Joshua Dalmann

Affiliations

The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Publications (7)

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?

American journal of medical genetics. Part A

Avec: Nour Gazzaz , F Graeme Frost , Emily Alderman , Phillip A Richmond , Joshua Dalmann , Susan Lin , Areesha Salman , Kate L Del Bel , Anna Lehman , Stuart E Turvey , Cornelius F Boerkoel , Praveen F Cherukuri

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

HGG advances

Avec: Simran Samra , Mehul Sharma , Maryam Vaseghi-Shanjani , Kate L Del Bel , Loryn Byres , Susan Lin , Joshua Dalmann , Areesha Salman , Jill Mwenifumbo , Bhavi P Modi , Catherine M Biggs , Cyrus Boelman , Lorne A Clarke , Anna Lehman , Auteur inconnu , Stuart E Turvey

Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?

European journal of medical genetics

Avec: Hui-Lin Chin , Susan Lin , Joshua Dalmann , Bhavi Modi , Emily Alderman , Areesha Salman , Kate L Del Bel , Anna Lehman , Stuart E Turvey , Cornelius F Boerkoel

Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.

American journal of medical genetics. Part A

Avec: Duha Hejla , Stephanie Huynh , Simran Samra , Phillip A Richmond , Joshua Dalmann , Kate L Del Bel , Loryn Byres , Anna Lehman , Stuart E Turvey , Cornelius F Boerkoel

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.

Blood

Avec: Mehul Sharma , Maggie P Fu , Henry Y Lu , Ashish A Sharma , Bhavi P Modi , Christina Michalski , Susan Lin , Joshua Dalmann , Areesha Salman , Kate L Del Bel , Meriam Waqas , Jefferson Terry , Audi Setiadi , Pascal M Lavoie , Wyeth W Wasserman , Jill Mwenifumbo , Michael S Kobor , Anna F Lee , Florian Kuchenbauer , Anna Lehman , Sylvia Cheng , Anthony Cooper , Millan S Patel , Stuart E Turvey

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.

The Journal of experimental medicine

Avec: Mehul Sharma , Daniel Leung , Mana Momenilandi , Lauren C W Jones , Lucia Pacillo , Alyssa E James , Jill R Murrell , Selket Delafontaine , Jesmeen Maimaris , Maryam Vaseghi-Shanjani , Kate L Del Bel , Henry Y Lu , Gilbert T Chua , Silvia Di Cesare , Oriol Fornes , Zhongyi Liu , Gigliola Di Matteo , Maggie P Fu , Donato Amodio , Issan Yee San Tam , Gavin Shueng Wai Chan , Ashish A Sharma , Joshua Dalmann , Robin van der Lee , Géraldine Blanchard-Rohner , Susan Lin , Quentin Philippot , Phillip A Richmond , Jessica J Lee , Allison Matthews , Michael Seear , Alexandra K Turvey , Rachael L Philips , Terri F Brown-Whitehorn , Christopher J Gray , Kosuke Izumi , James R Treat , Kathleen H Wood , Justin Lack , Asya Khleborodova , Julie E Niemela , Xingtian Yang , Rui Liang , Lin Kui , Christina Sze Man Wong , Grace Wing Kit Poon , Alexander Hoischen , Caspar I van der Made , Jing Yang , Koon Wing Chan , Jaime Sou Da Rosa Duque , Pamela Pui Wah Lee , Marco Hok Kung Ho , Brian Hon Yin Chung , Huong Thi Minh Le , Wanling Yang , Pejman Rohani , Ali Fouladvand , Hassan Rokni-Zadeh , Majid Changi-Ashtiani , Mohammad Miryounesi , Anne Puel , Mohammad Shahrooei , Andrea Finocchi , Paolo Rossi , Beatrice Rivalta , Cristina Cifaldi , Antonio Novelli , Chiara Passarelli , Stefania Arasi , Dominique Bullens , Kate Sauer , Tania Claeys , Catherine M Biggs , Emma C Morris , Sergio D Rosenzweig , John J O'Shea , Wyeth W Wasserman , H Melanie Bedford , Clara D M van Karnebeek , Paolo Palma , Siobhan O Burns , Isabelle Meyts , Jean-Laurent Casanova , Jonathan J Lyons , Nima Parvaneh , Anh Thi Van Nguyen , Caterina Cancrini , Jennifer Heimall , Hanan Ahmed , Margaret L McKinnon , Yu Lung Lau , Vivien Béziat , Stuart E Turvey

Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.

