Maria Descartes

Affiliations

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

Publications (6)

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

American journal of human genetics

Avec: Susan M Hiatt , Slavica Trajkova , Matteo Rossi Sebastiano , E Christopher Partridge , Fatima E Abidi , Ashlyn Anderson , Muhammad Ansar , Stylianos E Antonarakis , Azadeh Azadi , Ruxandra Bachmann-Gagescu , Andrea Bartuli , Caroline Benech , Jennifer L Berkowitz , Michael J Betti , Alfredo Brusco , Ashley Cannon , Giulia Caron , Yanmin Chen , Meagan E Cochran , Tanner F Coleman , Molly M Crenshaw , Laurence Cuisset , Cynthia J Curry , Hossein Darvish , Serwet Demirdas , Maria Descartes , Jessica Douglas , David A Dyment , Houda Zghal Elloumi , Giuseppe Ermondi , Marie Faoucher , Emily G Farrow , Stephanie A Felker , Heather Fisher , Anna C E Hurst , Pascal Joset , Melissa A Kelly , Stanislav Kmoch , Benjamin R Leadem , Michael J Lyons , Marina Macchiaiolo , Martin Magner , Giorgia Mandrile , Francesca Mattioli , Megan McEown , Sarah K Meadows , Livija Medne , Naomi J L Meeks , Sarah Montgomery , Melanie P Napier , Marvin Natowicz , Kimberly M Newberry , Marcello Niceta , Lenka Noskova , Catherine B Nowak , Amanda G Noyes , Matthew Osmond , Eloise J Prijoles , Jada Pugh , Verdiana Pullano , Chloé Quélin , Simin Rahimi-Aliabadi , Anita Rauch , Sylvia Redon , Alexandre Reymond , Caitlin R Schwager , Elizabeth A Sellars , Angela E Scheuerle , Elena Shukarova-Angelovska , Cara Skraban , Elliot Stolerman , Bonnie R Sullivan , Marco Tartaglia , Isabelle Thiffault , Kevin Uguen , Luis A Umaña , Yolande van Bever , Saskia N van der Crabben , Marjon A van Slegtenhorst , Quinten Waisfisz , Camerun Washington , Lance H Rodan , Richard M Myers , Gregory M Cooper

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Science (New York, N.Y.)

Avec: Daniel O Dodd , Sabrina Mechaussier , Patricia L Yeyati , Fraser McPhie , Jacob R Anderson , Chen Jing Khoo , Amelia Shoemark , Deepesh K Gupta , Thomas Attard , Maimoona A Zariwala , Marie Legendre , Diana Bracht , Julia Wallmeier , Miao Gui , Mahmoud R Fassad , David A Parry , Peter A Tennant , Alison Meynert , Gabrielle Wheway , Lucas Fares-Taie , Holly A Black , Rana Mitri-Frangieh , Catherine Faucon , Josseline Kaplan , Mitali Patel , Lisa McKie , Roly Megaw , Christos Gatsogiannis , Mai A Mohamed , Stuart Aitken , Philippe Gautier , Finn R Reinholt , Robert A Hirst , Chris O'Callaghan , Ketil Heimdal , Mathieu Bottier , Estelle Escudier , Suzanne Crowley , Maria Descartes , Ethylin W Jabs , Priti Kenia , Jeanne Amiel , Giacomo Maria Bacci , Claudia Calogero , Viviana Palazzo , Lucia Tiberi , Ulrike Blümlein , Andrew Rogers , Jennifer A Wambach , Daniel J Wegner , Anne B Fulton , Margaret Kenna , Margaret Rosenfeld , Ingrid A Holm , Alan Quigley , Emma A Hall , Laura C Murphy , Diane M Cassidy , Alex von Kriegsheim , Auteur inconnu , Auteur inconnu , Auteur inconnu , Jean-François Papon , Laurent Pasquier , Marlène S Murris , James D Chalmers , Claire Hogg , Kenneth A Macleod , Don S Urquhart , Stefan Unger , Timothy J Aitman , Serge Amselem , Margaret W Leigh , Michael R Knowles , Heymut Omran , Hannah M Mitchison , Alan Brown , Joseph A Marsh , Julie P I Welburn , Shih-Chieh Ti , Amjad Horani , Jean-Michel Rozet , Isabelle Perrault , Pleasantine Mill

