of Publication: Research article (journal)
Registries and collaborative studies for primary ciliary dyskinesia in Europe Ardura-Garcia C, Goutaki M, Carr SB, Crowley S, Halbeisen FS, Nielsen KG, Pennekamp P, Raidt J, Thouvenin G, Yiallouros PK, Omran H, Kuehni CE (2020) In: ERJ Open Research, 6(2) Type of Publication: Research article (journal)
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H (2019) In: American Journal of Human Genetics, 105(5) Type of Publication: Research article (journal)
Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice Nöthe-Menchen T, Wallmeier J, Pennekamp P, Höben IM, Olbrich H, Loges NT, Raidt J, Dougherty GW, Hjeij R, Dworniczak B, Omran H (2019) In: Circulation: Genomic and Precision Medicine, 3 Type of Publication: Research article (journal)