Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Saskia Wortmann; Szymon Ziętkiewicz; Sergio Guerrero-Castillo; René Feichtinger; Matias Wagner; Jacqui Russell; Carolyn Ellaway; Dagmara Mróz; Hubert Wyszkowski; Denisa Weis; Iris Hannibal; Celina von Stülpnagel; Alfredo Cabrera-Orefice; Uta Lichter-Konecki; Jenna Gaesser; Randy Windreich; Kasiani C Myers; Robert Lorsbach; Russell C Dale; Søren Gersting; Carlos E Prada; John Christodoulou; Nicole I Wolf; Hanka Venselaar; Johannes A. Mayr; Ron A Wevers

doi:10.1038/s41436-021-01194-x

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Saskia Wortmann^* (First author)
, Szymon Ziętkiewicz
, Sergio Guerrero-Castillo
, René Feichtinger (Co-author)
, Matias Wagner
, Jacqui Russell
, Carolyn Ellaway
, Dagmara Mróz
, Hubert Wyszkowski
, Denisa Weis
, Iris Hannibal
, Celina von Stülpnagel (Co-author)
, Alfredo Cabrera-Orefice
, Uta Lichter-Konecki
, Jenna Gaesser
, Randy Windreich
, Kasiani C Myers
, Robert Lorsbach
, Russell C Dale
, Søren Gersting

Carlos E Prada, John Christodoulou, Nicole I Wolf, Hanka Venselaar, Johannes A. Mayr (Co-author), Ron A Wevers

^*Corresponding author for this work

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

30 Citations (Web of Science)

Original language	English
Pages (from-to)	1705-1714
Journal	GENETICS IN MEDICINE
Volume	23
Issue number	9
DOIs	https://doi.org/10.1038/s41436-021-01194-x
Publication status	Published - 2021

Keywords

PROTEIN
MUTATIONS
SUBSTRATE
DOMAIN
HSP104

Access to Document

10.1038/s41436-021-01194-x

Cite this

Wortmann, S., Ziętkiewicz, S., Guerrero-Castillo, S., Feichtinger, R., Wagner, M., Russell, J., Ellaway, C., Mróz, D., Wyszkowski, H., Weis, D., Hannibal, I., von Stülpnagel, C., Cabrera-Orefice, A., Lichter-Konecki, U., Gaesser, J., Windreich, R., Myers, K. C., Lorsbach, R., Dale, R. C., ... Wevers, R. A. (2021). Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. GENETICS IN MEDICINE , 23(9), 1705-1714. https://doi.org/10.1038/s41436-021-01194-x

Wortmann, Saskia ; Ziętkiewicz, Szymon ; Guerrero-Castillo, Sergio et al. / Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. In: GENETICS IN MEDICINE 2021 ; Vol. 23, No. 9. pp. 1705-1714.

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title = "Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.",

keywords = "PROTEIN, MUTATIONS, SUBSTRATE, DOMAIN, HSP104",

author = "Saskia Wortmann and Szymon Zi{\c e}tkiewicz and Sergio Guerrero-Castillo and Ren{\'e} Feichtinger and Matias Wagner and Jacqui Russell and Carolyn Ellaway and Dagmara Mr{\'o}z and Hubert Wyszkowski and Denisa Weis and Iris Hannibal and \{von St{\"u}lpnagel\}, Celina and Alfredo Cabrera-Orefice and Uta Lichter-Konecki and Jenna Gaesser and Randy Windreich and Myers, \{Kasiani C\} and Robert Lorsbach and Dale, \{Russell C\} and S{\o}ren Gersting and Prada, \{Carlos E\} and John Christodoulou and Wolf, \{Nicole I\} and Hanka Venselaar and Mayr, \{Johannes A.\} and Wevers, \{Ron A\}",

note = "Wortmann; Feichtinger; Mayr: University Children{\textquoteright}s Hospital, Paracelsus Medical University (PMU) Salzburg Austria; von St{\"u}lpnagel: Institute for Transition, Rehabilitation and Palliation Paracelsus Medical University Salzburg Austria",

year = "2021",

doi = "10.1038/s41436-021-01194-x",

language = "English",

volume = "23",

pages = "1705--1714",

journal = "GENETICS IN MEDICINE ",

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Wortmann, S, Ziętkiewicz, S, Guerrero-Castillo, S, Feichtinger, R, Wagner, M, Russell, J, Ellaway, C, Mróz, D, Wyszkowski, H, Weis, D, Hannibal, I, von Stülpnagel, C, Cabrera-Orefice, A, Lichter-Konecki, U, Gaesser, J, Windreich, R, Myers, KC, Lorsbach, R, Dale, RC, Gersting, S, Prada, CE, Christodoulou, J, Wolf, NI, Venselaar, H, Mayr, JA & Wevers, RA 2021, 'Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.', GENETICS IN MEDICINE , vol. 23, no. 9, pp. 1705-1714. https://doi.org/10.1038/s41436-021-01194-x

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. / Wortmann, Saskia (First author); Ziętkiewicz, Szymon; Guerrero-Castillo, Sergio et al.
In: GENETICS IN MEDICINE , Vol. 23, No. 9, 2021, p. 1705-1714.

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

TY - JOUR

T1 - Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

AU - Wortmann, Saskia

AU - Ziętkiewicz, Szymon

AU - Guerrero-Castillo, Sergio

AU - Feichtinger, René

AU - Wagner, Matias

AU - Russell, Jacqui

AU - Ellaway, Carolyn

AU - Mróz, Dagmara

AU - Wyszkowski, Hubert

AU - Weis, Denisa

AU - Hannibal, Iris

AU - von Stülpnagel, Celina

AU - Cabrera-Orefice, Alfredo

AU - Lichter-Konecki, Uta

AU - Gaesser, Jenna

AU - Windreich, Randy

AU - Myers, Kasiani C

AU - Lorsbach, Robert

AU - Dale, Russell C

AU - Gersting, Søren

AU - Prada, Carlos E

AU - Christodoulou, John

AU - Wolf, Nicole I

AU - Venselaar, Hanka

AU - Mayr, Johannes A.

AU - Wevers, Ron A

N1 - Wortmann; Feichtinger; Mayr: University Children’s Hospital, Paracelsus Medical University (PMU) Salzburg Austria; von Stülpnagel: Institute for Transition, Rehabilitation and Palliation Paracelsus Medical University Salzburg Austria

PY - 2021

Y1 - 2021

KW - PROTEIN

KW - MUTATIONS

KW - SUBSTRATE

KW - DOMAIN

KW - HSP104

U2 - 10.1038/s41436-021-01194-x

DO - 10.1038/s41436-021-01194-x

M3 - Original Article

C2 - 34140661

SN - 1098-3600

VL - 23

SP - 1705

EP - 1714

JO - GENETICS IN MEDICINE

JF - GENETICS IN MEDICINE

IS - 9

ER -

Wortmann S, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger R, Wagner M, Russell J et al. Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. GENETICS IN MEDICINE . 2021;23(9):1705-1714. doi: 10.1038/s41436-021-01194-x