Simone Blaser

Publications (14)

Brain and Placental Pathology in Fetal COL4A1 Related Disease.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Avec: Patrick Shannon , Courtney Hum , Tony Parks , G M Schauer , David Chitayat , Karen Chong , Shiri Shinar , Susan Blaser , Gaea Moore , Tim Van Mieghem

Quantum cascade lasers with discrete and non equidistant extended tuning tailored by simulated annealing.

Optics express

Avec: Nicolas Villa , Grégory Strübi , Tobias Gresch , Jérémy Butet , Stéphane Blaser , Antoine Müller

Evaluating next-generation sequencing (NGS) methods for routine monitoring of wild bees: Metabarcoding, mitogenomics or NGS barcoding.

Molecular ecology resources

Avec: Morgan Gueuning , Dominik Ganser , Simon Blaser , Matthias Albrecht , Eva Knop , Christophe Praz , Juerg E Frey

The sixth international RASopathies symposium: Precision medicine-From promise to practice.

American journal of medical genetics. Part A

Avec: Karen W Gripp , Lisa Schill , Lisa Schoyer , Beth Stronach , Anton M Bennett , Susan Blaser , Amanda Brown , Rebecca Burdine , Emma Burkitt-Wright , Pau Castel , Sandra Darilek , Alwyn Dias , Tuesdi Dyer , Michelle Ellis , Gregg Erickson , Bruce D Gelb , Tamar Green , Andrea Gross , Alan Ho , James Lloyd Holder , Shin-Ichi Inoue , Angie C Jelin , Annie Kennedy , Richard Klein , Maria I Kontaridis , Pilar Magoulas , Darryl B McConnell , Frank McCormick , Benjamin G Neel , Carlos E Prada , Katherine A Rauen , Amy Roberts , Pablo Rodriguez-Viciana , Neal Rosen , Gavin Rumbaugh , Anna Sablina , Maja Solman , Marco Tartaglia , Angelica Thomas , William C Timmer , Kartik Venkatachalam , Karin S Walsh , Pamela L Wolters , Jae-Sung Yi , Martin Zenker , Nancy Ratner

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

JIMD reports

Avec: Abdulhakim Jilani , Diana Matviychuk , Susan Blaser , Sarah Dyack , Jean Mathieu , Asuri N Prasad , Chitra Prasad , Lianna Kyriakopoulou , Saadet Mercimek-Andrews

High performance quantum cascade laser frequency combs at λ ∼ 6 μm based on plasmon-enhanced dispersion compensation.

Optics express

Avec: Sargis Hakobyan , Richard Maulini , Stéphane Blaser , Tobias Gresch , Antoine Muller

Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses.

AJNR. American journal of neuroradiology

Avec: A Biswas , P Krishnan , A Amirabadi , S Blaser , S Mercimek-Andrews , M Shroff

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Brain : a journal of neurology

Avec: Ashish R Deshwar , Cheryl Cytrynbaum , Harsha Murthy , Jessica Zon , David Chitayat , Jonathan Volpatti , Ruth Newbury-Ecob , Sian Ellard , Hana Lango Allen , Emily P Yu , Ramil Noche , Suzi Walker , Stephen W Scherer , Sonal Mahida , Christopher M Elitt , Gaël Nicolas , Alice Goldenberg , Pascale Saugier-Veber , Francois Lecoquierre , Ivana Dabaj , Hannah Meddaugh , Michael Marble , Kim M Keppler-Noreuil , Lucy Drayson , Kristin W Barañano , Anna Chassevent , Katie Agre , Pascaline Létard , Frederic Bilan , Gwenaël Le Guyader , Annie Laquerrière , Keri Ramsey , Lindsay Henderson , Lauren Brady , Mark Tarnopolsky , Matthew Bainbridge , Jennifer Friedman , Yline Capri , Larissa Athayde , Fernando Kok , Juliana Gurgel-Giannetti , Luiza L P Ramos , Susan Blaser , James J Dowling , Rosanna Weksberg

Rapid Detection of Volatile Organic Compounds by Switch-Scan Tuning of Vernier Quantum-Cascade Lasers.

