Laura Tomas-Roca

Affiliations

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Publications (3)

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Isabelle Schrauwen , Hanne Valgaeren , Laura Tomas-Roca , Manou Sommen , Umut Altunoglu , Mieke Wesdorp , Matthias Beyens , Erik Fransen , Abdul Nasir , Geert Vandeweyer , Anne Schepers , Malika Rahmoun , Ellen van Beusekom , Matt J Huentelman , Erwin Offeciers , Ingeborg Dhooghe , Alex Huber , Paul Van de Heyning , Diego Zanetti , Els M R De Leenheer , Christian Gilissen , Alexander Hoischen , Cor W Cremers , Berit Verbist , Arjan P M de Brouwer , George W Padberg , Ronald Pennings , Hülya Kayserili , Hannie Kremer , Guy Van Camp , Hans van Bokhoven

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Molecular psychiatry

Avec: S Riazuddin , M Hussain , A Razzaq , Z Iqbal , M Shahzad , D L Polla , Y Song , E van Beusekom , A A Khan , L Tomas-Roca , M Rashid , M Y Zahoor , W M Wissink-Lindhout , M A R Basra , M Ansar , Z Agha , K van Heeswijk , F Rasheed , M Van de Vorst , J A Veltman , C Gilissen , J Akram , T Kleefstra , M Z Assir , Auteur inconnu , D Grozeva , K Carss , F L Raymond , T D O'Connor , S A Riazuddin , S N Khan , Z M Ahmed , A P M de Brouwer , H van Bokhoven , S Riazuddin

Developmental disruption and restoration of brain synaptome architecture in the murine Pax6 neurodevelopmental disease model.

Nature communications

Avec: Laura Tomas-Roca , Zhen Qiu , Erik Fransén , Ragini Gokhale , Edita Bulovaite , David J Price , Noboru H Komiyama , Seth G N Grant

Réseau de co-auteurs

S Riazuddin 2 collaborations

Isabelle Schrauwen 1 collaboration

Hanne Valgaeren 1 collaboration

Manou Sommen 1 collaboration

Umut Altunoglu 1 collaboration

Mieke Wesdorp 1 collaboration

Matthias Beyens 1 collaboration

Erik Fransen 1 collaboration

Abdul Nasir 1 collaboration

Geert Vandeweyer 1 collaboration

Anne Schepers 1 collaboration

Malika Rahmoun 1 collaboration

Ellen van Beusekom 1 collaboration

Matt J Huentelman 1 collaboration

Erwin Offeciers 1 collaboration

Ingeborg Dhooghe 1 collaboration

Alex Huber 1 collaboration

Paul Van de Heyning 1 collaboration

Diego Zanetti 1 collaboration

Els M R De Leenheer 1 collaboration

Christian Gilissen 1 collaboration

Alexander Hoischen 1 collaboration

Cor W Cremers 1 collaboration

Berit Verbist 1 collaboration

Arjan P M de Brouwer 1 collaboration

George W Padberg 1 collaboration

Ronald Pennings 1 collaboration

Hülya Kayserili 1 collaboration

Hannie Kremer 1 collaboration

Guy Van Camp 1 collaboration

Hans van Bokhoven 1 collaboration

M Hussain 1 collaboration

A Razzaq 1 collaboration

Z Iqbal 1 collaboration

M Shahzad 1 collaboration

D L Polla 1 collaboration

Y Song 1 collaboration

E van Beusekom 1 collaboration

A A Khan 1 collaboration

L Tomas-Roca 1 collaboration

M Rashid 1 collaboration

M Y Zahoor 1 collaboration

W M Wissink-Lindhout 1 collaboration

M A R Basra 1 collaboration

M Ansar 1 collaboration

Z Agha 1 collaboration

K van Heeswijk 1 collaboration

F Rasheed 1 collaboration

M Van de Vorst 1 collaboration

J A Veltman 1 collaboration

C Gilissen 1 collaboration

J Akram 1 collaboration

T Kleefstra 1 collaboration

M Z Assir 1 collaboration

None None 1 collaboration

D Grozeva 1 collaboration

K Carss 1 collaboration

F L Raymond 1 collaboration

T D O'Connor 1 collaboration

S A Riazuddin 1 collaboration

S N Khan 1 collaboration

Z M Ahmed 1 collaboration

A P M de Brouwer 1 collaboration

H van Bokhoven 1 collaboration

Zhen Qiu 1 collaboration

Erik Fransén 1 collaboration

Ragini Gokhale 1 collaboration

Edita Bulovaite 1 collaboration

David J Price 1 collaboration

Noboru H Komiyama 1 collaboration

Seth G N Grant 1 collaboration