Accueil
Elena Perenthaler
Elena Perenthaler
Affiliations
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.
Publications (8)
The Why of YY1: Mechanisms of Transcriptional Regulation by Yin Yang 1.
Frontiers in cell and developmental biology
Avec:
Thijs C J Verheul
,
Levi van Hijfte
,
Tahsin Stefan Barakat
Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development.
Frontiers in cellular neuroscience
Avec:
Soheil Yousefi
,
Eva Niggl
,
Tahsin Stefan Barakat
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain : a journal of neurology
Avec:
Leslie E Sanderson
,
Kristina Lanko
,
Maysoon Alsagob
,
Rawan Almass
,
Nada Al-Ahmadi
,
Maryam Najafi
,
Mohammad A Al-Muhaizea
,
Hamad Alzaidan
,
Hesham AlDhalaan
,
Herma C van der Linde
,
Anita Nikoncuk
,
Nikolas A Kühn
,
Dinu Antony
,
Tarek Mustafa Owaidah
,
Salmo Raskin
,
Luana Gabriela Dalla Rosa Vieira
,
Romulo Mombach
,
Najmeh Ahangari
,
Tainá Regina Damaceno Silveira
,
Najim Ameziane
,
Arndt Rolfs
,
Aljohara Alharbi
,
Raghda M Sabbagh
,
Khalid AlAhmadi
,
Bashayer Alawam
,
Hazem Ghebeh
,
Aljouhra AlHargan
,
Anoud A Albader
,
Faisal S Binhumaid
,
Ewa Goljan
,
Dorota Monies
,
Osama M Mustafa
,
Mazhor Aldosary
,
Albandary AlBakheet
,
Banan Alyounes
,
Faten Almutairi
,
Ali Al-Odaib
,
Durdane Bekar Aksoy
,
A Nazli Basak
,
Robin Palvadeau
,
Daniah Trabzuni
,
Jill A Rosenfeld
,
Ehsan Ghayoor Karimiani
,
Brian F Meyer
,
Bedri Karakas
,
Futwan Al-Mohanna
,
Stefan T Arold
,
Dilek Colak
,
Reza Maroofian
,
Henry Houlden
,
Aida M Bertoli-Avella
,
Miriam Schmidts
,
Tahsin Stefan Barakat
,
Tjakko J van Ham
,
Namik Kaya
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta neuropathologica
Avec:
Anita Nikoncuk
,
Soheil Yousefi
,
Woutje M Berdowski
,
Maysoon Alsagob
,
Ivan Capo
,
Herma C van der Linde
,
Paul van den Berg
,
Edwin H Jacobs
,
Darija Putar
,
Mehrnaz Ghazvini
,
Eleonora Aronica
,
Wilfred F J van IJcken
,
Walter G de Valk
,
Evita Medici-van den Herik
,
Marjon van Slegtenhorst
,
Lauren Brick
,
Mariya Kozenko
,
Jennefer N Kohler
,
Jonathan A Bernstein
,
Kristin G Monaghan
,
Amber Begtrup
,
Rebecca Torene
,
Amna Al Futaisi
,
Fathiya Al Murshedi
,
Renjith Mani
,
Faisal Al Azri
,
Erik-Jan Kamsteeg
,
Majid Mojarrad
,
Atieh Eslahi
,
Zaynab Khazaei
,
Fateme Massinaei Darmiyan
,
Mohammad Doosti
,
Ehsan Ghayoor Karimiani
,
Jana Vandrovcova
,
Faisal Zafar
,
Nuzhat Rana
,
Krishna K Kandaswamy
,
Jozef Hertecant
,
Peter Bauer
,
Mohammed A AlMuhaizea
,
Mustafa A Salih
,
Mazhor Aldosary
,
Rawan Almass
,
Laila Al-Quait
,
Wafa Qubbaj
,
Serdar Coskun
,
Khaled O Alahmadi
,
Muddathir H A Hamad
,
Salem Alwadaee
,
Khalid Awartani
,
Anas M Dababo
,
Futwan Almohanna
,
Dilek Colak
,
Mohammadreza Dehghani
,
Mohammad Yahya Vahidi Mehrjardi
,
Murat Gunel
,
A Gulhan Ercan-Sencicek
,
Gouri Rao Passi
,
Huma Arshad Cheema
,
Stephanie Efthymiou
,
Henry Houlden
,
Aida M Bertoli-Avella
,
Alice S Brooks
,
Kyle Retterer
,
Reza Maroofian
,
Namik Kaya
,
Tjakko J van Ham
,
Tahsin Stefan Barakat
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.
