Accueil
Cecilie F Rustad
Cecilie F Rustad
Affiliations
Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Publications (11)
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
Journal of inherited metabolic disease
Avec:
Mari-Anne Vals
,
Angel Ashikov
,
Pilvi Ilves
,
Dagmar Loorits
,
Qiang Zeng
,
Rita Barone
,
Karin Huijben
,
Jolanta Sykut-Cegielska
,
Luísa Diogo
,
Abdallah F Elias
,
Robert S Greenwood
,
Stephanie Grunewald
,
Peter M van Hasselt
,
Jiddeke M van de Kamp
,
Grazia Mancini
,
Agnieszka Okninska
,
Sander Pajusalu
,
Pauline M Rudd
,
Cecilie F Rustad
,
Ramona Salvarinova
,
Bert B A de Vries
,
Nicole I Wolf
,
Auteur inconnu
,
Bobby G Ng
,
Hudson H Freeze
,
Dirk J Lefeber
,
Katrin Õunap
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
American journal of human genetics
Avec:
Norine Voisin
,
Rhonda E Schnur
,
Sofia Douzgou
,
Susan M Hiatt
,
Cecilie F Rustad
,
Natasha J Brown
,
Dawn L Earl
,
Boris Keren
,
Olga Levchenko
,
Sinje Geuer
,
Sarah Verheyen
,
Diana Johnson
,
Yuri A Zarate
,
Miroslava Hančárová
,
David J Amor
,
E Martina Bebin
,
Jasmin Blatterer
,
Alfredo Brusco
,
Gerarda Cappuccio
,
Joel Charrow
,
Nicolas Chatron
,
Gregory M Cooper
,
Thomas Courtin
,
Elena Dadali
,
Julien Delafontaine
,
Ennio Del Giudice
,
Martine Doco
,
Ganka Douglas
,
Astrid Eisenkölbl
,
Tara Funari
,
Giuliana Giannuzzi
,
Ursula Gruber-Sedlmayr
,
Nicolas Guex
,
Delphine Heron
,
Øystein L Holla
,
Anna C E Hurst
,
Jane Juusola
,
David Kronn
,
Alexander Lavrov
,
Crystle Lee
,
Séverine Lorrain
,
Else Merckoll
,
Anna Mikhaleva
,
Jennifer Norman
,
Sylvain Pradervand
,
Darina Prchalová
,
Lindsay Rhodes
,
Victoria R Sanders
,
Zdeněk Sedláček
,
Heidelis A Seebacher
,
Elizabeth A Sellars
,
Fabio Sirchia
,
Toshiki Takenouchi
,
Akemi J Tanaka
,
Heidi Taska-Tench
,
Elin Tønne
,
Kristian Tveten
,
Giuseppina Vitiello
,
Markéta Vlčková
,
Tomoko Uehara
,
Caroline Nava
,
Binnaz Yalcin
,
Kenjiro Kosaki
,
Dian Donnai
,
Stefan Mundlos
,
Nicola Brunetti-Pierri
,
Wendy K Chung
,
Alexandre Reymond
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
NPJ genomic medicine
Avec:
Prince Jacob
,
Hillevi Lindelöf
,
Cecilie F Rustad
,
Vernon Reid Sutton
,
Shahida Moosa
,
Prajna Udupa
,
Anna Hammarsjö
,
Gandham SriLakshmi Bhavani
,
Dominyka Batkovskyte
,
Kristian Tveten
,
Ashwin Dalal
,
Eva Horemuzova
,
Ann Nordgren
,
Emma Tham
,
Hitesh Shah
,
Else Merckoll
,
Laura Orellana
,
Gen Nishimura
,
Katta M Girisha
,
Giedre Grigelioniene
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
American journal of medical genetics. Part A
Avec:
Lucy Bownass
,
Stephen Abbs
,
Ruth Armstrong
,
Genevieve Baujat
,
Gry Behzadi
,
Ragnhild Drage Berentsen
,
Christine Burren
,
Alistair Calder
,
Valérie Cormier-Daire
,
Ruth Newbury-Ecob
,
Nicola Foulds
,
Petur B Juliusson
,
Sarina G Kant
,
Henrietta Lefroy
,
Sarju G Mehta
,
Else Merckoll
,
