Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

Franziska Langhammer; Reza Maroofian; Rueda Badar; Anne Gregor; Michelle Rochman; Jeffrey B. Ratliff; Marije Koopmans; Theresia Herget; Maja Hempel; Fanny Kortüm; Delphine Heron; Cyril Mignot; Boris Keren; Susan Brooks; Christina Botti; Bruria Ben-Zeev; Emanuela Argilli; Elliot H. Sherr; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Somayeh Bakhtiari; Michael C. Kruer; Mustafa A. Salih; Alma Kuechler; Eric A. Muller; Karli Blocker; Outi Kuismin; Kristen L. Park; Aaina Kochhar; Kathleen Brown; Subhadra Ramanathan; Robin D. Clark; Magdeldin Elgizouli; Gia Melikishvili; Nazhi Tabatadze; Zornitza Stark; Ghayda M. Mirzaa; Jinfon Ong; Ute Grasshoff; Andrea Bevot; Lydia von Wintzingerode; Rami A. Jamra; Yvonne Hennig; Paula Goldenberg; Chadi Al Alam; Majida Charif; Redouane Boulouiz; Mohammed Bellaoui; Rim Amrani; Fuad Al Mutairi; Abdullah M. Tamim; Firdous Abdulwahab; Fowzan S. Alkuraya; Ebtissal M. Khouj; Javeria R. Alvi; Tipu Sultan; Narges Hashemi; Ehsan G. Karimiani; Farah Ashrafzadeh; Shima Imannezhad; Stephanie Efthymiou; Henry Houlden; Heinrich Sticht; Christiane Zweier

doi:10.1016/j.gim.2023.100885

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

Franziska Langhammer
, Reza Maroofian
, Rueda Badar
, Anne Gregor
, Michelle Rochman
, Jeffrey B. Ratliff
, Marije Koopmans
, Theresia Herget
, Maja Hempel
, Fanny Kortüm
, Delphine Heron
, Cyril Mignot
, Boris Keren
, Susan Brooks
, Christina Botti
, Bruria Ben-Zeev
, Emanuela Argilli
, Elliot H. Sherr
, Vykuntaraju K. Gowda
, Varunvenkat M. Srinivasan

Somayeh Bakhtiari, Michael C. Kruer, Mustafa A. Salih, Alma Kuechler, Eric A. Muller, Karli Blocker, Outi Kuismin, Kristen L. Park, Aaina Kochhar, Kathleen Brown, Subhadra Ramanathan, Robin D. Clark, Magdeldin Elgizouli, Gia Melikishvili, Nazhi Tabatadze, Zornitza Stark, Ghayda M. Mirzaa, Jinfon Ong, Ute Grasshoff, Andrea Bevot, Lydia von Wintzingerode, Rami A. Jamra, Yvonne Hennig, Paula Goldenberg, Chadi Al Alam, Majida Charif, Redouane Boulouiz, Mohammed Bellaoui, Rim Amrani, Fuad Al Mutairi, Abdullah M. Tamim, Firdous Abdulwahab, Fowzan S. Alkuraya, Ebtissal M. Khouj, Javeria R. Alvi, Tipu Sultan, Narges Hashemi, Ehsan G. Karimiani, Farah Ashrafzadeh, Shima Imannezhad, Stephanie Efthymiou, Henry Houlden, Heinrich Sticht, Christiane Zweier

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

Original language	English
Article number	100885
Journal	Genetics in Medicine
Volume	25
Issue number	8
DOIs	https://doi.org/10.1016/j.gim.2023.100885
State	Published - Aug 2023

ASJC Scopus Subject Areas

Genetics(clinical)

Keywords

Developmental and epileptic encephalopathy
Intellectual disability
Neurodevelopmental disorder
RHOBTB2
Seizures

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10.1016/j.gim.2023.100885

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Langhammer, F., Maroofian, R., Badar, R., Gregor, A., Rochman, M., Ratliff, J. B., Koopmans, M., Herget, T., Hempel, M., Kortüm, F., Heron, D., Mignot, C., Keren, B., Brooks, S., Botti, C., Ben-Zeev, B., Argilli, E., Sherr, E. H., Gowda, V. K., ... Zweier, C. (2023). Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders. Genetics in Medicine, 25(8), Article 100885. https://doi.org/10.1016/j.gim.2023.100885

Langhammer, F, Maroofian, R, Badar, R, Gregor, A, Rochman, M, Ratliff, JB, Koopmans, M, Herget, T, Hempel, M, Kortüm, F, Heron, D, Mignot, C, Keren, B, Brooks, S, Botti, C, Ben-Zeev, B, Argilli, E, Sherr, EH, Gowda, VK, Srinivasan, VM, Bakhtiari, S, Kruer, MC, Salih, MA, Kuechler, A, Muller, EA, Blocker, K, Kuismin, O, Park, KL, Kochhar, A, Brown, K, Ramanathan, S , Clark, RD, Elgizouli, M, Melikishvili, G, Tabatadze, N, Stark, Z, Mirzaa, GM, Ong, J, Grasshoff, U, Bevot, A, von Wintzingerode, L, Jamra, RA, Hennig, Y, Goldenberg, P, Al Alam, C, Charif, M, Boulouiz, R, Bellaoui, M, Amrani, R, Al Mutairi, F, Tamim, AM, Abdulwahab, F, Alkuraya, FS, Khouj, EM, Alvi, JR, Sultan, T, Hashemi, N, Karimiani, EG, Ashrafzadeh, F, Imannezhad, S, Efthymiou, S, Houlden, H, Sticht, H & Zweier, C 2023, 'Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders', Genetics in Medicine, vol. 25, no. 8, 100885. https://doi.org/10.1016/j.gim.2023.100885