American journal of medical genetics. Part A

Avec: Adam P Sage , Hyun Kyung Lee , Joshua Dalmann , Susan Lin , Simran Samra , Areesha Salman , Kate L Del Bel , Wenhui Laura Li , Anna Lehman , Stuart E Turvey , Cornelius F Boerkoel , Phillip A Richmond

Réseau de co-auteurs

Kate L Del Bel 7 collaborations

Stuart E Turvey 7 collaborations

Susan Lin 6 collaborations

Anna Lehman 6 collaborations

Areesha Salman 5 collaborations

Phillip A Richmond 4 collaborations

Cornelius F Boerkoel 4 collaborations

Simran Samra 3 collaborations

Mehul Sharma 3 collaborations

Emily Alderman 2 collaborations

Maryam Vaseghi-Shanjani 2 collaborations

Loryn Byres 2 collaborations

Jill Mwenifumbo 2 collaborations

Bhavi P Modi 2 collaborations

Catherine M Biggs 2 collaborations

Maggie P Fu 2 collaborations

Henry Y Lu 2 collaborations

Ashish A Sharma 2 collaborations

Wyeth W Wasserman 2 collaborations

Nour Gazzaz 1 collaboration

F Graeme Frost 1 collaboration

Praveen F Cherukuri 1 collaboration

Cyrus Boelman 1 collaboration

Lorne A Clarke 1 collaboration

None None 1 collaboration

Hui-Lin Chin 1 collaboration

Bhavi Modi 1 collaboration

Duha Hejla 1 collaboration

Stephanie Huynh 1 collaboration

Christina Michalski 1 collaboration

Meriam Waqas 1 collaboration

Jefferson Terry 1 collaboration

Audi Setiadi 1 collaboration

Pascal M Lavoie 1 collaboration

Michael S Kobor 1 collaboration

Anna F Lee 1 collaboration

Florian Kuchenbauer 1 collaboration

Sylvia Cheng 1 collaboration

Anthony Cooper 1 collaboration

Millan S Patel 1 collaboration

Daniel Leung 1 collaboration

Mana Momenilandi 1 collaboration

Lauren C W Jones 1 collaboration

Lucia Pacillo 1 collaboration

Alyssa E James 1 collaboration

Jill R Murrell 1 collaboration

Selket Delafontaine 1 collaboration

Jesmeen Maimaris 1 collaboration

Gilbert T Chua 1 collaboration

Silvia Di Cesare 1 collaboration

Oriol Fornes 1 collaboration

Zhongyi Liu 1 collaboration

Gigliola Di Matteo 1 collaboration

Donato Amodio 1 collaboration

Issan Yee San Tam 1 collaboration

Gavin Shueng Wai Chan 1 collaboration

Robin van der Lee 1 collaboration

Géraldine Blanchard-Rohner 1 collaboration

Quentin Philippot 1 collaboration

Jessica J Lee 1 collaboration

Allison Matthews 1 collaboration

Michael Seear 1 collaboration

Alexandra K Turvey 1 collaboration

Rachael L Philips 1 collaboration

Terri F Brown-Whitehorn 1 collaboration

Christopher J Gray 1 collaboration

Kosuke Izumi 1 collaboration

James R Treat 1 collaboration

Kathleen H Wood 1 collaboration

Justin Lack 1 collaboration

Asya Khleborodova 1 collaboration

Julie E Niemela 1 collaboration

Xingtian Yang 1 collaboration

Rui Liang 1 collaboration

Lin Kui 1 collaboration

Christina Sze Man Wong 1 collaboration

Grace Wing Kit Poon 1 collaboration

Alexander Hoischen 1 collaboration

Caspar I van der Made 1 collaboration

Jing Yang 1 collaboration

Koon Wing Chan 1 collaboration

Jaime Sou Da Rosa Duque 1 collaboration

Pamela Pui Wah Lee 1 collaboration

Marco Hok Kung Ho 1 collaboration

Brian Hon Yin Chung 1 collaboration

Huong Thi Minh Le 1 collaboration

Wanling Yang 1 collaboration

Pejman Rohani 1 collaboration

Ali Fouladvand 1 collaboration

Hassan Rokni-Zadeh 1 collaboration

Majid Changi-Ashtiani 1 collaboration

Mohammad Miryounesi 1 collaboration

Anne Puel 1 collaboration

Mohammad Shahrooei 1 collaboration

Andrea Finocchi 1 collaboration

Paolo Rossi 1 collaboration

Beatrice Rivalta 1 collaboration

Cristina Cifaldi 1 collaboration

Antonio Novelli 1 collaboration

Chiara Passarelli 1 collaboration

Stefania Arasi 1 collaboration

Dominique Bullens 1 collaboration

Kate Sauer 1 collaboration

Tania Claeys 1 collaboration

Emma C Morris 1 collaboration

Sergio D Rosenzweig 1 collaboration

John J O'Shea 1 collaboration

H Melanie Bedford 1 collaboration

Clara D M van Karnebeek 1 collaboration

Paolo Palma 1 collaboration

Siobhan O Burns 1 collaboration

Isabelle Meyts 1 collaboration

Jean-Laurent Casanova 1 collaboration

Jonathan J Lyons 1 collaboration

Nima Parvaneh 1 collaboration

Anh Thi Van Nguyen 1 collaboration

Caterina Cancrini 1 collaboration

Jennifer Heimall 1 collaboration

Hanan Ahmed 1 collaboration

Margaret L McKinnon 1 collaboration

Yu Lung Lau 1 collaboration

Vivien Béziat 1 collaboration

Adam P Sage 1 collaboration

Hyun Kyung Lee 1 collaboration

Wenhui Laura Li 1 collaboration