Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Niki T. Loges; Dinu Antony; Ales Maver; Matthew A. Deardorff; Elif Yylmaz Gulec; Alper Gezdirici; Tabea Noethe-Menchen; Inga M. Hoeben; Lena Jelten; Diana Frank; Claudius Werner; Johannes Tebbe; Kaman Wu; Elizabeth Goldmuntz; Goran Cuturilo; Bryan Krock; Alyssa Ritter; Rim Hjeij; Zeineb Bakey; Petra Pennekamp; Bernd Dworniczak; Han Brunner; Borut Peterlin; Cansaran Tanidir; Heike Olbrich; Heymut Omran; Miriam Schmidts

doi:10.1016/j.ajhg.2018.10.020

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Niki T. Loges, Dinu Antony, Ales Maver, Matthew A. Deardorff, Elif Yylmaz Gulec, Alper Gezdirici, Tabea Noethe-Menchen, Inga M. Hoeben, Lena Jelten, Diana Frank, Claudius Werner, Johannes Tebbe, Kaman Wu, Elizabeth Goldmuntz, Goran Cuturilo, Bryan Krock, Alyssa Ritter, Rim Hjeij, Zeineb Bakey, Petra PennekampBernd Dworniczak, Han Brunner, Borut Peterlin, Cansaran Tanidir, Heike Olbrich, Heymut Omran, Miriam Schmidts

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	995-1008
Number of pages	14
Journal	American Journal of Human Genetics
Volume	103
Issue number	6
DOIs	https://doi.org/10.1016/j.ajhg.2018.10.020
Publication status	Published - 6 Dec 2018

Keywords

LEFT-RIGHT ASYMMETRY
BODY ASYMMETRY
COMMON-CAUSE
DYSKINESIA
OUTER
RANDOMIZATION
HETEROTAXY
HEART
NEPHRONOPHTHISIS
IDENTIFICATION

Cite this

Loges, N. T., Antony, D., Maver, A., Deardorff, M. A., Gulec, E. Y., Gezdirici, A., Noethe-Menchen, T., Hoeben, I. M., Jelten, L., Frank, D., Werner, C., Tebbe, J., Wu, K., Goldmuntz, E., Cuturilo, G., Krock, B., Ritter, A., Hjeij, R., Bakey, Z., ... Schmidts, M. (2018). Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. American Journal of Human Genetics, 103(6), 995-1008. https://doi.org/10.1016/j.ajhg.2018.10.020

Loges, Niki T. ; Antony, Dinu ; Maver, Ales ; Deardorff, Matthew A. ; Gulec, Elif Yylmaz ; Gezdirici, Alper ; Noethe-Menchen, Tabea ; Hoeben, Inga M. ; Jelten, Lena ; Frank, Diana ; Werner, Claudius ; Tebbe, Johannes ; Wu, Kaman ; Goldmuntz, Elizabeth ; Cuturilo, Goran ; Krock, Bryan ; Ritter, Alyssa ; Hjeij, Rim ; Bakey, Zeineb ; Pennekamp, Petra ; Dworniczak, Bernd ; Brunner, Han ; Peterlin, Borut ; Tanidir, Cansaran ; Olbrich, Heike ; Omran, Heymut ; Schmidts, Miriam. / Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. In: American Journal of Human Genetics. 2018 ; Vol. 103, No. 6. pp. 995-1008.

