C G Bönnemann

Affiliations
  • Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. Carsten.bonnemann@nih.gov.

Publications (88)

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Developmental cell
Avec: Deanne M Taylor , Bruce J Aronow , Kai Tan , Kathrin Bernt , Nathan Salomonis , Casey S Greene , Alina Frolova , Sarah E Henrickson , Andrew Wells , Liming Pei , Jyoti K Jaiswal , Jeffrey Whitsett , Kathryn E Hamilton , Sonya A MacParland , Judith Kelsen , Robert O Heuckeroth , S Steven Potter , Laura A Vella , Natalie A Terry , Louis R Ghanem , Benjamin C Kennedy , Ingo Helbig , Kathleen E Sullivan , Leslie Castelo-Soccio , Arnold Kreigstein , Florian Herse , Martijn C Nawijn , Gerard H Koppelman , Melissa Haendel , Nomi L Harris , Jo Lynne Rokita , Yuanchao Zhang , Aviv Regev , Orit Rozenblatt-Rosen , Jennifer E Rood , Timothy L Tickle , Roser Vento-Tormo , Saif Alimohamed , Monkol Lek , Jessica C Mar , Kathleen M Loomes , David M Barrett , Prech Uapinyoying , Alan H Beggs , Pankaj B Agrawal , Yi-Wen Chen , Amanda B Muir , Lana X Garmire , Scott B Snapper , Javad Nazarian , Steven H Seeholzer , Hossein Fazelinia , Larry N Singh , Robert B Faryabi , Pichai Raman , Noor Dawany , Hongbo Michael Xie , Batsal Devkota , Sharon J Diskin , Stewart A Anderson , Eric F Rappaport , William Peranteau , Kathryn A Wikenheiser-Brokamp , Sarah Teichmann , Douglas Wallace , Tao Peng , Yang-Yang Ding , Man S Kim , Yi Xing , Sek Won Kong , Carsten G Bönnemann , Kenneth D Mandl , Peter S White

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

Nature communications
Avec: María Cristina Estañ , Elisa Fernández-Núñez , Maha S Zaki , María Isabel Esteban , Sandra Donkervoort , Cynthia Hawkins , José A Caparros-Martin , Dimah Saade , Ying Hu , Véronique Bolduc , Katherine Ru-Yui Chao , Julián Nevado , Ana Lamuedra , Raquel Largo , Gabriel Herrero-Beaumont , Javier Regadera , Concepción Hernandez-Chico , Eduardo F Tizzano , Victor Martinez-Glez , Jaime J Carvajal , Ruiting Zong , David L Nelson , Ghada A Otaify , Samia Temtamy , Mona Aglan , Mahmoud Issa , Carsten G Bönnemann , Pablo Lapunzina , Grace Yoon , Victor L Ruiz-Perez

Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders.

Journal of neuromuscular diseases
Avec: Anna Kuo , Joshua J Todd , Jessica W Witherspoon , Tokunbor A Lawal , Jeffery Elliott , Irene C Chrismer , Monique O Shelton , Muslima S Razaqyar , Minal S Jain , Ruhi Vasavada , Melissa Waite , Bart Drinkard , Darren Michael , Alicia Richarte , Carsten G Bönnemann , Katherine G Meilleur

Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy.

Neurology(R) neuroimmunology & neuroinflammation
Avec: Payam Mohassel , Océane Landon-Cardinal , A Reghan Foley , Sandra Donkervoort , Katherine S Pak , Colleen Wahl , Robert T Shebert , Amy Harper , Pierre Fequiere , Matthew Meriggioli , Camilo Toro , Daniel Drachman , Yves Allenbach , Olivier Benveniste , Anthony Béhin , Bruno Eymard , Pascal Lafôret , Tanya Stojkovic , Andrew L Mammen , Carsten G Bönnemann

Randomized controlled trial of

Neurology
Avec: Joshua J Todd , Tokunbor A Lawal , Jessica W Witherspoon , Irene C Chrismer , Muslima S Razaqyar , Monal Punjabi , Jeffrey S Elliott , Fatoumata Tounkara , Anna Kuo , Monique O Shelton , Carolyn Allen , Mary M Cosgrove , Melody Linton , Darren Michael , Minal S Jain , Melissa Waite , Bart Drinkard , Paul G Wakim , James J Dowling , Carsten G Bönnemann , Magalie Emile-Backer , Katherine G Meilleur

Human embryoid bodies as a 3D tissue model of the extracellular matrix and α-dystroglycanopathies.

Disease models & mechanisms
Avec: Alec R Nickolls , Michelle M Lee , Kristen Zukosky , Barbara S Mallon , Carsten G Bönnemann

Adult

Neurology
Avec: Benjamin T Cocanougher , Lauren Flynn , Pomi Yun , Minal Jain , Melissa Waite , Ruhi Vasavada , Jason D Wittenbach , Sabine de Chastonay , Sameer Chhibber , A Micheil Innes , Linda MacLaren , Tahseen Mozaffar , Andrew E Arai , Sandra Donkervoort , Carsten G Bönnemann , A Reghan Foley

Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance.

Journal of neuromuscular diseases
Avec: Tina Duong , Gale Harding , Sally Mannix , Cristina Abel , Dawn Phillips , Lindsay N Alfano , Carsten G Bönnemann , Charlotte Lilien , Linda P Lowes , Laurent Servais , Birgit Warken-Madelung , Susie Nieto Bergman , Emma S James , Mojtaba Noursalehi , Suyash Prasad , Salvador Rico , Deborah A Bilder

Multi-system neurological disorder associated with a CRYAB variant.

Neurogenetics
Avec: Menachem Sadeh , Dolev Rahat , Vardiella Meiner , Yakov Fellig , Michael Arad , Ora Schueler-Furman , Ying Hu , Yan Li , Carsten G Bönnemann , Alexander Lossos

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Chiara Klöckner , Heinrich Sticht , Pia Zacher , Bernt Popp , Holly E Babcock , Dewi P Bakker , Katy Barwick , Michaela V Bonfert , Carsten G Bönnemann , Eva H Brilstra , Auteur inconnu , Wendy K Chung , Angus J Clarke , Patrick Devine , Sandra Donkervoort , Jamie L Fraser , Jennifer Friedman , Alyssa Gates , Jamal Ghoumid , Emma Hobson , Gabriella Horvath , Jennifer Keller-Ramey , Boris Keren , Manju A Kurian , Virgina Lee , Kathleen A Leppig , Johan Lundgren , Marie T McDonald , Heather M McLaughlin , Amy McTague , Heather C Mefford , Cyril Mignot , Mohamad A Mikati , Caroline Nava , F Lucy Raymond , Julian R Sampson , Alba Sanchis-Juan , Vandana Shashi , Joseph T C Shieh , Marwan Shinawi , Anne Slavotinek , Tommy Stödberg , Nicholas Stong , Jennifer A Sullivan , Ashley C Taylor , Tomi L Toler , Marie-José van den Boogaard , Saskia N van der Crabben , Koen L I van Gassen , Richard H van Jaarsveld , Jessica Van Ziffle , Alexandrea F Wadley , Matias Wagner , Kristen Wigby , Saskia B Wortmann , Yuri A Zarate , Rikke S Møller , Johannes R Lemke , Konrad Platzer

Myogenic tremor - a novel tremor entity.

Current opinion in neurology
Avec: Jochen Schaefer , Annika Saak , Carsten G Bönnemann , Sandra Jackson

International retrospective natural history study of

Brain communications
Avec: Rabah Ben Yaou , Pomi Yun , Ivana Dabaj , Gina Norato , Sandra Donkervoort , Hui Xiong , Andrés Nascimento , Lorenzo Maggi , Anna Sarkozy , Soledad Monges , Marta Bertoli , Hirofumi Komaki , Michèle Mayer , Eugenio Mercuri , Edmar Zanoteli , Claudia Castiglioni , Chiara Marini-Bettolo , Adele D'Amico , Nicolas Deconinck , Isabelle Desguerre , Ricardo Erazo-Torricelli , Juliana Gurgel-Giannetti , Akihiko Ishiyama , Karin S Kleinsteuber , Emmanuelle Lagrue , Vincent Laugel , Sandra Mercier , Sonia Messina , Luisa Politano , Monique M Ryan , Pascal Sabouraud , Ulrike Schara , Gabriele Siciliano , Liliana Vercelli , Thomas Voit , Grace Yoon , Rachel Alvarez , Francesco Muntoni , Tyler M Pierson , David Gómez-Andrés , A Reghan Foley , Susana Quijano-Roy , Carsten G Bönnemann , Gisèle Bonne

Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.

Neuropediatrics
Avec: Luisa Averdunk , Sandra Donkervoort , Denise Horn , Stephan Waldmüller , Safoora Syeda , Sarah B Neuhaus , Katherine R Chao , Anne van Riesen , Darja Gauck , Tobias Haack , Anna S Japp , Unaa Lee , Carsten G Bönnemann , Ertan Mayatepek , Felix Distelmaier

Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.

HGG advances
Avec: Janelle Geist Hauserman , Chamindra G Laverty , Sandra Donkervoort , Ying Hu , Sarah Silverstein , Sarah B Neuhaus , Dimah Saade , Gabrielle Vaughn , Denise Malicki , Rupleen Kaur , Yuesheng Li , Yan Luo , Poching Liu , Patrick Burr , A Reghan Foley , Payam Mohassel , Carsten G Bönnemann

Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.

bioRxiv : the preprint server for biology
Avec: Véronique Bolduc , Katherine Sizov , Astrid Brull , Eric Esposito , Grace S Chen , Prech Uapinyoying , Apurva Sarathy , Kory Johnson , Carsten G Bönnemann

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.