Analytical chemistry

Avec: Raphael Brechbühler , Miloš Selaković , Philipp Scheidegger , Herbert Looser , André Kupferschmid , Stéphane Blaser , Jérémy Butet , Lukas Emmenegger , Béla Tuzson

Neuroimaging Features of Biotinidase Deficiency.

AJNR. American journal of neuroradiology

Avec: A Biswas , C McNamara , V K Gowda , F Gala , S Sudhakar , J Sidpra , M S Vari , P Striano , S Blaser , M Severino , S Batzios , K Mankad

Associations Between Age at Arterial Switch Operation, Brain Growth, and Development in Infants With Transposition of the Great Arteries.

Circulation

Avec: Jessie Mei Lim , Prashob Porayette , Davide Marini , Vann Chau , Stephanie H Au-Young , Amandeep Saini , Linh G Ly , Susan Blaser , Manohar Shroff , Helen M Branson , Renee Sananes , Edward J Hickey , J William Gaynor , Glen Van Arsdell , Steven P Miller , Mike Seed

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

Human mutation

Avec: Justin O Szot , Anne Slavotinek , Karen Chong , Oliver Brandau , Marjan Nezarati , Anna M Cueto-González , Millan S Patel , Walter P Devine , Shannon Rego , Alicia P Acyinena , Patrick Shannon , Diane Myles-Reid , Susan Blaser , Tim V Mieghem , Halenur Yavuz-Kienle , Heyko Skladny , Kristen Miller , Miereia D T Riera , Silvia A Martínez , Eduardo F Tizzano , Lucie Dupuis , Dimitri James Stavropoulos , Vanda McNiven , Roberto Mendoza-Londono , Alison M Elliott , Auteur inconnu , Robert S Phillips , Gavin Chapman , Sally L Dunwoodie

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a

Molecular genetics and metabolism reports

Avec: Whiwon Lee , Gregory Costain , Susan Blaser , Susan Walker , Christian R Marshall , Hernan Gonorazky , Michal Inbar-Feigenberg

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations.

Brain : a journal of neurology

Avec: Jorge Diaz , Xavier Gérard , Michel-Boris Emerit , Julie Areias , David Geny , Julie Dégardin , Manuel Simonutti , Marie-Justine Guerquin , Thibault Collin , Cécile Viollet , Jean-Marie Billard , Christine Métin , Laurence Hubert , Farzaneh Larti , Kimia Kahrizi , Rebekah Jobling , Emanuele Agolini , Ranad Shaheen , Alban Zigler , Virginie Rouiller-Fabre , Jean-Michel Rozet , Serge Picaud , Antonio Novelli , Seham Alameer , Hossein Najmabadi , Ronald Cohn , Arnold Munnich , Magalie Barth , Licia Lugli , Fowzan S Alkuraya , Susan Blaser , Maha Gashlan , Claude Besmond , Michèle Darmon , Justine Masson

