Anna Baumer

Affiliations

Department of Biological Sciences, University at Albany, State University of New York, Albany, NY, USA.

Publications (9)

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

European journal of human genetics : EJHG

Avec: Sorina M Papuc , Lucia Abela , Katharina Steindl , Anaïs Begemann , Thomas L Simmons , Bernhard Schmitt , Markus Zweier , Beatrice Oneda , Eileen Socher , Lisa M Crowther , Gabriele Wohlrab , Laura Gogoll , Martin Poms , Michelle Seiler , Michael Papik , Rosa Baldinger , Alessandra Baumer , Reza Asadollahi , Judith Kroell-Seger , Regula Schmid , Tobias Iff , Thomas Schmitt-Mechelke , Karoline Otten , Annette Hackenberg , Marie-Claude Addor , Andrea Klein , Silvia Azzarello-Burri , Heinrich Sticht , Pascal Joset , Barbara Plecko , Anita Rauch

A Xp22.11-p21.3 microdeletion in a three-generation family supports male lethality of POLA1 nullisomy resulting in reduced fertility of female carriers.

European journal of medical genetics

Avec: Anaïs Begemann , Beatrice Oneda , Alessandra Baumer , Marina Guldimann , Boris Tutschek , Anita Rauch

CUGC for Simpson-Golabi-Behmel syndrome (SGBS).

European journal of human genetics : EJHG

Avec: Marie-Laure Vuillaume , Marie-Pierre Moizard , Alessandra Baumer , Edouard Cottereau , Frédéric Brioude , Anita Rauch , Annick Toutain

Association between gestational PFAS exposure and Children's adiposity in a diverse population.

Environmental research

Avec: Michael S Bloom , Sarah Commodore , Pamela L Ferguson , Brian Neelon , John L Pearce , Anna Baumer , Roger B Newman , William Grobman , Alan Tita , James Roberts , Daniel Skupski , Kristy Palomares , Michael Nageotte , Kurunthachalam Kannan , Cuilin Zhang , Ronald Wapner , John E Vena , Kelly J Hunt

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.

NPJ genomic medicine

Avec: Paranchai Boonsawat , Anselm H C Horn , Katharina Steindl , Alessandra Baumer , Pascal Joset , Dennis Kraemer , Angela Bahr , Ivan Ivanovski , Elena M Cabello , Michael Papik , Markus Zweier , Beatrice Oneda , Pietro Sirleto , Tilo Burkhardt , Heinrich Sticht , Anita Rauch

[Arm Swelling with a Camouflaged Cause].

Praxis

Avec: Katja Weiss , Andrea Baumer , Beat Knechtle

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons.

Human molecular genetics

Avec: R Asadollahi , I Delvendahl , R Muff , G Tan , D G Rodríguez , S Turan , M Russo , B Oneda , P Joset , P Boonsawat , R Masood , M Mocera , I Ivanovski , A Baumer , R Bachmann-Gagescu , R Schlapbach , H Rehrauer , K Steindl , A Begemann , A Reis , J Winkler , B Winner , M Müller , A Rauch

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.

European journal of human genetics : EJHG

Avec: Paolo Zanoni , Katharina Steindl , Heinrich Sticht , Beatrice Oneda , Pascal Joset , Ivan Ivanovski , Anselm H C Horn , Elena M Cabello , Julia Laube , Markus Zweier , Alessandra Baumer , Anita Rauch , Nadia Khan

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.

