Austin Larson

Affiliations

Department of Pediatrics, Section of Genetics and Metabolics, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado.

Publications (5)

Tracheal and lower airway changes in a patient with mucolipidosis type II.

Pediatric pulmonology

Avec: Thomas S Poore , Jeremy Prager , Jason P Weinman , Austin Larson , Paul Houin

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Human mutation

Avec: Nurit Assia Batzir , Pranjali Kishor Bhagwat , Austin Larson , Zeynep Coban Akdemir , Maciej Bagłaj , Leon Bofferding , Katherine B Bosanko , Skander Bouassida , Bert Callewaert , Ashley Cannon , Yazmin Enchautegui Colon , Adolfo D Garnica , Margaret H Harr , Sandra Heck , Anna C E Hurst , Shalini N Jhangiani , Bertrand Isidor , Rebecca O Littlejohn , Pengfei Liu , Pilar Magoulas , Helen Mar Fan , Ronit Marom , Scott McLean , Marjan M Nezarati , Kimberly M Nugent , Michael B Petersen , Maria L Rocha , Elizabeth Roeder , Robert Smigiel , Ian Tully , James Weisfeld-Adams , Katerina O Wells , Auteur inconnu , Jennifer E Posey , James R Lupski , Arthur L Beaudet , Michael F Wangler

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.

Journal of inherited metabolic disease

Avec: Piming Zhao , Isaac D Liu , Jeffrey B Hodgin , Peter I Benke , Jeremy Selva , Federico Torta , Markus R Wenk , James A Endrizzi , Olivia West , Weixing Ou , Emily Tang , Denise Li-Meng Goh , Stacey Kiat-Hong Tay , Hui-Kim Yap , Alwin Loh , Nicole Weaver , Bonnie Sullivan , Austin Larson , Megan A Cooper , Khalid Alhasan , Abdullah A Alangari , Suha Salim , Evren Gumus , Karin Chen , Martin Zenker , Friedhelm Hildebrandt , Julie D Saba

Evaluation of the Diagnostic Accuracy of an Online Artificial Intelligence Application for Skin Disease Diagnosis.

Acta dermato-venereologica

Avec: Oscar Zaar , Alexander Larson , Sam Polesie , Karim Saleh , Mikael Tarstedt , Antonio Olives , Andrea Suárez , Martin Gillstedt , Noora Neittaanmäki

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

American journal of human genetics

Avec: Elisabetta Flex , Simone Martinelli , Anke Van Dijck , Andrea Ciolfi , Serena Cecchetti , Elisa Coluzzi , Luca Pannone , Cristina Andreoli , Francesca Clementina Radio , Simone Pizzi , Giovanna Carpentieri , Alessandro Bruselles , Giuseppina Catanzaro , Lucia Pedace , Evelina Miele , Elena Carcarino , Xiaoyan Ge , Chieko Chijiwa , M E Suzanne Lewis , Marije Meuwissen , Sandra Kenis , Nathalie Van der Aa , Austin Larson , Kathleen Brown , Melissa P Wasserstein , Brian G Skotko , Amber Begtrup , Richard Person , Maria Karayiorgou , J Louw Roos , Koen L Van Gassen , Marije Koopmans , Emilia K Bijlsma , Gijs W E Santen , Daniela Q C M Barge-Schaapveld , Claudia A L Ruivenkamp , Mariette J V Hoffer , Seema R Lalani , Haley Streff , William J Craigen , Brett H Graham , Annette P M van den Elzen , Daan J Kamphuis , Katrin Õunap , Karit Reinson , Sander Pajusalu , Monica H Wojcik , Clara Viberti , Cornelia Di Gaetano , Enrico Bertini , Simona Petrucci , Alessandro De Luca , Rossella Rota , Elisabetta Ferretti , Giuseppe Matullo , Bruno Dallapiccola , Antonella Sgura , Magdalena Walkiewicz , R Frank Kooy , Marco Tartaglia

