Laura Roht

Affiliations

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.
Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.

Publications (7)

The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General Population.

Cancers

Avec: Laura Roht , Piret Laidre , Mikk Tooming , Neeme Tõnisson , Margit Nõukas , Miriam Nurm , Estonian Biobank Research Team , Hanno Roomere , Kadri Rekker , Kadri Toome , Olga Fjodorova , Ülle Murumets , Ustina Šamarina , Sander Pajusalu , Anu Aaspõllu , Liis Salumäe , Kristina Muhu , Jaan Soplepmann , Katrin Õunap , Tiina Kahre

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

American journal of human genetics

Avec: Jacob R Stolz , Kendall M Foote , Hermine E Veenstra-Knol , Rolph Pfundt , Sanne W Ten Broeke , Nicole de Leeuw , Laura Roht , Sander Pajusalu , Reelika Part , Ionella Rebane , Katrin Õunap , Zornitza Stark , Edwin P Kirk , John A Lawson , Sebastian Lunke , John Christodoulou , Raymond J Louie , R Curtis Rogers , Jessica M Davis , A Micheil Innes , Xing-Chang Wei , Boris Keren , Cyril Mignot , Robert Roger Lebel , Steven M Sperber , Ai Sakonju , Nienke Dosa , Daniela Q C M Barge-Schaapveld , Cacha M P C D Peeters-Scholte , Claudia A L Ruivenkamp , Bregje W van Bon , Joanna Kennedy , Karen J Low , Sian Ellard , Lewis Pang , Joseph J Junewick , Paul R Mark , Gemma L Carvill , Geoffrey T Swanson

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

Human mutation

Avec: Beau D E Janssen , Marie-Jose H van den Boogaard , Klaske Lichtenbelt , Eleanor G Seaby , Karen Stals , Sian Ellard , Ruth Newbury-Ecob , Abhijit Dixit , Laura Roht , Sander Pajusalu , Katrin Õunap , Helen V Firth , Michael Buckley , Meredith Wilson , Tony Roscioli , Timothy Tidwell , Rong Mao , Sarah Ennis , Sjoerd J Holwerda , Koen van Gassen , Richard H van Jaarsveld

AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.

Molecular genetics & genomic medicine

Avec: Laura Roht , Hanne K Hyldebrandt , Astrid T Stormorken , Hilde Nordgarden , Rolf H Sijmons , Dennis K Bos , Douglas Riegert-Johnson , Sarah Mantia-Macklin , Pilvi Ilves , Kai Muru , Monica H Wojcik , Tiina Kahre , Katrin Õunap

Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting.

Frontiers in genetics

Avec: Hannes Jürgens , Laura Roht , Liis Leitsalu , Margit Nõukas , Marili Palover , Tiit Nikopensius , Anu Reigo , Mart Kals , Kersti Kallak , Riina Kütner , Kai Budrikas , Saskia Kuusk , Vahur Valvere , Piret Laidre , Kadri Toome , Kadri Rekker , Mikk Tooming , Ülle Murumets , Tiina Kahre , Krista Kruuv-Käo , Katrin Õunap , Peeter Padrik , Andres Metspalu , Tõnu Esko , Krista Fischer , Neeme Tõnisson

Natural history of KBG syndrome in a large European cohort.

Human molecular genetics

Avec: Lorenzo Loberti , Lucia Pia Bruno , Stefania Granata , Gabriella Doddato , Sara Resciniti , Francesca Fava , Michele Carullo , Elisa Rahikkala , Guillaume Jouret , Leonie A Menke , Damien Lederer , Pascal Vrielynck , Lukáš Ryba , Nicola Brunetti-Pierri , Amaia Lasa-Aranzasti , Anna Maria Cueto-González , Laura Trujillano , Irene Valenzuela , Eduardo F Tizzano , Alessandro Mauro Spinelli , Irene Bruno , Aurora Currò , Franco Stanzial , Francesco Benedicenti , Diego Lopergolo , Filippo Maria Santorelli , Constantia Aristidou , George A Tanteles , Isabelle Maystadt , Tinatin Tkemaladze , Tiia Reimand , Helen Lokke , Katrin Õunap , Maria K Haanpää , Andrea Holubová , Veronika Zoubková , Martin Schwarz , Riina Žordania , Kai Muru , Laura Roht , Annika Tihveräinen , Rita Teek , Ulvi Thomson , Isis Atallah , Andrea Superti-Furga , Sabrina Buoni , Roberto Canitano , Valeria Scandurra , Annalisa Rossetti , Salvatore Grosso , Roberta Battini , Margherita Baldassarri , Maria Antonietta Mencarelli , Caterina Lo Rizzo , Mirella Bruttini , Francesca Mari , Francesca Ariani , Alessandra Renieri , Anna Maria Pinto

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.