The Journal of clinical investigation
Avec: Museer A Lone , Mari J Aaltonen , Aliza Zidell , Helio F Pedro , Jonas A Morales Saute , Shalett Mathew , Payam Mohassel , Carsten G Bönnemann , Eric A Shoubridge , Thorsten Hornemann

Biallelic variants in

HGG advances
Avec: Kyle Thompson , Lucas Bianchi , Francesca Rastelli , Florence Piron-Prunier , Sophie Ayciriex , Claude Besmond , Laurence Hubert , Magalie Barth , Inês A Barbosa , Charu Deshpande , Manali Chitre , Sarju G Mehta , Eric J M Wever , Pascale Marcorelles , Sandra Donkervoort , Dimah Saade , Carsten G Bönnemann , Katherine R Chao , Chunyu Cai , Susan T Iannaccone , Andrew F Dean , Robert McFarland , Frédéric M Vaz , Agnès Delahodde , Robert W Taylor , Agnès Rötig

Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy.

Neurology. Genetics
Avec: A Reghan Foley , Pomi Yun , Meganne E Leach , Sarah B Neuhaus , Gilberto V Averion , Ying Hu , Leslie H Hayes , Sandra Donkervoort , Minal S Jain , Melissa Waite , Rebecca Parks , Diana X Bharucha-Goebel , Oscar H Mayer , Yaqun Zou , Margaret Fink , Jameice DeCoster , Christopher Mendoza , Cynthia Arévalo , Rudolf Hausmann , Diana Petraki , Ken Cheung , Carsten G Bönnemann

Meeting Report: 2023 Muscular Dystrophy Association Summit on 'Safety and Challenges in Gene Therapy of Neuromuscular Diseases'.

Journal of neuromuscular diseases
Avec: Angela Lek , Evrim Atas , Brian Lin , Sharon E Hesterlee , Jordan K Abbott , Barry J Byrne , Carsten G Bönnemann

Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation.

HGG advances
Avec: Sarah Silverstein , Rotem Orbach , Safoora Syeda , A Reghan Foley , Svetlana Gorokhova , Katherine G Meilleur , Meganne E Leach , Prech Uapinyoying , Katherine R Chao , Sandra Donkervoort , Carsten G Bönnemann

A Cross-Sectional Study of Nemaline Myopathy.

Neurology
Avec: Kimberly Amburgey , Meryl Acker , Samia Saeed , Reshma Amin , Alan H Beggs , Carsten G Bönnemann , Michael Brudno , Andrei Constantinescu , Jahannaz Dastgir , Mamadou Diallo , Casie A Genetti , Michael Glueck , Stacy Hewson , Courtney Hum , Minal S Jain , Michael W Lawlor , Oscar H Meyer , Leslie Nelson , Nicole Sultanum , Faiza Syed , Tuyen Tran , Ching H Wang , James J Dowling

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.

Epilepsia
Avec: Amy L Schneider , Candace T Myers , Alison M Muir , Sophie Calvert , Alice Basinger , M Scott Perry , Lance Rodan , Katherine L Helbig , Chelsea Chambers , Kathleen M Gorman , Mary D King , Sandra Donkervoort , Ariane Soldatos , Carsten G Bönnemann , Nino Spataro , Elisabeth Gabau , Montserrat Arellano , Gerarda Cappuccio , Nicola Brunetti-Pierri , Elsa Rossignol , Fadi F Hamdan , Jacques L Michaud , Christopher Balak , Heather C Mefford , Ingrid E Scheffer

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.

The Journal of clinical investigation
Avec: Martijn van de Locht , Sandra Donkervoort , Josine M de Winter , Stefan Conijn , Leon Begthel , Benno Kusters , Payam Mohassel , Ying Hu , Livija Medne , Colin Quinn , Steven A Moore , A Reghan Foley , Gwimoon Seo , Darren T Hwee , Fady I Malik , Thomas Irving , Weikang Ma , Henk L Granzier , Erik-Jan Kamsteeg , Kalyan Immadisetty , Peter Kekenes-Huskey , José R Pinto , Nicol Voermans , Carsten G Bönnemann , Coen Ac Ottenheijm

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 , Carla Grosmann , 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

Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans.

Nature communications
Avec: Laura K Case , Jaquette Liljencrantz , Nicholas Madian , Aaron Necaise , Justin Tubbs , Micaela McCall , Megan L Bradson , Marcin Szczot , Mark H Pitcher , Nima Ghitani , Eleni Frangos , Jonathan Cole , Diana Bharucha-Goebel , Dimah Saade , Tracy Ogata , Sandra Donkervoort , A Reghan Foley , Carsten G Bönnemann , Håkan Olausson , M Catherine Bushnell , Alexander T Chesler

Dominant collagen XII mutations cause a distal myopathy.

Annals of clinical and translational neurology
Avec: Payam Mohassel , Teerin Liewluck , Ying Hu , Daniel Ezzo , Tracy Ogata , Dimah Saade , Sarah Neuhaus , Véronique Bolduc , Yaqun Zou , Sandra Donkervoort , Livija Medne , Charlotte J Sumner , P James B Dyck , Klaas J Wierenga , Gihan Tennekoon , Richard S Finkel , Jiani Chen , Thomas L Winder , Nathan P Staff , A Reghan Foley , Manuel Koch , Carsten G Bönnemann

Clinical, genetic, and pathologic characterization of

Neurology. Genetics
Avec: Angela J Lee , Karra A Jones , Russell J Butterfield , Mary O Cox , Chamindra G Konersman , Carla Grosmann , 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

Transcriptional Programming of Human Mechanosensory Neuron Subtypes from Pluripotent Stem Cells.

Cell reports
Avec: Alec R Nickolls , Michelle M Lee , David F Espinoza , Marcin Szczot , Ruby M Lam , Qi Wang , Jeanette Beers , Jizhong Zou , Minh Q Nguyen , Hans J Solinski , Aisha A AlJanahi , Kory R Johnson , Michael E Ward , Alexander T Chesler , Carsten G Bönnemann

The clinical, histologic, and genotypic spectrum of

Neurology
Avec: Rocio N Villar-Quiles , Maja von der Hagen , Corinne Métay , Victoria Gonzalez , Sandra Donkervoort , Enrico Bertini , Claudia Castiglioni , Denys Chaigne , Jaume Colomer , Maria Luz Cuadrado , Marianne de Visser , Isabelle Desguerre , Bruno Eymard , Nathalie Goemans , Angela Kaindl , Emmanuelle Lagrue , Jürg Lütschg , Edoardo Malfatti , Michèle Mayer , Luciano Merlini , David Orlikowski , Ulrike Reuner , Mustafa A Salih , Beate Schlotter-Weigel , Mechthild Stoetter , Volker Straub , Haluk Topaloglu , J Andoni Urtizberea , Anneke van der Kooi , Ekkehard Wilichowski , Norma B Romero , Michel Fardeau , Carsten G Bönnemann , Brigitte Estournet , Pascale Richard , Susana Quijano-Roy , Ulrike Schara , Ana Ferreiro

Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD.

Molecular therapy. Nucleic acids
Avec: Sara Aguti , Véronique Bolduc , Pierpaolo Ala , Mark Turmaine , Carsten G Bönnemann , Francesco Muntoni , Haiyan Zhou

Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study.

Journal of neuromuscular diseases
Avec: Abhinandan Batra , Donovan J Lott , Rebecca Willcocks , Sean C Forbes , William Triplett , Jahannaz Dastgir , Pomi Yun , A Reghan Foley , Carsten G Bönnemann , Krista Vandenborne , Glenn A Walter

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

EMBO molecular medicine
Avec: Sandra Donkervoort , Niklas Krause , Mykola Dergai , Pomi Yun , Judith Koliwer , Svetlana Gorokhova , Janelle Geist Hauserman , Beryl B Cummings , Ying Hu , Rosemarie Smith , Prech Uapinyoying , Vijay S Ganesh , Partha S Ghosh , Kristin G Monaghan , Seby L Edassery , Pia E Ferle , Sarah Silverstein , Katherine R Chao , Molly Snyder , Sara Ellingwood , Diana Bharucha-Goebel , Susan T Iannaccone , Matteo Dal Peraro , A Reghan Foley , Jeffrey N Savas , Véronique Bolduc , Dirk Fasshauer , Carsten G Bönnemann , Michael Schwake

INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.

Journal of neuromuscular diseases
Avec: James J Dowling , Wolfgang Müller-Felber , Barbara K Smith , Carsten G Bönnemann , Nancy L Kuntz , Francesco Muntoni , Laurent Servais , Lindsay N Alfano , Alan H Beggs , Deborah A Bilder , Astrid Blaschek , Tina Duong , Robert J Graham , Minal Jain , Michael W Lawlor , Jun Lee , Julie Coats , Charlotte Lilien , Linda P Lowes , Victoria MacBean , Sarah Neuhaus , Mojtaba Noursalehi , Teresa Pitts , Caroline Finlay , Sarah Christensen , Gerrard Rafferty , Andreea M Seferian , Etsuko Tsuchiya , Emma S James , Weston Miller , Bryan Sepulveda , Maria Candida Vila , Suyash Prasad , Salvador Rico , Perry B Shieh , Auteur inconnu

Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy.

Molecular therapy. Nucleic acids
Avec: Véronique Bolduc , Katherine Sizov , Astrid Brull , Eric Esposito , Grace S Chen , Prech Uapinyoying , Apurva Sarathy , Kory R Johnson , Carsten G Bönnemann

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Brain : a journal of neurology
Avec: Birk Möller , Lena-Luise Becker , Afshin Saffari , Alexandra Afenjar , Emanuele G Coci , Rachel Williamson , Catherine Ward-Melver , Marc Gibaud , Lucie Sedláčková , Petra Laššuthová , Zuzana Libá , Markéta Vlčková , Nancy William , Eric W Klee , Ralitza H Gavrilova , Jonathan Lévy , Yline Capri , Mena Scavina , Robert Walter Körner , Zaheer Valuvullah , Claudia Weiß , Greta Marit Möller , Moritz Thiel , Margje Sinnema , Erik-Jan Kamsteeg , Sandra Donkervoort , Veronique Duboc , Khaoula Zaafrane-Khachnaoui , Nour Elkhateeb , Laila Selim , Henri Margot , Victor Marin , Claire Beneteau , Bertrand Isidor , Benjamin Cogne , Boris Keren , Benno Küsters , Alan H Beggs , Casie A Genetti , Joost Nicolai , Jörg Dötsch , Anne Koy , Carsten G Bönnemann , Maja von der Hagen , Jürgen-Christoph von Kleist-Retzow , Nicol Voermans , Heinz Jungbluth , Hormos Salimi Dafsari

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.