Réseau de co-auteurs

Susan Blaser 8 collaborations

Stéphane Blaser 3 collaborations

Patrick Shannon 2 collaborations

David Chitayat 2 collaborations

Karen Chong 2 collaborations

Tobias Gresch 2 collaborations

Jérémy Butet 2 collaborations

A Biswas 2 collaborations

S Blaser 2 collaborations

Courtney Hum 1 collaboration

Tony Parks 1 collaboration

G M Schauer 1 collaboration

Shiri Shinar 1 collaboration

Gaea Moore 1 collaboration

Tim Van Mieghem 1 collaboration

Nicolas Villa 1 collaboration

Grégory Strübi 1 collaboration

Antoine Müller 1 collaboration

Morgan Gueuning 1 collaboration

Dominik Ganser 1 collaboration

Simon Blaser 1 collaboration

Matthias Albrecht 1 collaboration

Eva Knop 1 collaboration

Christophe Praz 1 collaboration

Juerg E Frey 1 collaboration

Karen W Gripp 1 collaboration

Lisa Schill 1 collaboration

Lisa Schoyer 1 collaboration

Beth Stronach 1 collaboration

Anton M Bennett 1 collaboration

Amanda Brown 1 collaboration

Rebecca Burdine 1 collaboration

Emma Burkitt-Wright 1 collaboration

Pau Castel 1 collaboration

Sandra Darilek 1 collaboration

Alwyn Dias 1 collaboration

Tuesdi Dyer 1 collaboration

Michelle Ellis 1 collaboration

Gregg Erickson 1 collaboration

Bruce D Gelb 1 collaboration

Tamar Green 1 collaboration

Andrea Gross 1 collaboration

Alan Ho 1 collaboration

James Lloyd Holder 1 collaboration

Shin-Ichi Inoue 1 collaboration

Angie C Jelin 1 collaboration

Annie Kennedy 1 collaboration

Richard Klein 1 collaboration

Maria I Kontaridis 1 collaboration

Pilar Magoulas 1 collaboration

Darryl B McConnell 1 collaboration

Frank McCormick 1 collaboration

Benjamin G Neel 1 collaboration

Carlos E Prada 1 collaboration

Katherine A Rauen 1 collaboration

Amy Roberts 1 collaboration

Pablo Rodriguez-Viciana 1 collaboration

Neal Rosen 1 collaboration

Gavin Rumbaugh 1 collaboration

Anna Sablina 1 collaboration

Maja Solman 1 collaboration

Marco Tartaglia 1 collaboration

Angelica Thomas 1 collaboration

William C Timmer 1 collaboration

Kartik Venkatachalam 1 collaboration

Karin S Walsh 1 collaboration

Pamela L Wolters 1 collaboration

Jae-Sung Yi 1 collaboration

Martin Zenker 1 collaboration

Nancy Ratner 1 collaboration

Abdulhakim Jilani 1 collaboration

Diana Matviychuk 1 collaboration

Sarah Dyack 1 collaboration

Jean Mathieu 1 collaboration

Asuri N Prasad 1 collaboration

Chitra Prasad 1 collaboration

Lianna Kyriakopoulou 1 collaboration

Saadet Mercimek-Andrews 1 collaboration

Sargis Hakobyan 1 collaboration

Richard Maulini 1 collaboration

Antoine Muller 1 collaboration

P Krishnan 1 collaboration

A Amirabadi 1 collaboration

S Mercimek-Andrews 1 collaboration

M Shroff 1 collaboration

Ashish R Deshwar 1 collaboration

Cheryl Cytrynbaum 1 collaboration

Harsha Murthy 1 collaboration

Jessica Zon 1 collaboration

Jonathan Volpatti 1 collaboration

Ruth Newbury-Ecob 1 collaboration

Sian Ellard 1 collaboration

Hana Lango Allen 1 collaboration

Emily P Yu 1 collaboration

Ramil Noche 1 collaboration

Suzi Walker 1 collaboration

Stephen W Scherer 1 collaboration

Sonal Mahida 1 collaboration

Christopher M Elitt 1 collaboration

Gaël Nicolas 1 collaboration

Alice Goldenberg 1 collaboration

Pascale Saugier-Veber 1 collaboration

Francois Lecoquierre 1 collaboration

Ivana Dabaj 1 collaboration

Hannah Meddaugh 1 collaboration

Michael Marble 1 collaboration

Kim M Keppler-Noreuil 1 collaboration

Lucy Drayson 1 collaboration

Kristin W Barañano 1 collaboration

Anna Chassevent 1 collaboration

Katie Agre 1 collaboration

Pascaline Létard 1 collaboration

Frederic Bilan 1 collaboration

Gwenaël Le Guyader 1 collaboration