European journal of medical genetics

Avec: Linda A J Hendricks , Nicoline Hoogerbrugge , Hanka Venselaar , Stefan Aretz , Isabel Spier , Eric Legius , Hilde Brems , Robin de Putter , Kathleen B M Claes , D Gareth Evans , Emma R Woodward , Maurizio Genuardi , Fulvia Brugnoletti , Yvette van Ierland , Kim Dijke , Emma Tham , Bianca Tesi , Janneke H M Schuurs-Hoeijmakers , Maud Branchaud , Hector Salvador , Arne Jahn , Simon Schnaiter , Violetta Christophidou Anastasiadou , Joan Brunet , Carla Oliveira , Laura Roht , Ana Blatnik , Arvids Irmejs , Auteur inconnu , Arjen R Mensenkamp , Janet R Vos

Réseau de co-auteurs

Katrin Õunap 6 collaborations

Sander Pajusalu 3 collaborations

Tiina Kahre 3 collaborations

Piret Laidre 2 collaborations

Mikk Tooming 2 collaborations

Neeme Tõnisson 2 collaborations

Margit Nõukas 2 collaborations

Kadri Rekker 2 collaborations

Kadri Toome 2 collaborations

Sian Ellard 2 collaborations

Kai Muru 2 collaborations

Miriam Nurm 1 collaboration

None Estonian Biobank Research Team 1 collaboration

Hanno Roomere 1 collaboration

Olga Fjodorova 1 collaboration

Ülle Murumets 1 collaboration

Ustina Šamarina 1 collaboration

Anu Aaspõllu 1 collaboration

Liis Salumäe 1 collaboration

Kristina Muhu 1 collaboration

Jaan Soplepmann 1 collaboration

Jacob R Stolz 1 collaboration

Kendall M Foote 1 collaboration

Hermine E Veenstra-Knol 1 collaboration

Rolph Pfundt 1 collaboration

Sanne W Ten Broeke 1 collaboration

Nicole de Leeuw 1 collaboration

Reelika Part 1 collaboration

Ionella Rebane 1 collaboration

Zornitza Stark 1 collaboration

Edwin P Kirk 1 collaboration

John A Lawson 1 collaboration

Sebastian Lunke 1 collaboration

John Christodoulou 1 collaboration

Raymond J Louie 1 collaboration

R Curtis Rogers 1 collaboration

Jessica M Davis 1 collaboration

A Micheil Innes 1 collaboration

Xing-Chang Wei 1 collaboration

Boris Keren 1 collaboration

Cyril Mignot 1 collaboration

Robert Roger Lebel 1 collaboration

Steven M Sperber 1 collaboration

Ai Sakonju 1 collaboration

Nienke Dosa 1 collaboration

Daniela Q C M Barge-Schaapveld 1 collaboration

Cacha M P C D Peeters-Scholte 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Bregje W van Bon 1 collaboration