Neuropathology and applied neurobiology
Avec: Chiara Fiorillo , Giovanna Capodivento , Alessandro Geroldi , Stefano Tozza , Isabella Moroni , Payam Mohassel , Matteo Cataldi , Chiara Campana , Simone Morando , Chiara Panicucci , Marina Pedemonte , Noemi Brolatti , Sabrina Siliquini , Monica Traverso , Serena Baratto , Doriana Debellis , Stefania Magri , Valeria Prada , Emilia Bellone , Vincenzo Salpietro , Sandra Donkervoort , Kenneth Gable , Sita D Gupta , Teresa M Dunn , Carsten G Bönnemann , Franco Taroni , Claudio Bruno , Angelo Schenone , Paola Mandich , Lucilla Nobbio , Maria Nolano

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Acta neuropathologica
Avec: Andres Nascimento , Christine C Bruels , Sandra Donkervoort , A Reghan Foley , Anna Codina , Jose C Milisenda , Elicia A Estrella , Chengcheng Li , Jordi Pijuan , Isabelle Draper , Ying Hu , Seth A Stafki , Lynn S Pais , Vijay S Ganesh , Anne O'Donnell-Luria , Safoora B Syeda , Laura Carrera-García , Jessica Expósito-Escudero , Delia Yubero , Loreto Martorell , Iago Pinal-Fernandez , Hart G W Lidov , Andrew L Mammen , Josep M Grau-Junyent , Carlos Ortez , Francesc Palau , Partha S Ghosh , Basil T Darras , Cristina Jou , Louis M Kunkel , Janet Hoenicka , Carsten G Bönnemann , Peter B Kang , Daniel Natera-de Benito

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.

Annals of clinical and translational neurology
Avec: Payam Mohassel , Pomi Yun , Safoora Syeda , Abhinandan Batra , Andrew J Bradley , Sandra Donkervoort , Soledad Monges , Julie S Cohen , Doris G Leung , Francina Munell , Carlos Ortez , Angel Sánchez-Montáñez , Peter Karachunski , John Brandsema , Livija Medne , Vinay Chaudhry , Giorgio Tasca , A Reghan Foley , Bjarne Udd , Andrew E Arai , Glenn A Walter , Carsten G Bönnemann

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.

medRxiv : the preprint server for health sciences
Avec: Gabrielle Lemire , Alba Sanchis-Juan , Kathryn Russell , Samantha Baxter , Katherine R Chao , Moriel Singer-Berk , Emily Groopman , Isaac Wong , Eleina England , Julia Goodrich , Lynn Pais , Christina Austin-Tse , Stephanie DiTroia , Emily O'Heir , Vijay S Ganesh , Monica H Wojcik , Emily Evangelista , Hana Snow , Ikeoluwa Osei-Owusu , Jack Fu , Mugdha Singh , Yulia Mostovoy , Steve Huang , Kiran Garimella , Samantha L Kirkham , Jennifer E Neil , Diane D Shao , Christopher A Walsh , Emanuela Argili , Carolyn Le , Elliott H Sherr , Joseph Gleeson , Shirlee Shril , Ronen Schneider , Friedhelm Hildebrandt , Vijay G Sankaran , Jill A Madden , Casie A Genetti , Alan H Beggs , Pankaj B Agrawal , Kinga M Bujakowska , Emily Place , Eric A Pierce , Sandra Donkervoort , Carsten G Bönnemann , Lyndon Gallacher , Zornitza Stark , Tiong Tan , Susan M White , Ana Töpf , Volker Straub , Mark D Fleming , Martin R Pollak , Katrin Õunap , Sander Pajusalu , Kirsten A Donald , Zandre Bruwer , Gianina Ravenscroft , Nigel G Laing , Daniel G MacArthur , Heidi L Rehm , Michael E Talkowski , Harrison Brand , Anne O'Donnell-Luria

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Annals of clinical and translational neurology
Avec: Sandra Donkervoort , Payam Mohassel , Melanie O'Leary , Devon E Bonner , Taila Hartley , Nicole Acquaye , Astrid Brull , Tahseen Mozaffar , Mario A Saporta , David A Dyment , Jacinda B Sampson , Sander Pajusalu , Christina Austin-Tse , Kyle Hurth , Julie S Cohen , Kirsty McWalter , Jodi Warman-Chardon , Amy Crunk , A Reghan Foley , Auteur inconnu , Andrew L Mammen , Matthew T Wheeler , Anne O'Donnell-Luria , Carsten G Bönnemann

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

American journal of human genetics
Avec: Gabrielle Lemire , Alba Sanchis-Juan , Kathryn Russell , Samantha Baxter , Katherine R Chao , Moriel Singer-Berk , Emily Groopman , Isaac Wong , Eleina England , Julia Goodrich , Lynn Pais , Christina Austin-Tse , Stephanie DiTroia , Emily O'Heir , Vijay S Ganesh , Monica H Wojcik , Emily Evangelista , Hana Snow , Ikeoluwa Osei-Owusu , Jack Fu , Mugdha Singh , Yulia Mostovoy , Steve Huang , Kiran Garimella , Samantha L Kirkham , Jennifer E Neil , Diane D Shao , Christopher A Walsh , Emanuela Argilli , Carolyn Le , Elliott H Sherr , Joseph G Gleeson , Shirlee Shril , Ronen Schneider , Friedhelm Hildebrandt , Vijay G Sankaran , Jill A Madden , Casie A Genetti , Alan H Beggs , Pankaj B Agrawal , Kinga M Bujakowska , Emily Place , Eric A Pierce , Sandra Donkervoort , Carsten G Bönnemann , Lyndon Gallacher , Zornitza Stark , Tiong Yang Tan , Susan M White , Ana Töpf , Volker Straub , Mark D Fleming , Martin R Pollak , Katrin Õunap , Sander Pajusalu , Kirsten A Donald , Zandre Bruwer , Gianina Ravenscroft , Nigel G Laing , Daniel G MacArthur , Heidi L Rehm , Michael E Talkowski , Harrison Brand , Anne O'Donnell-Luria

Intrathecal Gene Therapy for Giant Axonal Neuropathy.

The New England journal of medicine
Avec: Diana X Bharucha-Goebel , Joshua J Todd , Dimah Saade , Gina Norato , Minal Jain , Tanya Lehky , Rachel M Bailey , Jessica A Chichester , Roberto Calcedo , Diane Armao , A Reghan Foley , Payam Mohassel , Eshetu Tesfaye , Bradley P Carlin , Beth Seremula , Melissa Waite , Wadih M Zein , Laryssa A Huryn , Thomas O Crawford , Charlotte J Sumner , Ahmet Hoke , John D Heiss , Lawrence Charnas , Jody E Hooper , Thomas W Bouldin , Elizabeth M Kang , Denis Rybin , Steven J Gray , Carsten G Bönnemann , Auteur inconnu

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 , Carla Grosmann , 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

Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs.

Neuromuscular disorders : NMD
Avec: Véronique Bolduc , Katie M Minor , Ying Hu , Rupleen Kaur , Steven G Friedenberg , Samantha Van Buren , Ling T Guo , Joseph C Glennon , Katia Marioni-Henry , James R Mickelson , Carsten G Bönnemann , G Diane Shelton

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Human molecular genetics
Avec: Rosa Woldegebriel , Jouni Kvist , Noora Andersson , Katrin Õunap , Karit Reinson , Monica H Wojcik , Emilia K Bijlsma , Mariëtte J V Hoffer , Monique M Ryan , Zornitza Stark , Maie Walsh , Inge Cuppen , Marie-Jose H van den Boogaard , Diana Bharucha-Goebel , Sandra Donkervoort , Sara Winchester , Roberto Zori , Carsten G Bönnemann , Reza Maroofian , Emer O'Connor , Henry Houlden , Fang Zhao , Olli Carpén , Matthew White , Jemeen Sreedharan , Murray Stewart , Emil Ylikallio , Henna Tyynismaa

Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients.

Neuromuscular disorders : NMD
Avec: Ranjini Srinivasan , Pomi Yun , Sarah Neuhaus , Payam Mohassel , Jahannaz Dastgir , Sandra Donkervoort , Alice Schindler , Ami Mankodi , A Reghan Foley , Andrew E Arai , Carsten G Bönnemann

MYO-MRI diagnostic protocols in genetic myopathies.

Neuromuscular disorders : NMD
Avec: Jodi Warman Chardon , Jordi Díaz-Manera , Giorgio Tasca , Carsten G Bönnemann , David Gómez-Andrés , Arend Heerschap , Eugenio Mercuri , Francesco Muntoni , Anna Pichiecchio , Enzo Ricci , Maggie C Walter , Michael Hanna , Heinz Jungbluth , Jasper M Morrow , Roberto Fernández-Torrón , Bjarne Udd , John Vissing , Tarek Yousry , Susana Quijano-Roy , Volker Straub , Robert Y Carlier , Auteur inconnu

An ultrafast system for signaling mechanical pain in human skin.

Science advances
Avec: Saad S Nagi , Andrew G Marshall , Adarsh Makdani , Ewa Jarocka , Jaquette Liljencrantz , Mikael Ridderström , Sumaiya Shaikh , Francis O'Neill , Dimah Saade , Sandra Donkervoort , A Reghan Foley , Jan Minde , Mats Trulsson , Jonathan Cole , Carsten G Bönnemann , Alexander T Chesler , M Catherine Bushnell , Francis McGlone , Håkan Olausson

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

Acta neuropathologica
Avec: Xavière Lornage , Norma B Romero , Claire A Grosgogeat , Edoardo Malfatti , Sandra Donkervoort , Michael M Marchetti , Sarah B Neuhaus , A Reghan Foley , Clémence Labasse , Raphaël Schneider , Robert Y Carlier , Katherine R Chao , Livija Medne , Jean-François Deleuze , David Orlikowski , Carsten G Bönnemann , Vandana A Gupta , Michel Fardeau , Johann Böhm , Jocelyn Laporte

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.

