Carla Grosmann

Affiliations

Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, CA, USA.

Publications (5)

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

Nature genetics

Avec: Ana Töpf , Dan Cox , Irina T Zaharieva , Valeria Di Leo , Jaakko Sarparanta , Per Harald Jonson , Ian M Sealy , Andrei Smolnikov , Richard J White , Anna Vihola , Marco Savarese , Munise Merteroglu , Neha Wali , Kristen M Laricchia , Cristina Venturini , Bas Vroling , Sarah L Stenton , Beryl B Cummings , Elizabeth Harris , Chiara Marini-Bettolo , Jordi Diaz-Manera , Matt Henderson , Rita Barresi , Jennifer Duff , Eleina M England , Jane Patrick , Sundos Al-Husayni , Valerie Biancalana , Alan H Beggs , Istvan Bodi , Shobhana Bommireddipalli , Carsten G Bönnemann , Anita Cairns , Mei-Ting Chiew , Kristl G Claeys , Sandra T Cooper , Mark R Davis , Sandra Donkervoort , Corrie E Erasmus , Mahmoud R Fassad , Casie A Genetti , Heinz Jungbluth , Erik-Jan Kamsteeg , Xavière Lornage , Wolfgang N Löscher , Edoardo Malfatti , Adnan Manzur , Pilar Martí , Tiziana E Mongini , Nuria Muelas , Atsuko Nishikawa , Anne O'Donnell-Luria , Narumi Ogonuki , Gina L O'Grady , Emily O'Heir , Stéphanie Paquay , Rahul Phadke , Beth A Pletcher , Norma B Romero , Meyke Schouten , Snehal Shah , Izelle Smuts , Yves Sznajer , Giorgio Tasca , Robert W Taylor , Allysa Tuite , Peter Van den Bergh , Grace VanNoy , Nicol C Voermans , Julia V Wanschitz , Elizabeth Wraige , Kimihiko Yoshimura , Emily C Oates , Osamu Nakagawa , Ichizo Nishino , Jocelyn Laporte , Juan J Vilchez , Daniel G MacArthur , Anna Sarkozy , Heather J Cordell , Bjarne Udd , Elisabeth M Busch-Nentwich , Francesco Muntoni , Volker Straub

Making sense of missense variants in TTN-related congenital myopathies.

Acta neuropathologica

Avec: Martin Rees , Roksana Nikoopour , Atsushi Fukuzawa , Ay Lin Kho , Miguel A Fernandez-Garcia , Elizabeth Wraige , Istvan Bodi , Charu Deshpande , Özkan Özdemir , Hülya-Sevcan Daimagüler , Mark Pfuhl , Mark Holt , Birgit Brandmeier , Sarah Grover , Joël Fluss , Cheryl Longman , Maria Elena Farrugia , Emma Matthews , Michael Hanna , Francesco Muntoni , Anna Sarkozy , Rahul Phadke , Ros Quinlivan , Emily C Oates , Rolf Schröder , Christian Thiel , Jens Reimann , Nicol Voermans , Corrie Erasmus , Erik-Jan Kamsteeg , Chaminda Konersman , Shane McKee , Sandya Tirupathi , Steven A Moore , Ekkehard Wilichowski , Elke Hobbiebrunken , Gabriele Dekomien , Isabelle Richard , Peter Van den Bergh , Cristina Domínguez-González , Sebahattin Cirak , Ana Ferreiro , Heinz Jungbluth , Mathias Gautel

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Human mutation

Avec: Samantha J Bryen , Lisa J Ewans , Jason Pinner , Suzanna C MacLennan , Sandra Donkervoort , Diana Castro , Ana Töpf , Gina O'Grady , Beryl Cummings , Katherine R Chao , Ben Weisburd , Laurent Francioli , Fathimath Faiz , Adam M Bournazos , Ying Hu , Denise M Malicki , Helen Doyle , Nanna Witting , John Vissing , Kristl G Claeys , Kathryn Urankar , Ana Beleza-Meireles , Julia Baptista , Sian Ellard , Marco Savarese , Mridul Johari , Anna Vihola , Bjarne Udd , Anirban Majumdar , Volker Straub , Carsten G Bönnemann , Daniel G MacArthur , Mark R Davis , Sandra T Cooper