@article{8806f7fd6b964dfa9075088cfb14cb01,

title = "Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects",

keywords = "LEFT-RIGHT ASYMMETRY, BODY ASYMMETRY, COMMON-CAUSE, DYSKINESIA, OUTER, RANDOMIZATION, HETEROTAXY, HEART, NEPHRONOPHTHISIS, IDENTIFICATION",

author = "Loges, {Niki T.} and Dinu Antony and Ales Maver and Deardorff, {Matthew A.} and Gulec, {Elif Yylmaz} and Alper Gezdirici and Tabea Noethe-Menchen and Hoeben, {Inga M.} and Lena Jelten and Diana Frank and Claudius Werner and Johannes Tebbe and Kaman Wu and Elizabeth Goldmuntz and Goran Cuturilo and Bryan Krock and Alyssa Ritter and Rim Hjeij and Zeineb Bakey and Petra Pennekamp and Bernd Dworniczak and Han Brunner and Borut Peterlin and Cansaran Tanidir and Heike Olbrich and Heymut Omran and Miriam Schmidts",

year = "2018",

month = dec,

day = "6",

doi = "10.1016/j.ajhg.2018.10.020",

language = "English",

volume = "103",

pages = "995--1008",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "6",

}

Loges, NT, Antony, D, Maver, A, Deardorff, MA, Gulec, EY, Gezdirici, A, Noethe-Menchen, T, Hoeben, IM, Jelten, L, Frank, D, Werner, C, Tebbe, J, Wu, K, Goldmuntz, E, Cuturilo, G, Krock, B, Ritter, A, Hjeij, R, Bakey, Z, Pennekamp, P, Dworniczak, B, Brunner, H, Peterlin, B, Tanidir, C, Olbrich, H, Omran, H & Schmidts, M 2018, 'Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects', American Journal of Human Genetics, vol. 103, no. 6, pp. 995-1008. https://doi.org/10.1016/j.ajhg.2018.10.020

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. / Loges, Niki T.; Antony, Dinu; Maver, Ales; Deardorff, Matthew A.; Gulec, Elif Yylmaz; Gezdirici, Alper; Noethe-Menchen, Tabea; Hoeben, Inga M.; Jelten, Lena; Frank, Diana; Werner, Claudius; Tebbe, Johannes; Wu, Kaman; Goldmuntz, Elizabeth; Cuturilo, Goran; Krock, Bryan; Ritter, Alyssa; Hjeij, Rim; Bakey, Zeineb; Pennekamp, Petra; Dworniczak, Bernd; Brunner, Han; Peterlin, Borut; Tanidir, Cansaran; Olbrich, Heike; Omran, Heymut; Schmidts, Miriam.

In: American Journal of Human Genetics, Vol. 103, No. 6, 06.12.2018, p. 995-1008.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

AU - Loges, Niki T.

AU - Antony, Dinu

AU - Maver, Ales

AU - Deardorff, Matthew A.

AU - Gulec, Elif Yylmaz

AU - Gezdirici, Alper

AU - Noethe-Menchen, Tabea

AU - Hoeben, Inga M.

AU - Jelten, Lena

AU - Frank, Diana

AU - Werner, Claudius

AU - Tebbe, Johannes

AU - Wu, Kaman

AU - Goldmuntz, Elizabeth

AU - Cuturilo, Goran

AU - Krock, Bryan

AU - Ritter, Alyssa

AU - Hjeij, Rim

AU - Bakey, Zeineb

AU - Pennekamp, Petra

AU - Dworniczak, Bernd

AU - Brunner, Han

AU - Peterlin, Borut

AU - Tanidir, Cansaran

AU - Olbrich, Heike

AU - Omran, Heymut

AU - Schmidts, Miriam

PY - 2018/12/6

Y1 - 2018/12/6

KW - LEFT-RIGHT ASYMMETRY

KW - BODY ASYMMETRY

KW - COMMON-CAUSE

KW - DYSKINESIA

KW - OUTER

KW - RANDOMIZATION

KW - HETEROTAXY

KW - HEART

KW - NEPHRONOPHTHISIS

KW - IDENTIFICATION

U2 - 10.1016/j.ajhg.2018.10.020

DO - 10.1016/j.ajhg.2018.10.020

M3 - Article

VL - 103

SP - 995

EP - 1008

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 6

ER -

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10.1016/j.ajhg.2018.10.020Licence: CC BY