Genome medicine
Avec:
Soheil Yousefi
,
Ruizhi Deng
,
Kristina Lanko
,
Eva Medico Salsench
,
Anita Nikoncuk
,
Herma C van der Linde
,
Tjakko J van Ham
,
Eskeatnaf Mulugeta
,
Tahsin Stefan Barakat
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
American journal of human genetics
Avec:
Scott Barish
,
Tahsin Stefan Barakat
,
Brittany C Michel
,
Nazar Mashtalir
,
Jennifer B Phillips
,
Alfredo M Valencia
,
Berrak Ugur
,
Jeremy Wegner
,
Tiana M Scott
,
Brett Bostwick
,
Auteur inconnu
,
David R Murdock
,
Hongzheng Dai
,
Anita Nikoncuk
,
Marjon van Slegtenhorst
,
Alice S Brooks
,
Boris Keren
,
Caroline Nava
,
Cyril Mignot
,
Jessica Douglas
,
Lance Rodan
,
Catherine Nowak
,
Sian Ellard
,
Karen Stals
,
Sally Ann Lynch
,
Marie Faoucher
,
Gaetan Lesca
,
Patrick Edery
,
Kendra L Engleman
,
Dihong Zhou
,
Isabelle Thiffault
,
John Herriges
,
Jennifer Gass
,
Raymond J Louie
,
Elliot Stolerman
,
Camerun Washington
,
Francesco Vetrini
,
Aiko Otsubo
,
Victoria M Pratt
,
Erin Conboy
,
Kayla Treat
,
Nora Shannon
,
Jose Camacho
,
Emma Wakeling
,
Bo Yuan
,
Chun-An Chen
,
Jill A Rosenfeld
,
Monte Westerfield
,
Michael Wangler
,
Shinya Yamamoto
,
Cigall Kadoch
,
Daryl A Scott
,
Hugo J Bellen
SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy.
Nature cell biology
Avec:
Fabio Lauria
,
Paola Bernabò
,
Toma Tebaldi
,
Ewout Joan Nicolaas Groen
,
Federica Maniscalco
,
Annalisa Rossi
,
Deborah Donzel
,
Massimiliano Clamer
,
Marta Marchioretto
,
Neža Omersa
,
Julia Orri
,
Mauro Dalla Serra
,
Gregor Anderluh
,
Alessandro Quattrone
,
Alberto Inga
,
Thomas Henry Gillingwater
,
Gabriella Viero
The SMN-ribosome interplay: a new opportunity for Spinal Muscular Atrophy therapies.
Biochemical Society transactions
Avec:
Gaurav Sharma
,
Martina Paganin
,
Fabio Lauria
,
Gabriella Viero
Réseau de co-auteurs
Tahsin Stefan Barakat
6 collaborations
Anita Nikoncuk
4 collaborations
Soheil Yousefi
3 collaborations
Herma C van der Linde
3 collaborations
Tjakko J van Ham
3 collaborations
Kristina Lanko
2 collaborations
Maysoon Alsagob
2 collaborations
Rawan Almass
2 collaborations
Mazhor Aldosary
2 collaborations
Jill A Rosenfeld
2 collaborations
Ehsan Ghayoor Karimiani
2 collaborations
Dilek Colak
2 collaborations
Reza Maroofian
2 collaborations
Henry Houlden
2 collaborations
Aida M Bertoli-Avella
2 collaborations
Namik Kaya
2 collaborations
Marjon van Slegtenhorst
2 collaborations
Alice S Brooks
2 collaborations
Fabio Lauria
2 collaborations
Gabriella Viero
2 collaborations
Thijs C J Verheul
1 collaboration
Levi van Hijfte
1 collaboration
Eva Niggl
1 collaboration
Leslie E Sanderson
1 collaboration
Nada Al-Ahmadi
1 collaboration
Maryam Najafi
1 collaboration
Mohammad A Al-Muhaizea
1 collaboration
Hamad Alzaidan
1 collaboration
Hesham AlDhalaan
1 collaboration
Nikolas A Kühn
1 collaboration
Dinu Antony
1 collaboration
Tarek Mustafa Owaidah
1 collaboration
Salmo Raskin
1 collaboration
Luana Gabriela Dalla Rosa Vieira
1 collaboration
Romulo Mombach
1 collaboration
Najmeh Ahangari
1 collaboration
Tainá Regina Damaceno Silveira
1 collaboration
Najim Ameziane
1 collaboration
Arndt Rolfs
1 collaboration
Aljohara Alharbi
1 collaboration
Raghda M Sabbagh
1 collaboration
Khalid AlAhmadi
1 collaboration
Bashayer Alawam
1 collaboration
Hazem Ghebeh
1 collaboration
Aljouhra AlHargan
1 collaboration
Anoud A Albader
1 collaboration
Faisal S Binhumaid
1 collaboration
Ewa Goljan
1 collaboration
Dorota Monies
1 collaboration
Osama M Mustafa
1 collaboration
Albandary AlBakheet
1 collaboration
Banan Alyounes
1 collaboration
Faten Almutairi
1 collaboration
Ali Al-Odaib
1 collaboration
Durdane Bekar Aksoy
1 collaboration
A Nazli Basak
1 collaboration
Robin Palvadeau
1 collaboration
Daniah Trabzuni
1 collaboration
Brian F Meyer
1 collaboration
Bedri Karakas
1 collaboration
Futwan Al-Mohanna
1 collaboration
Stefan T Arold
1 collaboration
Miriam Schmidts