Clinical, genetic, and pathologic characterization of

Neurology. Genetics

Avec: Angela J Lee , Karra A Jones , Russell J Butterfield , Mary O Cox , Chamindra G Konersman , Jose E Abdenur , Monica Boyer , Brent Beson , Ching Wang , James J Dowling , Melissa A Gibbons , Alison Ballard , Joanne S Janas , Robert T Leshner , Sandra Donkervoort , Carsten G Bönnemann , Denise M Malicki , Robert B Weiss , Steven A Moore , Katherine D Mathews

The recurrent deep intronic pseudoexon-inducing variant

medRxiv : the preprint server for health sciences

Avec: A Reghan Foley , Véronique Bolduc , Fady Guirguis , Sandra Donkervoort , Ying Hu , Rotem Orbach , Riley M McCarty , Apurva Sarathy , Gina Norato , Beryl B Cummings , Monkol Lek , Anna Sarkozy , Russell J Butterfield , Janbernd Kirschner , Andrés Nascimento , Daniel Natera-de Benito , Susana Quijano-Roy , Tanya Stojkovic , Luciano Merlini , Giacomo Comi , Monique Ryan , Denise McDonald , Pinki Munot , Grace Yoon , Edward Leung , Erika Finanger , Meganne E Leach , James Collins , Cuixia Tian , Payam Mohassel , Sarah B Neuhaus , Dimah Saade , Benjamin T Cocanougher , Mary-Lynn Chu , Mena Scavina , Randal Richardson , Brian D Kossak , Sidney M Gospe , Vikram Bhise , Gita Taurina , Baiba Lace , Monica Troncoso , Mordechai Shohat , Adel Shalata , Sophelia H S Chan , Manu Jokela , Johanna Palmio , Göknur Haliloğlu , Cristina Jou , Corine Gartioux , Herimela Solomon-Degefa , Carolin D Freiburg , Alvise Schiavinato , Haiyan Zhou , Sara Aguti , Yoram Nevo , Ichizo Nishino , Cecilia Jimenez-Mallebrera , Shireen R Lamandé , Valérie Allamand , Francesca Gualandi , Alessandra Ferlini , Daniel G MacArthur , Steve D Wilton , Raimund Wagener , Enrico Bertini , Francesco Muntoni , Carsten G Bönnemann