Consolidation of the clinical and genetic definition of a

Journal of medical genetics

Avec: Marco Angelozzi , Anirudha Karvande , Arnaud N Molin , Alyssa L Ritter , Jacqueline M M Leonard , Juliann M Savatt , Kristen Douglass , Scott M Myers , Mina Grippa , Dara Tolchin , Elaine Zackai , Sarah Donoghue , Anna C E Hurst , Maria Descartes , Kirstin Smith , Danita Velasco , Andrew Schmanski , Amy Crunk , Mari J Tokita , Iris M de Lange , Koen van Gassen , Hannah Robinson , Katie Guegan , Mohnish Suri , Chirag Patel , Marie Bournez , Laurence Faivre , Frédéric Tran-Mau-Them , Janice Baker , Noelle Fabie , K Weaver , Amelle Shillington , Robert J Hopkin , Daniela Q C M Barge-Schaapveld , Claudia Al Ruivenkamp , Regina Bökenkamp , Samantha Vergano , Maria Noelia Seco Moro , Aranzazu Díaz de Bustamante , Vinod K Misra , Kelly Kennelly , Caleb Rogers , Jennifer Friedman , Kristen M Wigby , Jerica Lenberg , Claudio Graziano , Rebecca C Ahrens-Nicklas , Veronique Lefebvre

Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.

Clinical genetics

Avec: Newell Belnap , Aiai Price-Smith , Keri Ramsey , Kamawela Leka , Anna Abraham , Emma Lieberman , Katie Hassett , Sai Potu , Natasha Rudy , Kirstin Smith , Fady M Mikhail , Kirstin G Monaghan , Andrea Hendershot , Jeroen Mourmans , Maria Descartes , Matthew J Huentelman , Jennifer Sills , Sampath Rangasamy , Vinodh Narayanan

Short Report: Clinical Features and Epilepsy Monitoring in an Adult With 22q11.2 Deletion Syndrome.

The Neurohospitalist

Avec: Mike W Zhang , Stephanie T Bustros , Tyler E Gaston , Maria Descartes , Shruti P Agnihotri

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.

Nature genetics

Avec: Janina Sörmann , Marcus Schewe , Peter Proks , Thibault Jouen-Tachoire , Shanlin Rao , Elena B Riel , Katherine E Agre , Amber Begtrup , John Dean , Maria Descartes , Jan Fischer , Alice Gardham , Carrie Lahner , Paul R Mark , Srikanth Muppidi , Pavel N Pichurin , Joseph Porrmann , Jens Schallner , Kirstin Smith , Volker Straub , Pradeep Vasudevan , Rebecca Willaert , Elisabeth P Carpenter , Karin E J Rödström , Michael G Hahn , Thomas Müller , Thomas Baukrowitz , Matthew E Hurles , Caroline F Wright , Stephen J Tucker