1 collaboration
Woutje M Berdowski
1 collaboration
Ivan Capo
1 collaboration
Paul van den Berg
1 collaboration
Edwin H Jacobs
1 collaboration
Darija Putar
1 collaboration
Mehrnaz Ghazvini
1 collaboration
Eleonora Aronica
1 collaboration
Wilfred F J van IJcken
1 collaboration
Walter G de Valk
1 collaboration
Evita Medici-van den Herik
1 collaboration
Lauren Brick
1 collaboration
Mariya Kozenko
1 collaboration
Jennefer N Kohler
1 collaboration
Jonathan A Bernstein
1 collaboration
Kristin G Monaghan
1 collaboration
Amber Begtrup
1 collaboration
Rebecca Torene
1 collaboration
Amna Al Futaisi
1 collaboration
Fathiya Al Murshedi
1 collaboration
Renjith Mani
1 collaboration
Faisal Al Azri
1 collaboration
Erik-Jan Kamsteeg
1 collaboration
Majid Mojarrad
1 collaboration
Atieh Eslahi
1 collaboration
Zaynab Khazaei
1 collaboration
Fateme Massinaei Darmiyan
1 collaboration
Mohammad Doosti
1 collaboration
Jana Vandrovcova
1 collaboration
Faisal Zafar
1 collaboration
Nuzhat Rana
1 collaboration
Krishna K Kandaswamy
1 collaboration
Jozef Hertecant
1 collaboration
Peter Bauer
1 collaboration
Mohammed A AlMuhaizea
1 collaboration
Mustafa A Salih
1 collaboration
Laila Al-Quait
1 collaboration
Wafa Qubbaj
1 collaboration
Serdar Coskun
1 collaboration
Khaled O Alahmadi
1 collaboration
Muddathir H A Hamad
1 collaboration
Salem Alwadaee
1 collaboration
Khalid Awartani
1 collaboration
Anas M Dababo
1 collaboration
Futwan Almohanna
1 collaboration
Mohammadreza Dehghani
1 collaboration
Mohammad Yahya Vahidi Mehrjardi
1 collaboration
Murat Gunel
1 collaboration
A Gulhan Ercan-Sencicek
1 collaboration
Gouri Rao Passi
1 collaboration
Huma Arshad Cheema
1 collaboration
Stephanie Efthymiou
1 collaboration
Kyle Retterer
1 collaboration
Ruizhi Deng
1 collaboration
Eva Medico Salsench
1 collaboration
Eskeatnaf Mulugeta
1 collaboration
Scott Barish
1 collaboration
Brittany C Michel
1 collaboration
Nazar Mashtalir
1 collaboration
Jennifer B Phillips
1 collaboration
Alfredo M Valencia
1 collaboration
Berrak Ugur
1 collaboration
Jeremy Wegner
1 collaboration
Tiana M Scott
1 collaboration
Brett Bostwick
1 collaboration
None None
1 collaboration
David R Murdock
1 collaboration
Hongzheng Dai
1 collaboration
Boris Keren
1 collaboration
Caroline Nava
1 collaboration
Cyril Mignot
1 collaboration
Jessica Douglas
1 collaboration
Lance Rodan
1 collaboration
Catherine Nowak
1 collaboration
Sian Ellard
1 collaboration
Karen Stals
1 collaboration
Sally Ann Lynch
1 collaboration
Marie Faoucher
1 collaboration
Gaetan Lesca
1 collaboration
Patrick Edery
1 collaboration
Kendra L Engleman
1 collaboration
Dihong Zhou
1 collaboration
Isabelle Thiffault
1 collaboration
John Herriges
1 collaboration
Jennifer Gass
1 collaboration
Raymond J Louie
1 collaboration
Elliot Stolerman
1 collaboration
Camerun Washington
1 collaboration
Francesco Vetrini
1 collaboration
Aiko Otsubo
1 collaboration
Victoria M Pratt
1 collaboration
Erin Conboy
1 collaboration
Kayla Treat
1 collaboration
Nora Shannon
1 collaboration
Jose Camacho
1 collaboration
Emma Wakeling
1 collaboration
Bo Yuan
1 collaboration
Chun-An Chen
1 collaboration
Monte Westerfield
1 collaboration
Michael Wangler
1 collaboration
Shinya Yamamoto
1 collaboration
Cigall Kadoch
1 collaboration
Daryl A Scott
1 collaboration
Hugo J Bellen
1 collaboration
Paola Bernabò
1 collaboration
Toma Tebaldi
1 collaboration
Ewout Joan Nicolaas Groen
1 collaboration
Federica Maniscalco
1 collaboration
Annalisa Rossi
1 collaboration
Deborah Donzel
1 collaboration
Massimiliano Clamer
1 collaboration
Marta Marchioretto
1 collaboration
Neža Omersa
1 collaboration
Julia Orri
1 collaboration
Mauro Dalla Serra
1 collaboration
Gregor Anderluh
1 collaboration
Alessandro Quattrone
1 collaboration
Alberto Inga
1 collaboration
Thomas Henry Gillingwater
1 collaboration
Gaurav Sharma
1 collaboration
Martina Paganin
1 collaboration