Réseau de co-auteurs

Carsten G Bönnemann 4 collaborations

Sandra Donkervoort 4 collaborations

Daniel G MacArthur 3 collaborations

Anna Sarkozy 3 collaborations

Francesco Muntoni 3 collaborations

Ana Töpf 2 collaborations

Anna Vihola 2 collaborations

Marco Savarese 2 collaborations

Beryl B Cummings 2 collaborations

Istvan Bodi 2 collaborations

Kristl G Claeys 2 collaborations

Sandra T Cooper 2 collaborations

Mark R Davis 2 collaborations

Heinz Jungbluth 2 collaborations

Erik-Jan Kamsteeg 2 collaborations

Rahul Phadke 2 collaborations

Peter Van den Bergh 2 collaborations

Elizabeth Wraige 2 collaborations

Emily C Oates 2 collaborations

Ichizo Nishino 2 collaborations

Bjarne Udd 2 collaborations

Volker Straub 2 collaborations

Steven A Moore 2 collaborations

Ying Hu 2 collaborations

Denise M Malicki 2 collaborations

Russell J Butterfield 2 collaborations

Dan Cox 1 collaboration

Irina T Zaharieva 1 collaboration

Valeria Di Leo 1 collaboration

Jaakko Sarparanta 1 collaboration

Per Harald Jonson 1 collaboration

Ian M Sealy 1 collaboration

Andrei Smolnikov 1 collaboration

Richard J White 1 collaboration

Munise Merteroglu 1 collaboration

Neha Wali 1 collaboration

Kristen M Laricchia 1 collaboration

Cristina Venturini 1 collaboration

Bas Vroling 1 collaboration

Sarah L Stenton 1 collaboration

Elizabeth Harris 1 collaboration

Chiara Marini-Bettolo 1 collaboration

Jordi Diaz-Manera 1 collaboration

Matt Henderson 1 collaboration

Rita Barresi 1 collaboration

Jennifer Duff 1 collaboration

Eleina M England 1 collaboration

Jane Patrick 1 collaboration

Sundos Al-Husayni 1 collaboration

Valerie Biancalana 1 collaboration

Alan H Beggs 1 collaboration

Shobhana Bommireddipalli 1 collaboration

Anita Cairns 1 collaboration

Mei-Ting Chiew 1 collaboration

Corrie E Erasmus 1 collaboration

Mahmoud R Fassad 1 collaboration

Casie A Genetti 1 collaboration

Xavière Lornage 1 collaboration

Wolfgang N Löscher 1 collaboration

Edoardo Malfatti 1 collaboration

Adnan Manzur 1 collaboration

Pilar Martí 1 collaboration

Tiziana E Mongini 1 collaboration

Nuria Muelas 1 collaboration

Atsuko Nishikawa 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Narumi Ogonuki 1 collaboration