Annals of neurology
Avec: Janis Stavusis , Baiba Lace , Jochen Schäfer , Janelle Geist , Inna Inashkina , Dita Kidere , Sander Pajusalu , Nathan T Wright , Annika Saak , Manja Weinhold , Dietrich Haubenberger , Sandra Jackson , Aikaterini Kontrogianni-Konstantopoulos , Carsten G Bönnemann

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Neurogenetics
Avec: David B Beck , T Subramanian , S Vijayalingam , Uthayashankar R Ezekiel , Sandra Donkervoort , Michele L Yang , Holly A Dubbs , Xilma R Ortiz-Gonzalez , Shenela Lakhani , Devorah Segal , Margaret Au , John M Graham , Sumit Verma , Darrel Waggoner , Marwan Shinawi , Carsten G Bönnemann , Wendy K Chung , G Chinnadurai

The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics.

Seminars in pediatric neurology
Avec: Dimah N Saade , Sarah B Neuhaus , A Reghan Foley , Carsten G Bönnemann

Designer AAV muscle up.

Cell
Avec: Carsten G Bönnemann

Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in Collagen VI-Related Dystrophies and Laminin Alpha2-Related Muscular Dystrophy.

Archives of physical medicine and rehabilitation
Avec: Laure Le Goff , Katherine G Meilleur , Gina Norato , Pascal Rippert , Minal Jain , Margaret Fink , A Reghan Foley , Melissa Waite , Sandra Donkervoort , Carsten G Bönnemann , Carole Vuillerot

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Nature communications
Avec: Sukhleen Kour , Deepa S Rajan , Tyler R Fortuna , Eric N Anderson , Caroline Ward , Youngha Lee , Sangmoon Lee , Yong Beom Shin , Jong-Hee Chae , Murim Choi , Karine Siquier , Vincent Cantagrel , Jeanne Amiel , Elliot S Stolerman , Sarah S Barnett , Margot A Cousin , Diana Castro , Kimberly McDonald , Brian Kirmse , Andrea H Nemeth , Dhivyaa Rajasundaram , A Micheil Innes , Danielle Lynch , Patrick Frosk , Abigail Collins , Melissa Gibbons , Michele Yang , Isabelle Desguerre , Nathalie Boddaert , Cyril Gitiaux , Siri Lynne Rydning , Kaja K Selmer , Roser Urreizti , Alberto Garcia-Oguiza , Andrés Nascimento Osorio , Edgard Verdura , Aurora Pujol , Hannah R McCurry , John E Landers , Sameer Agnihotri , E Corina Andriescu , Shade B Moody , Chanika Phornphutkul , Maria J Guillen Sacoto , Amber Begtrup , Henry Houlden , Janbernd Kirschner , David Schorling , Sabine Rudnik-Schöneborn , Tim M Strom , Steffen Leiz , Kali Juliette , Randal Richardson , Ying Yang , Yuehua Zhang , Minghui Wang , Jia Wang , Xiaodong Wang , Konrad Platzer , Sandra Donkervoort , Carsten G Bönnemann , Matias Wagner , Mahmoud Y Issa , Hasnaa M Elbendary , Valentina Stanley , Reza Maroofian , Joseph G Gleeson , Maha S Zaki , Jan Senderek , Udai Bhan Pandey

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.

Neurology
Avec: Stacha F I Reumers , Frederik Braun , Jennifer E Spillane , Johann Böhm , Maartje Pennings , Meyke Schouten , Anneke J van der Kooi , A Reghan Foley , Carsten G Bönnemann , Erik-Jan Kamsteeg , Corrie E Erasmus , Ulrike Schara-Schmidt , Heinz Jungbluth , Nicol C Voermans

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Brain : a journal of neurology
Avec: Alistair T Pagnamenta , Rauan Kaiyrzhanov , Yaqun Zou , Sahar I Da'as , Reza Maroofian , Sandra Donkervoort , Natalia Dominik , Marlen Lauffer , Matteo P Ferla , Andrea Orioli , Adam Giess , Arianna Tucci , Christian Beetz , Maryam Sedghi , Behnaz Ansari , Rita Barresi , Keivan Basiri , Andrea Cortese , Greg Elgar , Miguel A Fernandez-Garcia , Janice Yip , A Reghan Foley , Nicholas Gutowski , Heinz Jungbluth , Saskia Lassche , Tim Lavin , Carlo Marcelis , Peter Marks , Chiara Marini-Bettolo , Livija Medne , Ali-Reza Moslemi , Anna Sarkozy , Mary M Reilly , Francesco Muntoni , Francisca Millan , Colleen C Muraresku , Anna C Need , Andrea H Nemeth , Sarah B Neuhaus , Fiona Norwood , Marie O'Donnell , Mary O'Driscoll , Julia Rankin , Sabrina W Yum , Zarazuela Zolkipli-Cunningham , Isabell Brusius , Gilbert Wunderlich , Auteur inconnu , Mert Karakaya , Brunhilde Wirth , Khalid A Fakhro , Homa Tajsharghi , Carsten G Bönnemann , Jenny C Taylor , Henry Houlden

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.

Journal of neuromuscular diseases
Avec: Rocío N Villar-Quiles , Sandra Donkervoort , Alix de Becdelièvre , Corine Gartioux , Valérie Jobic , A Reghan Foley , Riley M McCarty , Ying Hu , Rita Menassa , Laurence Michel , Gaelle Gousse , Arnaud Lacour , Philippe Petiot , Nathalie Streichenberger , Ariane Choumert , Léa Declerck , J A Urtizberea , Guilhem Sole , Alain Furby , Matthieu Cérino , Martin Krahn , Emmanuelle Campana-Salort , Ana Ferreiro , Bruno Eymard , Carsten G Bönnemann , Diana Bharucha-Goebel , Charlotte J Sumner , Anne M Connolly , Pascale Richard , Valérie Allamand , Corinne Métay , Tanya Stojkovic

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.

Nature medicine
Avec: Payam Mohassel , Sandra Donkervoort , Museer A Lone , Matthew Nalls , Kenneth Gable , Sita D Gupta , A Reghan Foley , Ying Hu , Jonas Alex Morales Saute , Ana Lucila Moreira , Fernando Kok , Alessandro Introna , Giancarlo Logroscino , Christopher Grunseich , Alec R Nickolls , Naemeh Pourshafie , Sarah B Neuhaus , Dimah Saade , Andrea Gangfuß , Heike Kölbel , Zoe Piccus , Claire E Le Pichon , Chiara Fiorillo , Cindy V Ly , Ana Töpf , Lauren Brady , Sabine Specht , Aliza Zidell , Helio Pedro , Eric Mittelmann , Florian P Thomas , Katherine R Chao , Chamindra G Konersman , Megan T Cho , Tracy Brandt , Volker Straub , Anne M Connolly , Ulrike Schara , Andreas Roos , Mark Tarnopolsky , Ahmet Höke , Robert H Brown , Chia-Hsueh Lee , Thorsten Hornemann , Teresa M Dunn , Carsten G Bönnemann

Recurrent de novo

Journal of neurology, neurosurgery, and psychiatry
Avec: Safoora B Syeda , Museer A Lone , Payam Mohassel , Sandra Donkervoort , Pinki Munot , Marcondes C França , Juan Eli Galarza-Brito , Matthias Eckenweiler , Alexander Asamoah , Kenneth Gable , Anirban Majumdar , Anke Schumann , Sita D Gupta , Arpita Lakhotia , Perry B Shieh , A Reghan Foley , Kelly E Jackson , Katherine R Chao , Thomas L Winder , Francesco Catapano , Lucy Feng , Janbernd Kirschner , Francesco Muntoni , Teresa M Dunn , Thorsten Hornemann , Carsten G Bönnemann

Meeting Report: 2022 Muscular Dystrophy Association Summit on 'Safety and Challenges in Gene Transfer Therapy'.

Journal of neuromuscular diseases
Avec: Angela Lek , Evrim Atas , Sharon E Hesterlee , Barry J Byrne , Carsten G Bönnemann

Wearable Sensory Substitution for Proprioception via Deep Pressure.

ArXiv
Avec: Sreela Kodali , Brian B Vuong , Thomas C Bulea , Alexander T Chesler , Carsten G Bönnemann , Allison M Okamura

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 , Carla Grosmann , 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

Rycal S48168 (ARM210) for

EClinicalMedicine
Avec: Joshua J Todd , Tokunbor A Lawal , Irene C Chrismer , Angela Kokkinis , Christopher Grunseich , Minal S Jain , Melissa R Waite , Victoria Biancavilla , Shavonne Pocock , Kia Brooks , Christopher J Mendoza , Gina Norato , Ken Cheung , Willa Riekhof , Pooja Varma , Claudia Colina-Prisco , Magalie Emile-Backer , Katherine G Meilleur , Andrew R Marks , Yael Webb , Eugene E Marcantonio , A Reghan Foley , Carsten G Bönnemann , Payam Mohassel

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes.

The Journal of clinical investigation
Avec: Nunziata Maio , Rotem Orbach , Irina T Zaharieva , Ana Töpf , Sandra Donkervoort , Pinki Munot , Juliane Mueller , Tracey Willis , Sumit Verma , Stojan Peric , Deepa Krishnakumar , Sniya Sudhakar , A Reghan Foley , Sarah Silverstein , Ganka Douglas , Lynn Pais , Stephanie DiTroia , Christopher Grunseich , Ying Hu , Caroline Sewry , Anna Sarkozy , Volker Straub , Francesco Muntoni , Tracey A Rouault , Carsten G Bönnemann

Assessing Motor Function in Congenital Muscular Dystrophy Patients Using Accelerometry.

The Journal of neuroscience nursing : journal of the American Association of Neuroscience Nurses
Avec: Tokunbor A Lawal , Joshua J Todd , Jeffrey S Elliott , Melody M Linton , Megan Andres , Jessica W Witherspoon , John P Collins , Irene C Chrismer , Fatoumata Tounkara , Melissa R Waite , Carmel Nichols , Carsten G Bönnemann , Carole Vuillerot , Roxanna Bendixen , Minal S Jain , Katherine G Meilleur

Muscular dystrophies.