Caroline Michot
,
Fergal Monsell
,
Amaka C Offiah
,
Allan Richards
,
Karen Rosendahl
,
Cecilie F Rustad
,
Deborah Shears
,
Kristian Tveten
,
Diana Wellesley
,
Paul Wordsworth
,
Auteur inconnu
,
Sarah Smithson
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
American journal of medical genetics. Part A
Avec:
Amy Hardcastle
,
Aliska M Berry
,
Ian M Campbell
,
Xiaonan Zhao
,
Pengfei Liu
,
Amanda E Gerard
,
Jill A Rosenfeld
,
Saumya D Sisoudiya
,
Andres Hernandez-Garcia
,
Sara Loddo
,
Silvia Di Tommaso
,
Antonio Novelli
,
Maria L Dentici
,
Rossella Capolino
,
Maria C Digilio
,
Ludovico Graziani
,
Cecilie F Rustad
,
Katherine Neas
,
Giovanni B Ferrero
,
Alfredo Brusco
,
Eleonora Di Gregorio
,
Diana Wellesley
,
Claire Beneteau
,
Madeleine Joubert
,
Kris Van Den Bogaert
,
Anneleen Boogaerts
,
Dominic J McMullan
,
John Dean
,
Maria G Giuffrida
,
Laura Bernardini
,
Vinod Varghese
,
Nora L Shannon
,
Rachel E Harrison
,
Wayne W K Lam
,
Shane McKee
,
Peter D Turnpenny
,
Trevor Cole
,
Jenny Morton
,
Jacqueline Eason
,
Marilyn C Jones
,
Rebecca Hall
,
Michael Wright
,
Karen Horridge
,
Chad A Shaw
,
Wendy K Chung
,
Daryl A Scott
A woman in her fifties with chronic muscle weakness.
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
Avec:
Cecilie F Rustad
,
Kristian Tveten
,
Geir J Braathen
,
Else Merckoll
,
Eva Kirkhus
,
Hanne Ludt Fossmo
,
Kristin Ørstavik
A monoallelic UXS1 variant associated with short-limbed short stature.
Molecular genetics & genomic medicine
Avec:
Cecilie F Rustad
,
Paul Hoff Backe
,
Chunsheng Jin
,
Else Merckoll
,
Kristian Tveten
,
Marissa Lucy Maciej-Hulme
,
Niclas Karlsson
,
Trine Prescott
,
Elise Sandås Sand
,
Berit Woldseth
,
Katja Benedikte Prestø Elgstøen
,
Øystein L Holla
De novo substitutions of TRPM3 cause intellectual disability and epilepsy.
European journal of human genetics : EJHG
Avec:
David A Dyment
,
Paulien A Terhal
,
Cecilie F Rustad
,
Kristian Tveten
,
Christopher Griffith
,
Parul Jayakar
,
Marwan Shinawi
,
Sara Ellingwood
,
Rosemarie Smith
,
Koen van Gassen
,
Kirsty McWalter
,
A Micheil Innes
,
Matthew A Lines
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up.
HemaSphere
Avec:
Panagiotis Baliakas
,
Bianca Tesi
,
Ulla Wartiovaara-Kautto
,
Asbjørg Stray-Pedersen
,
Lone Smidstrup Friis
,
Ingunn Dybedal
,
Randi Hovland
,
Kirsi Jahnukainen
,
Klas Raaschou-Jensen
,
Per Ljungman
,
Cecilie F Rustad
,
Charlotte K Lautrup
,
Outi Kilpivaara
,
Astrid Olsnes Kittang
,
Kirsten Grønbæk
,
Jörg Cammenga
,
Eva Hellström-Lindberg
,
Mette K Andersen
High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.
Orphanet journal of rare diseases
Avec:
Svein O Fredwall
,
Unni Steen
,
Olga de Vries
,
Cecilie F Rustad
,
Heidi Beate Eggesbø
,
Harald Weedon-Fekjær
,
Ingeborg B Lidal
,
Ravi Savarirayan
,
Grethe Månum
Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.