Gina L O'Grady 1 collaboration

Emily O'Heir 1 collaboration

Stéphanie Paquay 1 collaboration

Beth A Pletcher 1 collaboration

Norma B Romero 1 collaboration

Meyke Schouten 1 collaboration

Snehal Shah 1 collaboration

Izelle Smuts 1 collaboration

Yves Sznajer 1 collaboration

Giorgio Tasca 1 collaboration

Robert W Taylor 1 collaboration

Allysa Tuite 1 collaboration

Grace VanNoy 1 collaboration

Nicol C Voermans 1 collaboration

Julia V Wanschitz 1 collaboration

Kimihiko Yoshimura 1 collaboration

Osamu Nakagawa 1 collaboration

Jocelyn Laporte 1 collaboration

Juan J Vilchez 1 collaboration

Heather J Cordell 1 collaboration

Elisabeth M Busch-Nentwich 1 collaboration

Martin Rees 1 collaboration

Roksana Nikoopour 1 collaboration

Atsushi Fukuzawa 1 collaboration

Ay Lin Kho 1 collaboration

Miguel A Fernandez-Garcia 1 collaboration

Charu Deshpande 1 collaboration

Özkan Özdemir 1 collaboration

Hülya-Sevcan Daimagüler 1 collaboration

Mark Pfuhl 1 collaboration

Mark Holt 1 collaboration

Birgit Brandmeier 1 collaboration

Sarah Grover 1 collaboration

Joël Fluss 1 collaboration

Cheryl Longman 1 collaboration

Maria Elena Farrugia 1 collaboration

Emma Matthews 1 collaboration

Michael Hanna 1 collaboration

Ros Quinlivan 1 collaboration

Rolf Schröder 1 collaboration

Christian Thiel 1 collaboration

Jens Reimann 1 collaboration

Nicol Voermans 1 collaboration

Corrie Erasmus 1 collaboration

Chaminda Konersman 1 collaboration

Shane McKee 1 collaboration

Sandya Tirupathi 1 collaboration

Ekkehard Wilichowski 1 collaboration

Elke Hobbiebrunken 1 collaboration

Gabriele Dekomien 1 collaboration

Isabelle Richard 1 collaboration

Cristina Domínguez-González 1 collaboration

Sebahattin Cirak 1 collaboration

Ana Ferreiro 1 collaboration

Mathias Gautel 1 collaboration

Samantha J Bryen 1 collaboration

Lisa J Ewans 1 collaboration

Jason Pinner 1 collaboration

Suzanna C MacLennan 1 collaboration

Diana Castro 1 collaboration

Gina O'Grady 1 collaboration

Beryl Cummings 1 collaboration

Katherine R Chao 1 collaboration

Ben Weisburd 1 collaboration

Laurent Francioli 1 collaboration

Fathimath Faiz 1 collaboration

Adam M Bournazos 1 collaboration

Helen Doyle 1 collaboration

Nanna Witting 1 collaboration

John Vissing 1 collaboration

Kathryn Urankar 1 collaboration

Ana Beleza-Meireles 1 collaboration

Julia Baptista 1 collaboration

Sian Ellard 1 collaboration

Mridul Johari 1 collaboration

Anirban Majumdar 1 collaboration

Angela J Lee 1 collaboration

Karra A Jones 1 collaboration

Mary O Cox 1 collaboration

Chamindra G Konersman 1 collaboration

Jose E Abdenur 1 collaboration

Monica Boyer 1 collaboration

Brent Beson 1 collaboration

Ching Wang 1 collaboration

James J Dowling 1 collaboration

Melissa A Gibbons 1 collaboration

Alison Ballard 1 collaboration

Joanne S Janas 1 collaboration

Robert T Leshner 1 collaboration

Robert B Weiss 1 collaboration

Katherine D Mathews 1 collaboration

A Reghan Foley 1 collaboration

Véronique Bolduc 1 collaboration

Fady Guirguis 1 collaboration

Rotem Orbach 1 collaboration

Riley M McCarty 1 collaboration

Apurva Sarathy 1 collaboration

Gina Norato 1 collaboration

Monkol Lek 1 collaboration

Janbernd Kirschner 1 collaboration

Andrés Nascimento 1 collaboration

Daniel Natera-de Benito 1 collaboration

Susana Quijano-Roy 1 collaboration

Tanya Stojkovic 1 collaboration

Luciano Merlini 1 collaboration

Giacomo Comi 1 collaboration

Monique Ryan 1 collaboration

Denise McDonald 1 collaboration

Pinki Munot 1 collaboration

Grace Yoon 1 collaboration

Edward Leung 1 collaboration

Erika Finanger 1 collaboration

Meganne E Leach 1 collaboration

James Collins 1 collaboration

Cuixia Tian 1 collaboration

Payam Mohassel 1 collaboration

Sarah B Neuhaus 1 collaboration

Dimah Saade 1 collaboration

Benjamin T Cocanougher 1 collaboration

Mary-Lynn Chu 1 collaboration

Mena Scavina 1 collaboration

Randal Richardson 1 collaboration

Brian D Kossak 1 collaboration

Sidney M Gospe 1 collaboration

Vikram Bhise 1 collaboration

Gita Taurina 1 collaboration

Baiba Lace 1 collaboration

Monica Troncoso 1 collaboration

Mordechai Shohat 1 collaboration

Adel Shalata 1 collaboration

Sophelia H S Chan 1 collaboration

Manu Jokela 1 collaboration

Johanna Palmio 1 collaboration

Göknur Haliloğlu 1 collaboration

Cristina Jou 1 collaboration

Corine Gartioux 1 collaboration

Herimela Solomon-Degefa 1 collaboration

Carolin D Freiburg 1 collaboration

Alvise Schiavinato 1 collaboration

Haiyan Zhou 1 collaboration

Sara Aguti 1 collaboration

Yoram Nevo 1 collaboration

Cecilia Jimenez-Mallebrera 1 collaboration

Shireen R Lamandé 1 collaboration

Valérie Allamand 1 collaboration

Francesca Gualandi 1 collaboration

Alessandra Ferlini 1 collaboration

Steve D Wilton 1 collaboration

Raimund Wagener 1 collaboration

Enrico Bertini 1 collaboration