Lancet (London, England)
Avec: Eugenio Mercuri , Carsten G Bönnemann , Francesco Muntoni

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.

American journal of medical genetics. Part A
Avec: Sandra Donkervoort , Payam Mohassel , Lucia Laugwitz , Maha S Zaki , Erik-Jan Kamsteeg , Reza Maroofian , Katherine R Chao , Corien C Verschuuren-Bemelmans , Veronka Horber , Annemarie J M Fock , Riley M McCarty , Minal S Jain , Victoria Biancavilla , Grace McMacken , Matthew Nalls , Nicol C Voermans , Hasnaa M Elbendary , Molly Snyder , Chunyu Cai , Tanya J Lehky , Valentina Stanley , Susan T Iannaccone , A Reghan Foley , Hanns Lochmüller , Joseph Gleeson , Henry Houlden , Tobias B Haack , Rita Horvath , Carsten G Bönnemann

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness.

Frontiers in molecular neuroscience
Avec: Anna Sarkozy , A Reghan Foley , Alberto A Zambon , Carsten G Bönnemann , Francesco Muntoni

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Acta neuropathologica
Avec: S Donkervoort , R Sabouny , P Yun , L Gauquelin , K R Chao , Y Hu , I Al Khatib , A Töpf , P Mohassel , B B Cummings , R Kaur , D Saade , S A Moore , L B Waddell , M A Farrar , J K Goodrich , P Uapinyoying , S H S Chan , A Javed , M E Leach , P Karachunski , J Dalton , L Medne , A Harper , C Thompson , I Thiffault , S Specht , R E Lamont , C Saunders , H Racher , F P Bernier , D Mowat , N Witting , J Vissing , R Hanson , K A Coffman , M Hainlen , J S Parboosingh , A Carnevale , G Yoon , R E Schnur , Auteur inconnu , K M Boycott , J K Mah , V Straub , A Reghan Foley , A M Innes , C G Bönnemann , T E Shutt

Congenital muscular dystrophies in China.

Clinical genetics
Avec: Lin Ge , Cheng Zhang , Zhaoxia Wang , Sophelia H S Chan , Wenhua Zhu , Chunxi Han , Xiaoli Zhang , Hong Zheng , Liwen Wu , Bo Jin , Jingli Shan , Bing Mao , Jianmin Zhong , Xiaoyin Peng , Yaying Cheng , Jun Hu , Yan Sun , Junlan Lu , Ying Hua , Sainan Zhu , Cuijie Wei , Shuo Wang , Hui Jiao , Haipo Yang , Xiaona Fu , Yanbin Fan , Xingzhi Chang , Shuang Wang , Xinhua Bao , Yuehua Zhang , Jingmin Wang , Ye Wu , Yuwu Jiang , Yun Yuan , Anne Rutkowski , Carsten G Bönnemann , Wei Wei , Xiru Wu , Hui Xiong

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

Neurology
Avec: Minal S Jain , Katherine Meilleur , Eunhee Kim , Gina Norato , Melissa Waite , Leslie Nelson , Michelle McGuire , Tina Duong , Katherine Keller , Donovan J Lott , Allan Glanzman , Kristy Rose , Marion Main , Courtney Fiorini , Irene Chrismer , Melody Linton , Monal Punjabi , Jeffrey Elliott , Fatoumata Tounkara , Ruhi Vasavada , Ranjani Logaraj , Jocelyn Winkert , Sandra Donkervoort , Meganne Leach , Jahannaz Dastgir , Linda Hynan , Carmel Nichols , Elizabeth Hartnett , Gilberto M Averion , James C Collins , Eunice S Kim , Angela Kokkinis , Alice Schindler , Kristen Zukosky , Robert Fee , Veronica Hinton , Payam Mohassel , Diana Bharucha-Goebel , Carole Vuillerot , Peter McGraw , Mark Barton , Joseph Fontana , Anne Rutkowski , A Reghan Foley , Carsten G Bönnemann

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.

Brain : a journal of neurology
Avec: Osorio Lopes Abath Neto , Livija Medne , Sandra Donkervoort , Maria Elena Rodríguez-García , Véronique Bolduc , Ying Hu , Eleonora Guadagnin , A Reghan Foley , John F Brandsema , Allan M Glanzman , Gihan I Tennekoon , Mariarita Santi , Justin H Berger , Lynn A Megeney , Hirofumi Komaki , Michio Inoue , Francisco Javier Cotrina-Vinagre , Aurelio Hernández-Lain , Elena Martin-Hernández , Linford Williams , Sabine Borell , David Schorling , Kimberly Lin , Konstantinos Kolokotronis , Uta Lichter-Konecki , Janbernd Kirschner , Ichizo Nishino , Brenda Banwell , Francisco Martínez-Azorín , Patrick G Burgon , Carsten G Bönnemann

Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies.

Annals of clinical and translational neurology
Avec: Eleonora Guadagnin , Payam Mohassel , Kory R Johnson , Lin Yang , Mariarita Santi , Prech Uapinyoying , Jahannaz Dastgir , Ying Hu , Allissa Dillmann , Mark R Cookson , A Reghan Foley , Carsten G Bönnemann

Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.

Brain : a journal of neurology
Avec: Diana X Bharucha-Goebel , Gina Norato , Dimah Saade , Eduardo Paredes , Victoria Biancavilla , Sandra Donkervoort , Rupleen Kaur , Tanya Lehky , Margaret Fink , Diane Armao , Steven J Gray , Melissa Waite , Sarah Debs , Gilberto Averion , Ying Hu , Wadih M Zein , A Reghan Foley , Minal Jain , Carsten G Bönnemann

Ethical challenges for a new generation of early-phase pediatric gene therapy trials.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Alexander A Iyer , Dimah Saade , Diana Bharucha-Goebel , A Reghan Foley , Gilberto 'Mike' Averion , Eduardo Paredes , Steven Gray , Carsten G Bönnemann , Christine Grady , Saskia Hendriks , Annette Rid

Slowly Progressive Limb-Girdle Weakness and HyperCKemia - Limb Girdle Muscular Dystrophy or Anti-3-Hydroxy-3-Methylglutaryl-CoA-Reductase-Myopathy?

Journal of neuromuscular diseases
Avec: Miriam Hiebeler , Raimo Franke , Maria Ingenerf , Sabine Krause , Payam Mohassel , Katherine Pak , Andrew Mammen , Benedikt Schoser , Carsten G Bönnemann , Maggie C Walter

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.

Nature communications
Avec: Marwan Nashabat , Nasrinsadat Nabavizadeh , Hilal Pırıl Saraçoğlu , Burak Sarıbaş , Şahin Avcı , Esra Börklü , Emmanuel Beillard , Elanur Yılmaz , Seyide Ecesu Uygur , Cavit Kerem Kayhan , Luca Bosco , Zeynep Bengi Eren , Katharina Steindl , Manuela Friederike Richter , Guney Bademci , Anita Rauch , Zohreh Fattahi , Maria Lucia Valentino , Anne M Connolly , Angela Bahr , Laura Viola , Anke Katharina Bergmann , Maria Eugenia Rocha , LeShon Peart , Derly Liseth Castro-Rojas , Eva Bültmann , Suliman Khan , Miriam Liliana Giarrana , Raluca Ioana Teleanu , Joanna Michelle Gonzalez , Antonella Pini , Ines Sophie Schädlich , Katharina Vill , Melanie Brugger , Stephan Zuchner , Andreia Pinto , Sandra Donkervoort , Stephanie Ann Bivona , Anca Riza , Auteur inconnu , Ioana Streata , Dieter Gläser , Carolina Baquero-Montoya , Natalia Garcia-Restrepo , Urania Kotzaeridou , Theresa Brunet , Diana Anamaria Epure , Aida Bertoli-Avella , Ariana Kariminejad , Mustafa Tekin , Sandra von Hardenberg , Carsten G Bönnemann , Georg M Stettner , Ginevra Zanni , Hülya Kayserili , Zehra Piraye Oflazer , Nathalie Escande-Beillard

PIEZO2 in somatosensory neurons controls gastrointestinal transit.

Cell
Avec: M Rocio Servin-Vences , Ruby M Lam , Alize Koolen , Yu Wang , Dimah N Saade , Meaghan Loud , Halil Kacmaz , Suzanne Frausto , Yunxiao Zhang , Arthur Beyder , Kara L Marshall , Carsten G Bönnemann , Alexander T Chesler , Ardem Patapoutian

Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.

American journal of medical genetics. Part A
Avec: Carsten G Bönnemann , Kalpathy S Krishnamoorthy , Jennifer J Johnston , Mary M Lee , Darren J Fowler , Leslie G Biesecker , Lewis B Holmes

PIEZO2 and perineal mechanosensation are essential for sexual function.

Science (New York, N.Y.)
Avec: Ruby M Lam , Lars J von Buchholtz , Melanie Falgairolle , Jennifer Osborne , Eleni Frangos , M Rocio Servin-Vences , Maximilian Nagel , Minh Q Nguyen , Monessha Jayabalan , Dimah Saade , Ardem Patapoutian , Carsten G Bönnemann , Nicholas J P Ryba , Alexander T Chesler

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Lauren Jeffries , Emily K Mis , Kirsty McWalter , Sandra Donkervoort , Nina N Brodsky , Jean-Marie Carpier , Weizhen Ji , Cristian Ionita , Bhaskar Roy , Jon S Morrow , Armine Darbinyan , Krishna Iyer , Ritu B Aul , Siddharth Banka , Katherine R Chao , Laura Cobbold , Stacey Cohen , Helena M Custodio , Margaret Drummond-Borg , Frances Elmslie , Erika Finanger , Bryan E Hainline , Ingo Helbig , Stacy Hewson , Ying Hu , Adam Jackson , Dragana Josifova , Monica Konstantino , Meganne E Leach , Bryan Mak , David McCormick , Elisabeth McGee , Stanley Nelson , Joanne Nguyen , Kimberly Nugent , Lucy Ortega , Howard P Goodkin , Elizabeth Roeder , Sani Roy , Katie Sapp , Dimah Saade , Sanjay M Sisodiya , Karen Stals , Shelley Towner , William Wilson , Auteur inconnu , Auteur inconnu , Auteur inconnu , Mustafa K Khokha , Carsten G Bönnemann , Carrie L Lucas , Saquib A Lakhani

Recurrent

Journal of neurology, neurosurgery, and psychiatry
Avec: Maike F Dohrn , Danique Beijer , Museer A Lone , Elif Bayraktar , Piraye Oflazer , Rotem Orbach , Sandra Donkervoort , A Reghan Foley , Aubrey Rose , Michael Lyons , Raymond J Louie , Kenneth Gable , Teresa Dunn , Sitong Chen , Matt C Danzi , Matthis Synofzik , Carsten G Bönnemann , A Nazlı Başak , Thorsten Hornemann , Stephan Zuchner

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial.