Joanna Kennedy 1 collaboration

Karen J Low 1 collaboration

Lewis Pang 1 collaboration

Joseph J Junewick 1 collaboration

Paul R Mark 1 collaboration

Gemma L Carvill 1 collaboration

Geoffrey T Swanson 1 collaboration

Beau D E Janssen 1 collaboration

Marie-Jose H van den Boogaard 1 collaboration

Klaske Lichtenbelt 1 collaboration

Eleanor G Seaby 1 collaboration

Karen Stals 1 collaboration

Ruth Newbury-Ecob 1 collaboration

Abhijit Dixit 1 collaboration

Helen V Firth 1 collaboration

Michael Buckley 1 collaboration

Meredith Wilson 1 collaboration

Tony Roscioli 1 collaboration

Timothy Tidwell 1 collaboration

Rong Mao 1 collaboration

Sarah Ennis 1 collaboration

Sjoerd J Holwerda 1 collaboration

Koen van Gassen 1 collaboration

Richard H van Jaarsveld 1 collaboration

Hanne K Hyldebrandt 1 collaboration

Astrid T Stormorken 1 collaboration

Hilde Nordgarden 1 collaboration

Rolf H Sijmons 1 collaboration

Dennis K Bos 1 collaboration

Douglas Riegert-Johnson 1 collaboration

Sarah Mantia-Macklin 1 collaboration

Pilvi Ilves 1 collaboration

Monica H Wojcik 1 collaboration

Hannes Jürgens 1 collaboration

Liis Leitsalu 1 collaboration

Marili Palover 1 collaboration

Tiit Nikopensius 1 collaboration

Anu Reigo 1 collaboration

Mart Kals 1 collaboration

Kersti Kallak 1 collaboration

Riina Kütner 1 collaboration

Kai Budrikas 1 collaboration

Saskia Kuusk 1 collaboration

Vahur Valvere 1 collaboration

None Ülle Murumets 1 collaboration

Krista Kruuv-Käo 1 collaboration

Peeter Padrik 1 collaboration

Andres Metspalu 1 collaboration

Tõnu Esko 1 collaboration

Krista Fischer 1 collaboration

Lorenzo Loberti 1 collaboration

Lucia Pia Bruno 1 collaboration

Stefania Granata 1 collaboration

Gabriella Doddato 1 collaboration

Sara Resciniti 1 collaboration

Francesca Fava 1 collaboration

Michele Carullo 1 collaboration

Elisa Rahikkala 1 collaboration

Guillaume Jouret 1 collaboration

Leonie A Menke 1 collaboration

Damien Lederer 1 collaboration

Pascal Vrielynck 1 collaboration

Lukáš Ryba 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Amaia Lasa-Aranzasti 1 collaboration

Anna Maria Cueto-González 1 collaboration

Laura Trujillano 1 collaboration

Irene Valenzuela 1 collaboration

Eduardo F Tizzano 1 collaboration

Alessandro Mauro Spinelli 1 collaboration

Irene Bruno 1 collaboration

Aurora Currò 1 collaboration

Franco Stanzial 1 collaboration

Francesco Benedicenti 1 collaboration

Diego Lopergolo 1 collaboration

Filippo Maria Santorelli 1 collaboration

Constantia Aristidou 1 collaboration

George A Tanteles 1 collaboration

Isabelle Maystadt 1 collaboration

Tinatin Tkemaladze 1 collaboration

Tiia Reimand 1 collaboration

Helen Lokke 1 collaboration

Maria K Haanpää 1 collaboration

Andrea Holubová 1 collaboration

Veronika Zoubková 1 collaboration

Martin Schwarz 1 collaboration

Riina Žordania 1 collaboration

Annika Tihveräinen 1 collaboration

Rita Teek 1 collaboration

Ulvi Thomson 1 collaboration

Isis Atallah 1 collaboration

Andrea Superti-Furga 1 collaboration

Sabrina Buoni 1 collaboration

Roberto Canitano 1 collaboration

Valeria Scandurra 1 collaboration

Annalisa Rossetti 1 collaboration

Salvatore Grosso 1 collaboration

Roberta Battini 1 collaboration

Margherita Baldassarri 1 collaboration

Maria Antonietta Mencarelli 1 collaboration

Caterina Lo Rizzo 1 collaboration

Mirella Bruttini 1 collaboration

Francesca Mari 1 collaboration

Francesca Ariani 1 collaboration

Alessandra Renieri 1 collaboration

Anna Maria Pinto 1 collaboration

Linda A J Hendricks 1 collaboration

Nicoline Hoogerbrugge 1 collaboration

Hanka Venselaar 1 collaboration

Stefan Aretz 1 collaboration

Isabel Spier 1 collaboration

Eric Legius 1 collaboration

Hilde Brems 1 collaboration

Robin de Putter 1 collaboration

Kathleen B M Claes 1 collaboration

D Gareth Evans 1 collaboration

Emma R Woodward 1 collaboration

Maurizio Genuardi 1 collaboration

Fulvia Brugnoletti 1 collaboration

Yvette van Ierland 1 collaboration

Kim Dijke 1 collaboration

Emma Tham 1 collaboration

Bianca Tesi 1 collaboration

Janneke H M Schuurs-Hoeijmakers 1 collaboration

Maud Branchaud 1 collaboration

Hector Salvador 1 collaboration

Arne Jahn 1 collaboration

Simon Schnaiter 1 collaboration

Violetta Christophidou Anastasiadou 1 collaboration

Joan Brunet 1 collaboration

Carla Oliveira 1 collaboration

Ana Blatnik 1 collaboration

Arvids Irmejs 1 collaboration

None None 1 collaboration

Arjen R Mensenkamp 1 collaboration

Janet R Vos 1 collaboration