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title = "Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders",

keywords = "Developmental and epileptic encephalopathy, Intellectual disability, Neurodevelopmental disorder, RHOBTB2, Seizures",

author = "Franziska Langhammer and Reza Maroofian and Rueda Badar and Anne Gregor and Michelle Rochman and Ratliff, \{Jeffrey B.\} and Marije Koopmans and Theresia Herget and Maja Hempel and Fanny Kort{\"u}m and Delphine Heron and Cyril Mignot and Boris Keren and Susan Brooks and Christina Botti and Bruria Ben-Zeev and Emanuela Argilli and Sherr, \{Elliot H.\} and Gowda, \{Vykuntaraju K.\} and Srinivasan, \{Varunvenkat M.\} and Somayeh Bakhtiari and Kruer, \{Michael C.\} and Salih, \{Mustafa A.\} and Alma Kuechler and Muller, \{Eric A.\} and Karli Blocker and Outi Kuismin and Park, \{Kristen L.\} and Aaina Kochhar and Kathleen Brown and Subhadra Ramanathan and Clark, \{Robin D.\} and Magdeldin Elgizouli and Gia Melikishvili and Nazhi Tabatadze and Zornitza Stark and Mirzaa, \{Ghayda M.\} and Jinfon Ong and Ute Grasshoff and Andrea Bevot and \{von Wintzingerode\}, Lydia and Jamra, \{Rami A.\} and Yvonne Hennig and Paula Goldenberg and \{Al Alam\}, Chadi and Majida Charif and Redouane Boulouiz and Mohammed Bellaoui and Rim Amrani and \{Al Mutairi\}, Fuad and Tamim, \{Abdullah M.\} and Firdous Abdulwahab and Alkuraya, \{Fowzan S.\} and Khouj, \{Ebtissal M.\} and Alvi, \{Javeria R.\} and Tipu Sultan and Narges Hashemi and Karimiani, \{Ehsan G.\} and Farah Ashrafzadeh and Shima Imannezhad and Stephanie Efthymiou and Henry Houlden and Heinrich Sticht and Christiane Zweier",

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year = "2023",

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doi = "10.1016/j.gim.2023.100885",

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AU - Langhammer, Franziska

AU - Maroofian, Reza

AU - Badar, Rueda

AU - Gregor, Anne

AU - Rochman, Michelle

AU - Ratliff, Jeffrey B.

AU - Koopmans, Marije

AU - Herget, Theresia

AU - Hempel, Maja

AU - Kortüm, Fanny

AU - Heron, Delphine

AU - Mignot, Cyril

AU - Keren, Boris

AU - Brooks, Susan

AU - Botti, Christina

AU - Ben-Zeev, Bruria

AU - Argilli, Emanuela

AU - Sherr, Elliot H.

AU - Gowda, Vykuntaraju K.

AU - Srinivasan, Varunvenkat M.

AU - Bakhtiari, Somayeh

AU - Kruer, Michael C.

AU - Salih, Mustafa A.

AU - Kuechler, Alma

AU - Muller, Eric A.

AU - Blocker, Karli

AU - Kuismin, Outi

AU - Park, Kristen L.

AU - Kochhar, Aaina

AU - Brown, Kathleen

AU - Ramanathan, Subhadra

AU - Clark, Robin D.

AU - Elgizouli, Magdeldin

AU - Melikishvili, Gia

AU - Tabatadze, Nazhi

AU - Stark, Zornitza

AU - Mirzaa, Ghayda M.

AU - Ong, Jinfon

AU - Grasshoff, Ute

AU - Bevot, Andrea

AU - von Wintzingerode, Lydia

AU - Jamra, Rami A.

AU - Hennig, Yvonne

AU - Goldenberg, Paula

AU - Al Alam, Chadi

AU - Charif, Majida

AU - Boulouiz, Redouane

AU - Bellaoui, Mohammed

AU - Amrani, Rim

AU - Al Mutairi, Fuad

AU - Tamim, Abdullah M.

AU - Abdulwahab, Firdous

AU - Alkuraya, Fowzan S.

AU - Khouj, Ebtissal M.

AU - Alvi, Javeria R.

AU - Sultan, Tipu

AU - Hashemi, Narges

AU - Karimiani, Ehsan G.

AU - Ashrafzadeh, Farah

AU - Imannezhad, Shima

AU - Efthymiou, Stephanie

AU - Houlden, Henry

AU - Sticht, Heinrich

AU - Zweier, Christiane

PY - 2023/8

Y1 - 2023/8

KW - Developmental and epileptic encephalopathy

KW - Intellectual disability

KW - Neurodevelopmental disorder

KW - RHOBTB2

KW - Seizures

UR - https://www.scopus.com/pages/publications/85162156834

UR - https://www.scopus.com/pages/publications/85162156834#tab=citedBy

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DO - 10.1016/j.gim.2023.100885

M3 - Article

C2 - 37165955

AN - SCOPUS:85162156834

SN - 1098-3600

VL - 25

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 8

M1 - 100885

ER -

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

ASJC Scopus Subject Areas

Keywords

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