EBioMedicine
Avec: Michael W Lawlor , Benedikt Schoser , Marta Margeta , Caroline A Sewry , Karra A Jones , Perry B Shieh , Nancy L Kuntz , Barbara K Smith , James J Dowling , Wolfgang Müller-Felber , Carsten G Bönnemann , Andreea M Seferian , Astrid Blaschek , Sarah Neuhaus , A Reghan Foley , Dimah N Saade , Etsuko Tsuchiya , Ummulwara R Qasim , Margaret Beatka , Mariah J Prom , Emily Ott , Susan Danielson , Paul Krakau , Suresh N Kumar , Hui Meng , Mark Vanden Avond , Clive Wells , Heather Gordish-Dressman , Alan H Beggs , Sarah Christensen , Edward Conner , Emma S James , Jun Lee , Chanchal Sadhu , Weston Miller , Bryan Sepulveda , Fatbardha Varfaj , Suyash Prasad , Salvador Rico

Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.

medRxiv : the preprint server for health sciences
Avec: Nunziata Maio , Rotem Orbach , Irina Zaharieva , Ana Töpf , Sandra Donkervoort , Pinki Munot , Juliane Mueller , Tracey Willis , Sumit Verma , Stojan Peric , Deepa Krishnakumar , Sniya Sudhakar , Aileen Reghan Foley , Sarah Silverstein , Ganka Douglas , Lynn Pais , Stephanie DiTroia , Christopher Grunseich , Ying Hu , Caroline Sewry , Anna Sarkozy , Volker Straub , Francesco Muntoni , Tracey Rouault , Carsten Gerhart Bönnemann

Pathogenic

Science translational medicine
Avec: Sandra Donkervoort , Martijn van de Locht , Dario Ronchi , Janine Reunert , Catriona A McLean , Maha Zaki , Rotem Orbach , Josine M de Winter , Stefan Conijn , Daan Hoomoedt , Osorio Lopes Abath Neto , Francesca Magri , Angela N Viaene , A Reghan Foley , Svetlana Gorokhova , Véronique Bolduc , Ying Hu , Nicole Acquaye , Laura Napoli , Julien H Park , Kalyan Immadisetty , Lee B Miles , Mona Essawi , Salar McModie , Leonardo F Ferreira , Simona Zanotti , Sarah B Neuhaus , Livija Medne , Nagham ElBagoury , Kory R Johnson , Yong Zhang , Nigel G Laing , Mark R Davis , Robert J Bryson-Richardson , Darren T Hwee , James J Hartman , Fady I Malik , Peter M Kekenes-Huskey , Giacomo Pietro Comi , Wessam Sharaf-Eldin , Thorsten Marquardt , Gianina Ravenscroft , Carsten G Bönnemann , Coen A C Ottenheijm

Optimized allele-specific silencing of the dominant-negative

Molecular therapy. Nucleic acids
Avec: Astrid Brull , Apurva Sarathy , Véronique Bolduc , Grace S Chen , Riley M McCarty , Carsten G Bönnemann

An International Retrospective Early Natural History Study of LAMA2-Related Dystrophies.

Journal of neuromuscular diseases
Avec: Lauren Hinkley , Rotem Orbach , Justin Park , Rachel Alvarez , Gustavo Dziewczapolski , Carsten G Bönnemann , A Reghan Foley