Réseau de co-auteurs

None None 3 collaborations

Kirstin Smith 3 collaborations

Anna C E Hurst 2 collaborations

Susan M Hiatt 1 collaboration

Slavica Trajkova 1 collaboration

Matteo Rossi Sebastiano 1 collaboration

E Christopher Partridge 1 collaboration

Fatima E Abidi 1 collaboration

Ashlyn Anderson 1 collaboration

Muhammad Ansar 1 collaboration

Stylianos E Antonarakis 1 collaboration

Azadeh Azadi 1 collaboration

Ruxandra Bachmann-Gagescu 1 collaboration

Andrea Bartuli 1 collaboration

Caroline Benech 1 collaboration

Jennifer L Berkowitz 1 collaboration

Michael J Betti 1 collaboration

Alfredo Brusco 1 collaboration

Ashley Cannon 1 collaboration

Giulia Caron 1 collaboration

Yanmin Chen 1 collaboration

Meagan E Cochran 1 collaboration

Tanner F Coleman 1 collaboration

Molly M Crenshaw 1 collaboration

Laurence Cuisset 1 collaboration

Cynthia J Curry 1 collaboration

Hossein Darvish 1 collaboration

Serwet Demirdas 1 collaboration

Jessica Douglas 1 collaboration

David A Dyment 1 collaboration

Houda Zghal Elloumi 1 collaboration

Giuseppe Ermondi 1 collaboration

Marie Faoucher 1 collaboration

Emily G Farrow 1 collaboration

Stephanie A Felker 1 collaboration

Heather Fisher 1 collaboration

Pascal Joset 1 collaboration

Melissa A Kelly 1 collaboration

Stanislav Kmoch 1 collaboration

Benjamin R Leadem 1 collaboration

Michael J Lyons 1 collaboration

Marina Macchiaiolo 1 collaboration

Martin Magner 1 collaboration

Giorgia Mandrile 1 collaboration

Francesca Mattioli 1 collaboration

Megan McEown 1 collaboration

Sarah K Meadows 1 collaboration

Livija Medne 1 collaboration

Naomi J L Meeks 1 collaboration

Sarah Montgomery 1 collaboration

Melanie P Napier 1 collaboration

Marvin Natowicz 1 collaboration

Kimberly M Newberry 1 collaboration

Marcello Niceta 1 collaboration

Lenka Noskova 1 collaboration

Catherine B Nowak 1 collaboration

Amanda G Noyes 1 collaboration

Matthew Osmond 1 collaboration

Eloise J Prijoles 1 collaboration

Jada Pugh 1 collaboration

Verdiana Pullano 1 collaboration

Chloé Quélin 1 collaboration

Simin Rahimi-Aliabadi 1 collaboration

Anita Rauch 1 collaboration

Sylvia Redon 1 collaboration

Alexandre Reymond 1 collaboration

Caitlin R Schwager 1 collaboration

Elizabeth A Sellars 1 collaboration

Angela E Scheuerle 1 collaboration

Elena Shukarova-Angelovska 1 collaboration

Cara Skraban 1 collaboration

Elliot Stolerman 1 collaboration

Bonnie R Sullivan 1 collaboration

Marco Tartaglia 1 collaboration

Isabelle Thiffault 1 collaboration

Kevin Uguen 1 collaboration

Luis A Umaña 1 collaboration

Yolande van Bever 1 collaboration

Saskia N van der Crabben 1 collaboration

Marjon A van Slegtenhorst 1 collaboration

Quinten Waisfisz 1 collaboration

Camerun Washington 1 collaboration

Lance H Rodan 1 collaboration

Richard M Myers 1 collaboration

Gregory M Cooper 1 collaboration

Daniel O Dodd 1 collaboration

Sabrina Mechaussier 1 collaboration

Patricia L Yeyati 1 collaboration

Fraser McPhie 1 collaboration

Jacob R Anderson 1 collaboration

Chen Jing Khoo 1 collaboration

Amelia Shoemark 1 collaboration

Deepesh K Gupta 1 collaboration

Thomas Attard 1 collaboration

Maimoona A Zariwala 1 collaboration

Marie Legendre 1 collaboration

Diana Bracht 1 collaboration

Julia Wallmeier 1 collaboration

Miao Gui 1 collaboration

Mahmoud R Fassad 1 collaboration

David A Parry 1 collaboration

Peter A Tennant 1 collaboration

Alison Meynert 1 collaboration

Gabrielle Wheway 1 collaboration

Lucas Fares-Taie 1 collaboration

Holly A Black 1 collaboration

Rana Mitri-Frangieh 1 collaboration

Catherine Faucon 1 collaboration

Josseline Kaplan 1 collaboration

Mitali Patel 1 collaboration

Lisa McKie 1 collaboration

Roly Megaw 1 collaboration

Christos Gatsogiannis 1 collaboration

Mai A Mohamed 1 collaboration

Stuart Aitken 1 collaboration

Philippe Gautier 1 collaboration

Finn R Reinholt 1 collaboration

Robert A Hirst 1 collaboration

Chris O'Callaghan 1 collaboration

Ketil Heimdal 1 collaboration

Mathieu Bottier 1 collaboration

Estelle Escudier 1 collaboration

Suzanne Crowley 1 collaboration

Ethylin W Jabs 1 collaboration

Priti Kenia 1 collaboration

Jeanne Amiel 1 collaboration

Giacomo Maria Bacci 1 collaboration

Claudia Calogero 1 collaboration