Réseau de co-auteurs

Thomas S Poore 1 collaboration

Jeremy Prager 1 collaboration

Jason P Weinman 1 collaboration

Paul Houin 1 collaboration

Nurit Assia Batzir 1 collaboration

Pranjali Kishor Bhagwat 1 collaboration

Zeynep Coban Akdemir 1 collaboration

Maciej Bagłaj 1 collaboration

Leon Bofferding 1 collaboration

Katherine B Bosanko 1 collaboration

Skander Bouassida 1 collaboration

Bert Callewaert 1 collaboration

Ashley Cannon 1 collaboration

Yazmin Enchautegui Colon 1 collaboration

Adolfo D Garnica 1 collaboration

Margaret H Harr 1 collaboration

Sandra Heck 1 collaboration

Anna C E Hurst 1 collaboration

Shalini N Jhangiani 1 collaboration

Bertrand Isidor 1 collaboration

Rebecca O Littlejohn 1 collaboration

Pengfei Liu 1 collaboration

Pilar Magoulas 1 collaboration

Helen Mar Fan 1 collaboration

Ronit Marom 1 collaboration

Scott McLean 1 collaboration

Marjan M Nezarati 1 collaboration

Kimberly M Nugent 1 collaboration

Michael B Petersen 1 collaboration

Maria L Rocha 1 collaboration

Elizabeth Roeder 1 collaboration

Robert Smigiel 1 collaboration

Ian Tully 1 collaboration

James Weisfeld-Adams 1 collaboration

Katerina O Wells 1 collaboration

None None 1 collaboration

Jennifer E Posey 1 collaboration

James R Lupski 1 collaboration

Arthur L Beaudet 1 collaboration

Michael F Wangler 1 collaboration

Piming Zhao 1 collaboration

Isaac D Liu 1 collaboration

Jeffrey B Hodgin 1 collaboration

Peter I Benke 1 collaboration

Jeremy Selva 1 collaboration

Federico Torta 1 collaboration

Markus R Wenk 1 collaboration

James A Endrizzi 1 collaboration

Olivia West 1 collaboration

Weixing Ou 1 collaboration

Emily Tang 1 collaboration

Denise Li-Meng Goh 1 collaboration

Stacey Kiat-Hong Tay 1 collaboration

Hui-Kim Yap 1 collaboration

Alwin Loh 1 collaboration

Nicole Weaver 1 collaboration

Bonnie Sullivan 1 collaboration

Megan A Cooper 1 collaboration

Khalid Alhasan 1 collaboration

Abdullah A Alangari 1 collaboration

Suha Salim 1 collaboration

Evren Gumus 1 collaboration

Karin Chen 1 collaboration

Martin Zenker 1 collaboration

Friedhelm Hildebrandt 1 collaboration

Julie D Saba 1 collaboration

Oscar Zaar 1 collaboration

Alexander Larson 1 collaboration

Sam Polesie 1 collaboration

Karim Saleh 1 collaboration

Mikael Tarstedt 1 collaboration

Antonio Olives 1 collaboration

Andrea Suárez 1 collaboration

Martin Gillstedt 1 collaboration

Noora Neittaanmäki 1 collaboration

Elisabetta Flex 1 collaboration

Simone Martinelli 1 collaboration

Anke Van Dijck 1 collaboration

Andrea Ciolfi 1 collaboration

Serena Cecchetti 1 collaboration

Elisa Coluzzi 1 collaboration

Luca Pannone 1 collaboration

Cristina Andreoli 1 collaboration

Francesca Clementina Radio 1 collaboration

Simone Pizzi 1 collaboration

Giovanna Carpentieri 1 collaboration

Alessandro Bruselles 1 collaboration

Giuseppina Catanzaro 1 collaboration

Lucia Pedace 1 collaboration

Evelina Miele 1 collaboration

Elena Carcarino 1 collaboration

Xiaoyan Ge 1 collaboration

Chieko Chijiwa 1 collaboration

M E Suzanne Lewis 1 collaboration

Marije Meuwissen 1 collaboration

Sandra Kenis 1 collaboration

Nathalie Van der Aa 1 collaboration

Kathleen Brown 1 collaboration

Melissa P Wasserstein 1 collaboration

Brian G Skotko 1 collaboration

Amber Begtrup 1 collaboration

Richard Person 1 collaboration

Maria Karayiorgou 1 collaboration

J Louw Roos 1 collaboration

Koen L Van Gassen 1 collaboration

Marije Koopmans 1 collaboration

Emilia K Bijlsma 1 collaboration

Gijs W E Santen 1 collaboration

Daniela Q C M Barge-Schaapveld 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Mariette J V Hoffer 1 collaboration

Seema R Lalani 1 collaboration

Haley Streff 1 collaboration

William J Craigen 1 collaboration

Brett H Graham 1 collaboration

Annette P M van den Elzen 1 collaboration

Daan J Kamphuis 1 collaboration

Katrin Õunap 1 collaboration

Karit Reinson 1 collaboration

Sander Pajusalu 1 collaboration

Monica H Wojcik 1 collaboration

Clara Viberti 1 collaboration

Cornelia Di Gaetano 1 collaboration

Enrico Bertini 1 collaboration

Simona Petrucci 1 collaboration

Alessandro De Luca 1 collaboration

Rossella Rota 1 collaboration

Elisabetta Ferretti 1 collaboration

Giuseppe Matullo 1 collaboration

Bruno Dallapiccola 1 collaboration

Antonella Sgura 1 collaboration

Magdalena Walkiewicz 1 collaboration

R Frank Kooy 1 collaboration

Marco Tartaglia 1 collaboration