Réseau de co-auteurs

Carsten G Bönnemann 86 collaborations
Sandra Donkervoort 48 collaborations
A Reghan Foley 40 collaborations
Ying Hu 20 collaborations
Payam Mohassel 18 collaborations
Dimah Saade 13 collaborations
Francesco Muntoni 12 collaborations
Katherine R Chao 12 collaborations
Véronique Bolduc 11 collaborations
None None 11 collaborations
Sarah B Neuhaus 9 collaborations
Volker Straub 9 collaborations
Alan H Beggs 8 collaborations
Minal S Jain 8 collaborations
Melissa Waite 8 collaborations
Pomi Yun 7 collaborations
Gina Norato 7 collaborations
Anna Sarkozy 7 collaborations
Rotem Orbach 7 collaborations
Livija Medne 7 collaborations
Ana Töpf 7 collaborations
Prech Uapinyoying 6 collaborations
Katherine G Meilleur 6 collaborations
Diana Bharucha-Goebel 6 collaborations
Alexander T Chesler 6 collaborations
Joshua J Todd 5 collaborations
James J Dowling 5 collaborations
Minal Jain 5 collaborations
Sarah Silverstein 5 collaborations
Jahannaz Dastgir 5 collaborations
Casie A Genetti 5 collaborations
Erik-Jan Kamsteeg 5 collaborations
Daniel G MacArthur 5 collaborations
Heinz Jungbluth 5 collaborations
Anne O'Donnell-Luria 5 collaborations
Tokunbor A Lawal 4 collaborations
Irene C Chrismer 4 collaborations
Susana Quijano-Roy 4 collaborations
Astrid Brull 4 collaborations
Apurva Sarathy 4 collaborations
Museer A Lone 4 collaborations
Thorsten Hornemann 4 collaborations
Meganne E Leach 4 collaborations
Carla Grosmann 4 collaborations
Bjarne Udd 4 collaborations
Sarah Neuhaus 4 collaborations
Kory R Johnson 4 collaborations
Vijay S Ganesh 4 collaborations
Kenneth Gable 4 collaborations
Lynn Pais 4 collaborations
Stephanie DiTroia 4 collaborations
Sander Pajusalu 4 collaborations
Riley M McCarty 4 collaborations
Janbernd Kirschner 4 collaborations
Pinki Munot 4 collaborations
Reza Maroofian 4 collaborations
Henry Houlden 4 collaborations
Christopher Grunseich 4 collaborations
Pankaj B Agrawal 3 collaborations
Maha S Zaki 3 collaborations
Grace Yoon 3 collaborations
Jessica W Witherspoon 3 collaborations
Ruhi Vasavada 3 collaborations
Bruno Eymard 3 collaborations
Tanya Stojkovic 3 collaborations
Andrew L Mammen 3 collaborations
Fatoumata Tounkara 3 collaborations
Alec R Nickolls 3 collaborations
Andrew E Arai 3 collaborations
Tina Duong 3 collaborations
Emma S James 3 collaborations
Suyash Prasad 3 collaborations
Salvador Rico 3 collaborations
Alba Sanchis-Juan 3 collaborations
Eugenio Mercuri 3 collaborations
Chiara Marini-Bettolo 3 collaborations
Isabelle Desguerre 3 collaborations
Ulrike Schara 3 collaborations
Safoora Syeda 3 collaborations
Rupleen Kaur 3 collaborations
Grace S Chen 3 collaborations
Susan T Iannaccone 3 collaborations
Diana X Bharucha-Goebel 3 collaborations
Yaqun Zou 3 collaborations
Margaret Fink 3 collaborations
Svetlana Gorokhova 3 collaborations
Michael W Lawlor 3 collaborations
Mark R Davis 3 collaborations
Charlotte J Sumner 3 collaborations
Ruby M Lam 3 collaborations
Edoardo Malfatti 3 collaborations
Norma B Romero 3 collaborations
Beryl B Cummings 3 collaborations
Perry B Shieh 3 collaborations
Sita D Gupta 3 collaborations
Teresa M Dunn 3 collaborations
Giorgio Tasca 3 collaborations
Christina Austin-Tse 3 collaborations
Emily O'Heir 3 collaborations
Monica H Wojcik 3 collaborations
Zornitza Stark 3 collaborations
Katrin Õunap 3 collaborations
Gianina Ravenscroft 3 collaborations
Nigel G Laing 3 collaborations
Ichizo Nishino 3 collaborations
Sumit Verma 3 collaborations
Dimah N Saade 3 collaborations
Carole Vuillerot 3 collaborations
Nicol C Voermans 3 collaborations
Anne M Connolly 3 collaborations
Victoria Biancavilla 3 collaborations
Ingo Helbig 2 collaborations
Monkol Lek 2 collaborations
Anna Kuo 2 collaborations
Monique O Shelton 2 collaborations
Muslima S Razaqyar 2 collaborations
Bart Drinkard 2 collaborations
Darren Michael 2 collaborations
Monal Punjabi 2 collaborations
Jeffrey S Elliott 2 collaborations
Melody Linton 2 collaborations
Magalie Emile-Backer 2 collaborations
Michelle M Lee 2 collaborations
Kristen Zukosky 2 collaborations
Benjamin T Cocanougher 2 collaborations
A Micheil Innes 2 collaborations
Tahseen Mozaffar 2 collaborations
Lindsay N Alfano 2 collaborations
Charlotte Lilien 2 collaborations
Linda P Lowes 2 collaborations
Laurent Servais 2 collaborations
Mojtaba Noursalehi 2 collaborations
Deborah A Bilder 2 collaborations
Wendy K Chung 2 collaborations
Boris Keren 2 collaborations
Heather C Mefford 2 collaborations
Marwan Shinawi 2 collaborations
Matias Wagner 2 collaborations
Konrad Platzer 2 collaborations
Annika Saak 2 collaborations
Sandra Jackson 2 collaborations
Hui Xiong 2 collaborations
Andrés Nascimento 2 collaborations
Soledad Monges 2 collaborations
Hirofumi Komaki 2 collaborations
Michèle Mayer 2 collaborations
Claudia Castiglioni 2 collaborations
Emmanuelle Lagrue 2 collaborations
Monique M Ryan 2 collaborations
Rachel Alvarez 2 collaborations
David Gómez-Andrés 2 collaborations
Janelle Geist Hauserman 2 collaborations
Katherine Sizov 2 collaborations
Eric Esposito 2 collaborations
Aliza Zidell 2 collaborations
Chunyu Cai 2 collaborations
Robert W Taylor 2 collaborations
Ken Cheung 2 collaborations
Angela Lek 2 collaborations
Evrim Atas 2 collaborations
Sharon E Hesterlee 2 collaborations
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Stacy Hewson 2 collaborations
Leslie Nelson 2 collaborations
Martijn van de Locht 2 collaborations
Josine M de Winter 2 collaborations
Stefan Conijn 2 collaborations
Steven A Moore 2 collaborations
Darren T Hwee 2 collaborations
Fady I Malik 2 collaborations
Kalyan Immadisetty 2 collaborations
Nicol Voermans 2 collaborations
Diana Castro 2 collaborations
Denise M Malicki 2 collaborations
John Vissing 2 collaborations
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Marco Savarese 2 collaborations
Anna Vihola 2 collaborations
Anirban Majumdar 2 collaborations
Sandra T Cooper 2 collaborations
Jaquette Liljencrantz 2 collaborations
Marcin Szczot 2 collaborations
Eleni Frangos 2 collaborations
Jonathan Cole 2 collaborations
Tracy Ogata 2 collaborations
Håkan Olausson 2 collaborations
M Catherine Bushnell 2 collaborations
Thomas L Winder 2 collaborations
Karra A Jones 2 collaborations
Russell J Butterfield 2 collaborations
Chamindra G Konersman 2 collaborations
Minh Q Nguyen 2 collaborations
Maja von der Hagen 2 collaborations
Corinne Métay 2 collaborations
Enrico Bertini 2 collaborations
Luciano Merlini 2 collaborations
David Orlikowski 2 collaborations
Michel Fardeau 2 collaborations
Pascale Richard 2 collaborations
Ana Ferreiro 2 collaborations
Sara Aguti 2 collaborations
Haiyan Zhou 2 collaborations
Abhinandan Batra 2 collaborations
Donovan J Lott 2 collaborations
Glenn A Walter 2 collaborations
Partha S Ghosh 2 collaborations
Molly Snyder 2 collaborations
Wolfgang Müller-Felber 2 collaborations
Barbara K Smith 2 collaborations
Nancy L Kuntz 2 collaborations
Astrid Blaschek 2 collaborations
Jun Lee 2 collaborations
Sarah Christensen 2 collaborations
Andreea M Seferian 2 collaborations
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Weston Miller 2 collaborations
Bryan Sepulveda 2 collaborations
Mena Scavina 2 collaborations
Chiara Fiorillo 2 collaborations
Safoora B Syeda 2 collaborations
Carlos Ortez 2 collaborations
Cristina Jou 2 collaborations
Daniel Natera-de Benito 2 collaborations
Julie S Cohen 2 collaborations
Gabrielle Lemire 2 collaborations
Kathryn Russell 2 collaborations
Samantha Baxter 2 collaborations
Moriel Singer-Berk 2 collaborations
Emily Groopman 2 collaborations
Isaac Wong 2 collaborations
Eleina England 2 collaborations
Julia Goodrich 2 collaborations
Emily Evangelista 2 collaborations
Hana Snow 2 collaborations
Ikeoluwa Osei-Owusu 2 collaborations
Jack Fu 2 collaborations
Mugdha Singh 2 collaborations
Yulia Mostovoy 2 collaborations
Steve Huang 2 collaborations
Kiran Garimella 2 collaborations
Samantha L Kirkham 2 collaborations
Jennifer E Neil 2 collaborations
Diane D Shao 2 collaborations
Christopher A Walsh 2 collaborations
Carolyn Le 2 collaborations
Elliott H Sherr 2 collaborations
Joseph Gleeson 2 collaborations
Shirlee Shril 2 collaborations
Ronen Schneider 2 collaborations
Friedhelm Hildebrandt 2 collaborations
Vijay G Sankaran 2 collaborations
Jill A Madden 2 collaborations
Kinga M Bujakowska 2 collaborations
Emily Place 2 collaborations
Eric A Pierce 2 collaborations
Lyndon Gallacher 2 collaborations
Susan M White 2 collaborations
Mark D Fleming 2 collaborations
Martin R Pollak 2 collaborations
Kirsten A Donald 2 collaborations
Zandre Bruwer 2 collaborations
Heidi L Rehm 2 collaborations
Michael E Talkowski 2 collaborations
Harrison Brand 2 collaborations
Nicole Acquaye 2 collaborations
Kirsty McWalter 2 collaborations
Joseph G Gleeson 2 collaborations
Tanya Lehky 2 collaborations
Diane Armao 2 collaborations
Wadih M Zein 2 collaborations
Steven J Gray 2 collaborations
Erika Finanger 2 collaborations
Randal Richardson 2 collaborations
Baiba Lace 2 collaborations
Sophelia H S Chan 2 collaborations
Corine Gartioux 2 collaborations
Valérie Allamand 2 collaborations
Alice Schindler 2 collaborations
Maggie C Walter 2 collaborations
Robert Y Carlier 2 collaborations
Xavière Lornage 2 collaborations
Johann Böhm 2 collaborations
Jocelyn Laporte 2 collaborations
Andrea H Nemeth 2 collaborations
David Schorling 2 collaborations
Yuehua Zhang 2 collaborations
Hasnaa M Elbendary 2 collaborations
Valentina Stanley 2 collaborations
Meyke Schouten 2 collaborations
Corrie E Erasmus 2 collaborations
Rita Barresi 2 collaborations
Matthew Nalls 2 collaborations
Irina T Zaharieva 2 collaborations
Angela Kokkinis 2 collaborations
Melissa R Waite 2 collaborations
Nunziata Maio 2 collaborations
Juliane Mueller 2 collaborations
Tracey Willis 2 collaborations
Stojan Peric 2 collaborations
Deepa Krishnakumar 2 collaborations
Sniya Sudhakar 2 collaborations
Ganka Douglas 2 collaborations
Caroline Sewry 2 collaborations
Carmel Nichols 2 collaborations
Anne Rutkowski 2 collaborations
Osorio Lopes Abath Neto 2 collaborations
Eleonora Guadagnin 2 collaborations
Mariarita Santi 2 collaborations
Eduardo Paredes 2 collaborations
Benedikt Schoser 2 collaborations
Stephan Zuchner 2 collaborations
M Rocio Servin-Vences 2 collaborations
Ardem Patapoutian 2 collaborations
Deanne M Taylor 1 collaboration
Bruce J Aronow 1 collaboration
Kai Tan 1 collaboration
Kathrin Bernt 1 collaboration
Nathan Salomonis 1 collaboration
Casey S Greene 1 collaboration
Alina Frolova 1 collaboration
Sarah E Henrickson 1 collaboration
Andrew Wells 1 collaboration
Liming Pei 1 collaboration
Jyoti K Jaiswal 1 collaboration
Jeffrey Whitsett 1 collaboration
Kathryn E Hamilton 1 collaboration
Sonya A MacParland 1 collaboration
Judith Kelsen 1 collaboration
Robert O Heuckeroth 1 collaboration
S Steven Potter 1 collaboration
Laura A Vella 1 collaboration
Natalie A Terry 1 collaboration