Life (Basel, Switzerland)

Avec: Adrian Belosevic , Anna-Elisabeth Minder , Morgan Gueuning , Franziska van Breemen , Gian Andri Thun , Maja P Mattle-Greminger , Stefan Meyer , Alessandra Baumer , Elisabeth I Minder , Xiaoye Schneider-Yin , Jasmin Barman-Aksözen

Réseau de co-auteurs

Alessandra Baumer 6 collaborations

Anita Rauch 5 collaborations

Beatrice Oneda 4 collaborations

Katharina Steindl 3 collaborations

Markus Zweier 3 collaborations

Heinrich Sticht 3 collaborations

Pascal Joset 3 collaborations

Anaïs Begemann 2 collaborations

Michael Papik 2 collaborations

Anselm H C Horn 2 collaborations

Ivan Ivanovski 2 collaborations

Elena M Cabello 2 collaborations

Sorina M Papuc 1 collaboration

Lucia Abela 1 collaboration

Thomas L Simmons 1 collaboration

Bernhard Schmitt 1 collaboration

Eileen Socher 1 collaboration

Lisa M Crowther 1 collaboration

Gabriele Wohlrab 1 collaboration

Laura Gogoll 1 collaboration

Martin Poms 1 collaboration

Michelle Seiler 1 collaboration

Rosa Baldinger 1 collaboration

Reza Asadollahi 1 collaboration

Judith Kroell-Seger 1 collaboration

Regula Schmid 1 collaboration

Tobias Iff 1 collaboration

Thomas Schmitt-Mechelke 1 collaboration

Karoline Otten 1 collaboration

Annette Hackenberg 1 collaboration

Marie-Claude Addor 1 collaboration

Andrea Klein 1 collaboration

Silvia Azzarello-Burri 1 collaboration

Barbara Plecko 1 collaboration

Marina Guldimann 1 collaboration

Boris Tutschek 1 collaboration

Marie-Laure Vuillaume 1 collaboration

Marie-Pierre Moizard 1 collaboration

Edouard Cottereau 1 collaboration

Frédéric Brioude 1 collaboration

Annick Toutain 1 collaboration

Michael S Bloom 1 collaboration

Sarah Commodore 1 collaboration

Pamela L Ferguson 1 collaboration

Brian Neelon 1 collaboration

John L Pearce 1 collaboration

Roger B Newman 1 collaboration

William Grobman 1 collaboration

Alan Tita 1 collaboration

James Roberts 1 collaboration

Daniel Skupski 1 collaboration

Kristy Palomares 1 collaboration

Michael Nageotte 1 collaboration

Kurunthachalam Kannan 1 collaboration

Cuilin Zhang 1 collaboration

Ronald Wapner 1 collaboration

John E Vena 1 collaboration

Kelly J Hunt 1 collaboration

Paranchai Boonsawat 1 collaboration

Dennis Kraemer 1 collaboration

Angela Bahr 1 collaboration

Pietro Sirleto 1 collaboration

Tilo Burkhardt 1 collaboration

Katja Weiss 1 collaboration

Andrea Baumer 1 collaboration

Beat Knechtle 1 collaboration

R Asadollahi 1 collaboration

I Delvendahl 1 collaboration

R Muff 1 collaboration

G Tan 1 collaboration

D G Rodríguez 1 collaboration

S Turan 1 collaboration

M Russo 1 collaboration

B Oneda 1 collaboration

P Joset 1 collaboration

P Boonsawat 1 collaboration

R Masood 1 collaboration

M Mocera 1 collaboration

I Ivanovski 1 collaboration

A Baumer 1 collaboration

R Bachmann-Gagescu 1 collaboration

R Schlapbach 1 collaboration

H Rehrauer 1 collaboration

K Steindl 1 collaboration

A Begemann 1 collaboration

A Reis 1 collaboration

J Winkler 1 collaboration

B Winner 1 collaboration

M Müller 1 collaboration

A Rauch 1 collaboration

Paolo Zanoni 1 collaboration

Julia Laube 1 collaboration

Nadia Khan 1 collaboration

Adrian Belosevic 1 collaboration

Anna-Elisabeth Minder 1 collaboration

Morgan Gueuning 1 collaboration

Franziska van Breemen 1 collaboration

Gian Andri Thun 1 collaboration

Maja P Mattle-Greminger 1 collaboration

Stefan Meyer 1 collaboration

Elisabeth I Minder 1 collaboration

Xiaoye Schneider-Yin 1 collaboration

Jasmin Barman-Aksözen 1 collaboration