Viviana Palazzo 1 collaboration

Lucia Tiberi 1 collaboration

Ulrike Blümlein 1 collaboration

Andrew Rogers 1 collaboration

Jennifer A Wambach 1 collaboration

Daniel J Wegner 1 collaboration

Anne B Fulton 1 collaboration

Margaret Kenna 1 collaboration

Margaret Rosenfeld 1 collaboration

Ingrid A Holm 1 collaboration

Alan Quigley 1 collaboration

Emma A Hall 1 collaboration

Laura C Murphy 1 collaboration

Diane M Cassidy 1 collaboration

Alex von Kriegsheim 1 collaboration

Jean-François Papon 1 collaboration

Laurent Pasquier 1 collaboration

Marlène S Murris 1 collaboration

James D Chalmers 1 collaboration

Claire Hogg 1 collaboration

Kenneth A Macleod 1 collaboration

Don S Urquhart 1 collaboration

Stefan Unger 1 collaboration

Timothy J Aitman 1 collaboration

Serge Amselem 1 collaboration

Margaret W Leigh 1 collaboration

Michael R Knowles 1 collaboration

Heymut Omran 1 collaboration

Hannah M Mitchison 1 collaboration

Alan Brown 1 collaboration

Joseph A Marsh 1 collaboration

Julie P I Welburn 1 collaboration

Shih-Chieh Ti 1 collaboration

Amjad Horani 1 collaboration

Jean-Michel Rozet 1 collaboration

Isabelle Perrault 1 collaboration

Pleasantine Mill 1 collaboration

Marco Angelozzi 1 collaboration

Anirudha Karvande 1 collaboration

Arnaud N Molin 1 collaboration

Alyssa L Ritter 1 collaboration

Jacqueline M M Leonard 1 collaboration

Juliann M Savatt 1 collaboration

Kristen Douglass 1 collaboration

Scott M Myers 1 collaboration

Mina Grippa 1 collaboration

Dara Tolchin 1 collaboration

Elaine Zackai 1 collaboration

Sarah Donoghue 1 collaboration

Danita Velasco 1 collaboration

Andrew Schmanski 1 collaboration

Amy Crunk 1 collaboration

Mari J Tokita 1 collaboration

Iris M de Lange 1 collaboration

Koen van Gassen 1 collaboration

Hannah Robinson 1 collaboration

Katie Guegan 1 collaboration

Mohnish Suri 1 collaboration

Chirag Patel 1 collaboration

Marie Bournez 1 collaboration

Laurence Faivre 1 collaboration

Frédéric Tran-Mau-Them 1 collaboration

Janice Baker 1 collaboration

Noelle Fabie 1 collaboration

K Weaver 1 collaboration

Amelle Shillington 1 collaboration

Robert J Hopkin 1 collaboration

Daniela Q C M Barge-Schaapveld 1 collaboration

Claudia Al Ruivenkamp 1 collaboration

Regina Bökenkamp 1 collaboration

Samantha Vergano 1 collaboration

Maria Noelia Seco Moro 1 collaboration

Aranzazu Díaz de Bustamante 1 collaboration

Vinod K Misra 1 collaboration

Kelly Kennelly 1 collaboration

Caleb Rogers 1 collaboration

Jennifer Friedman 1 collaboration

Kristen M Wigby 1 collaboration

Jerica Lenberg 1 collaboration

Claudio Graziano 1 collaboration

Rebecca C Ahrens-Nicklas 1 collaboration

Veronique Lefebvre 1 collaboration

Newell Belnap 1 collaboration

Aiai Price-Smith 1 collaboration

Keri Ramsey 1 collaboration

Kamawela Leka 1 collaboration

Anna Abraham 1 collaboration

Emma Lieberman 1 collaboration

Katie Hassett 1 collaboration

Sai Potu 1 collaboration

Natasha Rudy 1 collaboration

Fady M Mikhail 1 collaboration

Kirstin G Monaghan 1 collaboration

Andrea Hendershot 1 collaboration

Jeroen Mourmans 1 collaboration

Matthew J Huentelman 1 collaboration

Jennifer Sills 1 collaboration

Sampath Rangasamy 1 collaboration

Vinodh Narayanan 1 collaboration

Mike W Zhang 1 collaboration

Stephanie T Bustros 1 collaboration

Tyler E Gaston 1 collaboration

Shruti P Agnihotri 1 collaboration

Janina Sörmann 1 collaboration

Marcus Schewe 1 collaboration

Peter Proks 1 collaboration

Thibault Jouen-Tachoire 1 collaboration

Shanlin Rao 1 collaboration

Elena B Riel 1 collaboration

Katherine E Agre 1 collaboration

Amber Begtrup 1 collaboration

John Dean 1 collaboration

Jan Fischer 1 collaboration

Alice Gardham 1 collaboration

Carrie Lahner 1 collaboration

Paul R Mark 1 collaboration

Srikanth Muppidi 1 collaboration

Pavel N Pichurin 1 collaboration

Joseph Porrmann 1 collaboration

Jens Schallner 1 collaboration

Volker Straub 1 collaboration

Pradeep Vasudevan 1 collaboration

Rebecca Willaert 1 collaboration

Elisabeth P Carpenter 1 collaboration

Karin E J Rödström 1 collaboration

Michael G Hahn 1 collaboration

Thomas Müller 1 collaboration

Thomas Baukrowitz 1 collaboration

Matthew E Hurles 1 collaboration

Caroline F Wright 1 collaboration

Stephen J Tucker 1 collaboration