Louis R Ghanem 1 collaboration
Benjamin C Kennedy 1 collaboration
Kathleen E Sullivan 1 collaboration
Leslie Castelo-Soccio 1 collaboration
Arnold Kreigstein 1 collaboration
Florian Herse 1 collaboration
Martijn C Nawijn 1 collaboration
Gerard H Koppelman 1 collaboration
Melissa Haendel 1 collaboration
Nomi L Harris 1 collaboration
Jo Lynne Rokita 1 collaboration
Yuanchao Zhang 1 collaboration
Aviv Regev 1 collaboration
Orit Rozenblatt-Rosen 1 collaboration
Jennifer E Rood 1 collaboration
Timothy L Tickle 1 collaboration
Roser Vento-Tormo 1 collaboration
Saif Alimohamed 1 collaboration
Jessica C Mar 1 collaboration
Kathleen M Loomes 1 collaboration
David M Barrett 1 collaboration
Yi-Wen Chen 1 collaboration
Amanda B Muir 1 collaboration
Lana X Garmire 1 collaboration
Scott B Snapper 1 collaboration
Javad Nazarian 1 collaboration
Steven H Seeholzer 1 collaboration
Hossein Fazelinia 1 collaboration
Larry N Singh 1 collaboration
Robert B Faryabi 1 collaboration
Pichai Raman 1 collaboration
Noor Dawany 1 collaboration
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Sharon J Diskin 1 collaboration
Stewart A Anderson 1 collaboration
Eric F Rappaport 1 collaboration
William Peranteau 1 collaboration
Kathryn A Wikenheiser-Brokamp 1 collaboration
Sarah Teichmann 1 collaboration
Douglas Wallace 1 collaboration
Tao Peng 1 collaboration
Yang-Yang Ding 1 collaboration
Man S Kim 1 collaboration
Yi Xing 1 collaboration
Sek Won Kong 1 collaboration
Kenneth D Mandl 1 collaboration
Peter S White 1 collaboration
María Cristina Estañ 1 collaboration
Elisa Fernández-Núñez 1 collaboration
María Isabel Esteban 1 collaboration
Cynthia Hawkins 1 collaboration
José A Caparros-Martin 1 collaboration
Katherine Ru-Yui Chao 1 collaboration
Julián Nevado 1 collaboration
Ana Lamuedra 1 collaboration
Raquel Largo 1 collaboration
Gabriel Herrero-Beaumont 1 collaboration
Javier Regadera 1 collaboration
Concepción Hernandez-Chico 1 collaboration
Eduardo F Tizzano 1 collaboration
Victor Martinez-Glez 1 collaboration
Jaime J Carvajal 1 collaboration
Ruiting Zong 1 collaboration
David L Nelson 1 collaboration
Ghada A Otaify 1 collaboration
Samia Temtamy 1 collaboration
Mona Aglan 1 collaboration
Mahmoud Issa 1 collaboration
Pablo Lapunzina 1 collaboration
Victor L Ruiz-Perez 1 collaboration
Jeffery Elliott 1 collaboration
Alicia Richarte 1 collaboration
Océane Landon-Cardinal 1 collaboration
Katherine S Pak 1 collaboration
Colleen Wahl 1 collaboration
Robert T Shebert 1 collaboration
Amy Harper 1 collaboration
Pierre Fequiere 1 collaboration
Matthew Meriggioli 1 collaboration
Camilo Toro 1 collaboration
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Yves Allenbach 1 collaboration
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Anthony Béhin 1 collaboration
Pascal Lafôret 1 collaboration
Carolyn Allen 1 collaboration
Mary M Cosgrove 1 collaboration
Paul G Wakim 1 collaboration
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Lauren Flynn 1 collaboration
Jason D Wittenbach 1 collaboration
Sabine de Chastonay 1 collaboration
Sameer Chhibber 1 collaboration
Linda MacLaren 1 collaboration
Gale Harding 1 collaboration
Sally Mannix 1 collaboration
Cristina Abel 1 collaboration
Dawn Phillips 1 collaboration
Birgit Warken-Madelung 1 collaboration
Susie Nieto Bergman 1 collaboration
Menachem Sadeh 1 collaboration
Dolev Rahat 1 collaboration
Vardiella Meiner 1 collaboration
Yakov Fellig 1 collaboration
Michael Arad 1 collaboration
Ora Schueler-Furman 1 collaboration
Yan Li 1 collaboration
Alexander Lossos 1 collaboration
Chiara Klöckner 1 collaboration
Heinrich Sticht 1 collaboration
Pia Zacher 1 collaboration
Bernt Popp 1 collaboration
Holly E Babcock 1 collaboration
Dewi P Bakker 1 collaboration
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Patrick Devine 1 collaboration
Jamie L Fraser 1 collaboration
Jennifer Friedman 1 collaboration
Alyssa Gates 1 collaboration
Jamal Ghoumid 1 collaboration
Emma Hobson 1 collaboration
Gabriella Horvath 1 collaboration
Jennifer Keller-Ramey 1 collaboration
Manju A Kurian 1 collaboration
Virgina Lee 1 collaboration
Kathleen A Leppig 1 collaboration
Johan Lundgren 1 collaboration
Marie T McDonald 1 collaboration
Heather M McLaughlin 1 collaboration
Amy McTague 1 collaboration
Cyril Mignot 1 collaboration
Mohamad A Mikati 1 collaboration
Caroline Nava 1 collaboration
F Lucy Raymond 1 collaboration
Julian R Sampson 1 collaboration
Vandana Shashi 1 collaboration
Joseph T C Shieh 1 collaboration
Anne Slavotinek 1 collaboration
Tommy Stödberg 1 collaboration
Nicholas Stong 1 collaboration
Jennifer A Sullivan 1 collaboration
Ashley C Taylor 1 collaboration
Tomi L Toler 1 collaboration
Marie-José van den Boogaard 1 collaboration
Saskia N van der Crabben 1 collaboration
Koen L I van Gassen 1 collaboration
Richard H van Jaarsveld 1 collaboration
Jessica Van Ziffle 1 collaboration
Alexandrea F Wadley 1 collaboration
Kristen Wigby 1 collaboration
Saskia B Wortmann 1 collaboration
Yuri A Zarate 1 collaboration
Rikke S Møller 1 collaboration
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Jochen Schaefer 1 collaboration
Rabah Ben Yaou 1 collaboration
Ivana Dabaj 1 collaboration
Lorenzo Maggi 1 collaboration
Marta Bertoli 1 collaboration
Edmar Zanoteli 1 collaboration
Adele D'Amico 1 collaboration
Nicolas Deconinck 1 collaboration
Ricardo Erazo-Torricelli 1 collaboration
Juliana Gurgel-Giannetti 1 collaboration
Akihiko Ishiyama 1 collaboration
Karin S Kleinsteuber 1 collaboration
Vincent Laugel 1 collaboration
Sandra Mercier 1 collaboration
Sonia Messina 1 collaboration
Luisa Politano 1 collaboration
Pascal Sabouraud 1 collaboration
Gabriele Siciliano 1 collaboration
Liliana Vercelli 1 collaboration
Thomas Voit 1 collaboration
Tyler M Pierson 1 collaboration
Gisèle Bonne 1 collaboration
Luisa Averdunk 1 collaboration
Denise Horn 1 collaboration
Stephan Waldmüller 1 collaboration
Anne van Riesen 1 collaboration
Darja Gauck 1 collaboration
Tobias Haack 1 collaboration
Anna S Japp 1 collaboration
Unaa Lee 1 collaboration
Ertan Mayatepek 1 collaboration
Felix Distelmaier 1 collaboration
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Gabrielle Vaughn 1 collaboration
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Yuesheng Li 1 collaboration
Yan Luo 1 collaboration
Poching Liu 1 collaboration
Patrick Burr 1 collaboration
Kory Johnson 1 collaboration
Mari J Aaltonen 1 collaboration
Helio F Pedro 1 collaboration
Jonas A Morales Saute 1 collaboration
Shalett Mathew 1 collaboration
Eric A Shoubridge 1 collaboration
Kyle Thompson 1 collaboration
Lucas Bianchi 1 collaboration
Francesca Rastelli 1 collaboration
Florence Piron-Prunier 1 collaboration
Sophie Ayciriex 1 collaboration
Claude Besmond 1 collaboration
Laurence Hubert 1 collaboration
Magalie Barth 1 collaboration
Inês A Barbosa 1 collaboration
Charu Deshpande 1 collaboration
Manali Chitre 1 collaboration
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Pascale Marcorelles 1 collaboration
Andrew F Dean 1 collaboration
Robert McFarland 1 collaboration
Frédéric M Vaz 1 collaboration
Agnès Delahodde 1 collaboration
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Gilberto V Averion 1 collaboration
Leslie H Hayes 1 collaboration
Rebecca Parks 1 collaboration
Oscar H Mayer 1 collaboration
Jameice DeCoster 1 collaboration
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Cynthia Arévalo 1 collaboration
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Diana Petraki 1 collaboration
Brian Lin 1 collaboration
Jordan K Abbott 1 collaboration
Kimberly Amburgey 1 collaboration
Meryl Acker 1 collaboration
Samia Saeed 1 collaboration
Reshma Amin 1 collaboration
Michael Brudno 1 collaboration
Andrei Constantinescu 1 collaboration
Mamadou Diallo 1 collaboration
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Courtney Hum 1 collaboration
Oscar H Meyer 1 collaboration
Nicole Sultanum 1 collaboration
Faiza Syed 1 collaboration
Tuyen Tran 1 collaboration
Ching H Wang 1 collaboration
Amy L Schneider 1 collaboration
Candace T Myers 1 collaboration
Alison M Muir 1 collaboration
Sophie Calvert 1 collaboration
Alice Basinger 1 collaboration
M Scott Perry 1 collaboration
Lance Rodan 1 collaboration
Katherine L Helbig 1 collaboration
Chelsea Chambers 1 collaboration
Kathleen M Gorman 1 collaboration
Mary D King 1 collaboration
Ariane Soldatos 1 collaboration
Nino Spataro 1 collaboration
Elisabeth Gabau 1 collaboration
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Gerarda Cappuccio 1 collaboration
Nicola Brunetti-Pierri 1 collaboration
Elsa Rossignol 1 collaboration
Fadi F Hamdan 1 collaboration
Jacques L Michaud 1 collaboration
Christopher Balak 1 collaboration
Ingrid E Scheffer 1 collaboration
Leon Begthel 1 collaboration
Benno Kusters 1 collaboration
Colin Quinn 1 collaboration
Gwimoon Seo 1 collaboration
Thomas Irving 1 collaboration
Weikang Ma 1 collaboration
Henk L Granzier 1 collaboration
Peter Kekenes-Huskey 1 collaboration
José R Pinto 1 collaboration
Coen Ac Ottenheijm 1 collaboration
Samantha J Bryen 1 collaboration
Lisa J Ewans 1 collaboration
Jason Pinner 1 collaboration
Suzanna C MacLennan 1 collaboration
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Beryl Cummings 1 collaboration
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Fathimath Faiz 1 collaboration
Adam M Bournazos 1 collaboration
Helen Doyle 1 collaboration
Nanna Witting 1 collaboration
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Ana Beleza-Meireles 1 collaboration
Julia Baptista 1 collaboration
Sian Ellard 1 collaboration
Mridul Johari 1 collaboration
Laura K Case 1 collaboration
Nicholas Madian 1 collaboration
Aaron Necaise 1 collaboration
Justin Tubbs 1 collaboration
Micaela McCall 1 collaboration
Megan L Bradson 1 collaboration
Mark H Pitcher 1 collaboration
Nima Ghitani 1 collaboration
Teerin Liewluck 1 collaboration
Daniel Ezzo 1 collaboration
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Gihan Tennekoon 1 collaboration
Richard S Finkel 1 collaboration
Jiani Chen 1 collaboration
Nathan P Staff 1 collaboration
Manuel Koch 1 collaboration
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Mary O Cox 1 collaboration
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Monica Boyer 1 collaboration
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Ching Wang 1 collaboration
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Joanne S Janas 1 collaboration
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Qi Wang 1 collaboration
Jeanette Beers 1 collaboration
Jizhong Zou 1 collaboration
Hans J Solinski 1 collaboration
Aisha A AlJanahi 1 collaboration
Michael E Ward 1 collaboration
Rocio N Villar-Quiles 1 collaboration
Victoria Gonzalez 1 collaboration
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Mustafa A Salih 1 collaboration
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