Annie Laquerrière 1 collaboration

Keri Ramsey 1 collaboration

Lindsay Henderson 1 collaboration

Lauren Brady 1 collaboration

Mark Tarnopolsky 1 collaboration

Matthew Bainbridge 1 collaboration

Jennifer Friedman 1 collaboration

Yline Capri 1 collaboration

Larissa Athayde 1 collaboration

Fernando Kok 1 collaboration

Juliana Gurgel-Giannetti 1 collaboration

Luiza L P Ramos 1 collaboration

James J Dowling 1 collaboration

Rosanna Weksberg 1 collaboration

Raphael Brechbühler 1 collaboration

Miloš Selaković 1 collaboration

Philipp Scheidegger 1 collaboration

Herbert Looser 1 collaboration

André Kupferschmid 1 collaboration

Lukas Emmenegger 1 collaboration

Béla Tuzson 1 collaboration

C McNamara 1 collaboration

V K Gowda 1 collaboration

F Gala 1 collaboration

S Sudhakar 1 collaboration

J Sidpra 1 collaboration

M S Vari 1 collaboration

P Striano 1 collaboration

M Severino 1 collaboration

S Batzios 1 collaboration

K Mankad 1 collaboration

Jessie Mei Lim 1 collaboration

Prashob Porayette 1 collaboration

Davide Marini 1 collaboration

Vann Chau 1 collaboration

Stephanie H Au-Young 1 collaboration

Amandeep Saini 1 collaboration

Linh G Ly 1 collaboration

Manohar Shroff 1 collaboration

Helen M Branson 1 collaboration

Renee Sananes 1 collaboration

Edward J Hickey 1 collaboration

J William Gaynor 1 collaboration

Glen Van Arsdell 1 collaboration

Steven P Miller 1 collaboration

Mike Seed 1 collaboration

Justin O Szot 1 collaboration

Anne Slavotinek 1 collaboration

Oliver Brandau 1 collaboration

Marjan Nezarati 1 collaboration

Anna M Cueto-González 1 collaboration

Millan S Patel 1 collaboration

Walter P Devine 1 collaboration

Shannon Rego 1 collaboration

Alicia P Acyinena 1 collaboration

Diane Myles-Reid 1 collaboration

Tim V Mieghem 1 collaboration

Halenur Yavuz-Kienle 1 collaboration

Heyko Skladny 1 collaboration

Kristen Miller 1 collaboration

Miereia D T Riera 1 collaboration

Silvia A Martínez 1 collaboration

Eduardo F Tizzano 1 collaboration

Lucie Dupuis 1 collaboration

Dimitri James Stavropoulos 1 collaboration

Vanda McNiven 1 collaboration

Roberto Mendoza-Londono 1 collaboration

Alison M Elliott 1 collaboration

None None 1 collaboration

Robert S Phillips 1 collaboration

Gavin Chapman 1 collaboration

Sally L Dunwoodie 1 collaboration

Whiwon Lee 1 collaboration

Gregory Costain 1 collaboration

Susan Walker 1 collaboration

Christian R Marshall 1 collaboration

Hernan Gonorazky 1 collaboration

Michal Inbar-Feigenberg 1 collaboration

Jorge Diaz 1 collaboration

Xavier Gérard 1 collaboration

Michel-Boris Emerit 1 collaboration

Julie Areias 1 collaboration

David Geny 1 collaboration

Julie Dégardin 1 collaboration

Manuel Simonutti 1 collaboration

Marie-Justine Guerquin 1 collaboration

Thibault Collin 1 collaboration

Cécile Viollet 1 collaboration

Jean-Marie Billard 1 collaboration

Christine Métin 1 collaboration

Laurence Hubert 1 collaboration

Farzaneh Larti 1 collaboration

Kimia Kahrizi 1 collaboration

Rebekah Jobling 1 collaboration

Emanuele Agolini 1 collaboration

Ranad Shaheen 1 collaboration

Alban Zigler 1 collaboration

Virginie Rouiller-Fabre 1 collaboration

Jean-Michel Rozet 1 collaboration

Serge Picaud 1 collaboration

Antonio Novelli 1 collaboration

Seham Alameer 1 collaboration

Hossein Najmabadi 1 collaboration

Ronald Cohn 1 collaboration

Arnold Munnich 1 collaboration

Magalie Barth 1 collaboration

Licia Lugli 1 collaboration

Fowzan S Alkuraya 1 collaboration

Maha Gashlan 1 collaboration

Claude Besmond 1 collaboration

Michèle Darmon 1 collaboration

Justine Masson 1 collaboration