Stephanie A Bucks

Affiliations

Department of Neurology, University of Washington, Seattle Washington USA.

Publications (6)

A familial missense variant in the Alzheimer's Disease gene

bioRxiv : the preprint server for biology

Avec: Elnaz Fazeli , Daniel D Child , Stephanie A Bucks , Miki Stovarsky , Gabrielle Edwards , Shannon E Rose , Chang-En Yu , Caitlin Latimer , Yu Kitago , Thomas Bird , Suman Jayadev , Olav M Andersen , Jessica E Young

A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.

Acta neuropathologica

Avec: Elnaz Fazeli , Daniel D Child , Stephanie A Bucks , Miki Stovarsky , Gabrielle Edwards , Shannon E Rose , Chang-En Yu , Caitlin Latimer , Yu Kitago , Thomas Bird , Suman Jayadev , Olav M Andersen , Jessica E Young

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

NPJ genomic medicine

Avec: Josephina A N Meester , Anne Hebert , Maaike Bastiaansen , Laura Rabaut , Jarl Bastianen , Nele Boeckx , Kathryn Ashcroft , Paldeep S Atwal , Antoine Benichou , Clarisse Billon , Jan D Blankensteijn , Paul Brennan , Stephanie A Bucks , Ian M Campbell , Solène Conrad , Stephanie L Curtis , Majed Dasouki , Carolyn L Dent , James Eden , Himanshu Goel , Verity Hartill , Arjan C Houweling , Bertrand Isidor , Nicola Jackson , Pieter Koopman , Anita Korpioja , Minna Kraatari-Tiri , Liina Kuulavainen , Kelvin Lee , Karen J Low , Alan C Lu , Morgan L McManus , Stephen P Oakley , James Oliver , Nicole M Organ , Eline Overwater , Nicole Revencu , Alison H Trainer , Bhavya Trivedi , Claire L S Turner , Rebecca Whittington , Andreas Zankl , Dominica Zentner , Lut Van Laer , Aline Verstraeten , Bart L Loeys

Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.

Annals of clinical and translational neurology

Avec: Jacquelyn E Braggin , Stephanie A Bucks , Meredith M Course , Carole L Smith , Bryce Sopher , Leah Osnis , Kiel D Shuey , Kimiko Domoto-Reilly , Christina Caso , Chizuru Kinoshita , Kathryn P Scherpelz , Chloe Cross , Thomas Grabowski , Seyyed H M Nik , Morgan Newman , Gwenn A Garden , James B Leverenz , Debby Tsuang , Caitlin Latimer , Luis F Gonzalez-Cuyar , Christopher Dirk Keene , Richard S Morrison , Kristoffer Rhoads , Ellen M Wijsman , Michael O Dorschner , Michael Lardelli , Jessica E Young , Paul N Valdmanis , Thomas D Bird , Suman Jayadev

NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease.

Journal of the neurological sciences

Avec: Olena Korvatska , Stephanie A Bucks , Rebecca A Yoda , Amber Nolan , Michael O Dorschner , Debby Tsuang , Suman Jayadev , Wendy H Raskind , Thomas D Bird

Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations.

Aging pathobiology and therapeutics

Avec: Renuka Kandhaya-Pillai , Fuki M Hisama , Stephanie A Bucks , Soe Yarzar , Haroula Korovou , George M Martin , Junko Oshima

Réseau de co-auteurs

Suman Jayadev 4 collaborations

Caitlin Latimer 3 collaborations

Jessica E Young 3 collaborations

Elnaz Fazeli 2 collaborations

Daniel D Child 2 collaborations

Miki Stovarsky 2 collaborations

Gabrielle Edwards 2 collaborations

Shannon E Rose 2 collaborations

Chang-En Yu 2 collaborations

Yu Kitago 2 collaborations

Thomas Bird 2 collaborations

Olav M Andersen 2 collaborations

Debby Tsuang 2 collaborations

Michael O Dorschner 2 collaborations

Thomas D Bird 2 collaborations

Josephina A N Meester 1 collaboration

Anne Hebert 1 collaboration

Maaike Bastiaansen 1 collaboration

Laura Rabaut 1 collaboration

Jarl Bastianen 1 collaboration

Nele Boeckx 1 collaboration

Kathryn Ashcroft 1 collaboration

Paldeep S Atwal 1 collaboration

Antoine Benichou 1 collaboration

Clarisse Billon 1 collaboration

Jan D Blankensteijn 1 collaboration

Paul Brennan 1 collaboration

Ian M Campbell 1 collaboration

Solène Conrad 1 collaboration

Stephanie L Curtis 1 collaboration

Majed Dasouki 1 collaboration

Carolyn L Dent 1 collaboration

James Eden 1 collaboration

Himanshu Goel 1 collaboration

Verity Hartill 1 collaboration

Arjan C Houweling 1 collaboration

Bertrand Isidor 1 collaboration

Nicola Jackson 1 collaboration

Pieter Koopman 1 collaboration

Anita Korpioja 1 collaboration

Minna Kraatari-Tiri 1 collaboration

Liina Kuulavainen 1 collaboration

Kelvin Lee 1 collaboration

Karen J Low 1 collaboration

Alan C Lu 1 collaboration

Morgan L McManus 1 collaboration

Stephen P Oakley 1 collaboration

James Oliver 1 collaboration

Nicole M Organ 1 collaboration

Eline Overwater 1 collaboration

Nicole Revencu 1 collaboration

Alison H Trainer 1 collaboration

Bhavya Trivedi 1 collaboration

Claire L S Turner 1 collaboration

Rebecca Whittington 1 collaboration

Andreas Zankl 1 collaboration

Dominica Zentner 1 collaboration

Lut Van Laer 1 collaboration

Aline Verstraeten 1 collaboration

Bart L Loeys 1 collaboration

Jacquelyn E Braggin 1 collaboration

Meredith M Course 1 collaboration

Carole L Smith 1 collaboration

Bryce Sopher 1 collaboration

Leah Osnis 1 collaboration

Kiel D Shuey 1 collaboration

Kimiko Domoto-Reilly 1 collaboration

Christina Caso 1 collaboration

Chizuru Kinoshita 1 collaboration

Kathryn P Scherpelz 1 collaboration

Chloe Cross 1 collaboration

Thomas Grabowski 1 collaboration

Seyyed H M Nik 1 collaboration

Morgan Newman 1 collaboration

Gwenn A Garden 1 collaboration

James B Leverenz 1 collaboration

Luis F Gonzalez-Cuyar 1 collaboration

Christopher Dirk Keene 1 collaboration

Richard S Morrison 1 collaboration

Kristoffer Rhoads 1 collaboration

Ellen M Wijsman 1 collaboration

Michael Lardelli 1 collaboration

Paul N Valdmanis 1 collaboration

Olena Korvatska 1 collaboration

Rebecca A Yoda 1 collaboration

Amber Nolan 1 collaboration

Wendy H Raskind 1 collaboration

Renuka Kandhaya-Pillai 1 collaboration

Fuki M Hisama 1 collaboration

Soe Yarzar 1 collaboration

Haroula Korovou 1 collaboration

George M Martin 1 collaboration

Junko Oshima 1 collaboration