Orphanet journal of rare diseases
Avec:
Svein O Fredwall
,
Unni Steen
,
Olga de Vries
,
Cecilie F Rustad
,
Heidi Beate Eggesbø
,
Harald Weedon-Fekjær
,
Ingeborg B Lidal
,
Ravi Savarirayan
,
Grethe Månum
Réseau de co-auteurs
Kristian Tveten
6 collaborations
Else Merckoll
5 collaborations
None None
2 collaborations
Alfredo Brusco
2 collaborations
Øystein L Holla
2 collaborations
Wendy K Chung
2 collaborations
Diana Wellesley
2 collaborations
Svein O Fredwall
2 collaborations
Unni Steen
2 collaborations
Olga de Vries
2 collaborations
Heidi Beate Eggesbø
2 collaborations
Harald Weedon-Fekjær
2 collaborations
Ingeborg B Lidal
2 collaborations
Ravi Savarirayan
2 collaborations
Grethe Månum
2 collaborations
Mari-Anne Vals
1 collaboration
Angel Ashikov
1 collaboration
Pilvi Ilves
1 collaboration
Dagmar Loorits
1 collaboration
Qiang Zeng
1 collaboration
Rita Barone
1 collaboration
Karin Huijben
1 collaboration
Jolanta Sykut-Cegielska
1 collaboration
Luísa Diogo
1 collaboration
Abdallah F Elias
1 collaboration
Robert S Greenwood
1 collaboration
Stephanie Grunewald
1 collaboration
Peter M van Hasselt
1 collaboration
Jiddeke M van de Kamp
1 collaboration
Grazia Mancini
1 collaboration
Agnieszka Okninska
1 collaboration
Sander Pajusalu
1 collaboration
Pauline M Rudd
1 collaboration
Ramona Salvarinova
1 collaboration
Bert B A de Vries
1 collaboration
Nicole I Wolf
1 collaboration
Bobby G Ng
1 collaboration
Hudson H Freeze
1 collaboration
Dirk J Lefeber
1 collaboration
Katrin Õunap
1 collaboration
Norine Voisin
1 collaboration
Rhonda E Schnur
1 collaboration
Sofia Douzgou
1 collaboration
Susan M Hiatt
1 collaboration
Natasha J Brown
1 collaboration
Dawn L Earl
1 collaboration
Boris Keren
1 collaboration
Olga Levchenko
1 collaboration
Sinje Geuer
1 collaboration
Sarah Verheyen
1 collaboration
Diana Johnson
1 collaboration
Yuri A Zarate
1 collaboration
Miroslava Hančárová
1 collaboration
David J Amor
1 collaboration
E Martina Bebin
1 collaboration
Jasmin Blatterer
1 collaboration
Gerarda Cappuccio
1 collaboration
Joel Charrow
1 collaboration
Nicolas Chatron
1 collaboration
Gregory M Cooper
1 collaboration
Thomas Courtin
1 collaboration
Elena Dadali
1 collaboration
Julien Delafontaine
1 collaboration
Ennio Del Giudice
1 collaboration
Martine Doco
1 collaboration
Ganka Douglas
1 collaboration
Astrid Eisenkölbl
1 collaboration
Tara Funari
1 collaboration
Giuliana Giannuzzi
1 collaboration
Ursula Gruber-Sedlmayr
1 collaboration
Nicolas Guex
1 collaboration
Delphine Heron
1 collaboration
Anna C E Hurst
1 collaboration
Jane Juusola
1 collaboration
David Kronn
1 collaboration
Alexander Lavrov
1 collaboration
Crystle Lee
1 collaboration
Séverine Lorrain
1 collaboration
Anna Mikhaleva
1 collaboration
Jennifer Norman
1 collaboration
Sylvain Pradervand
1 collaboration
Darina Prchalová
1 collaboration
Lindsay Rhodes
1 collaboration
Victoria R Sanders
1 collaboration
Zdeněk Sedláček
1 collaboration
Heidelis A Seebacher
1 collaboration
Elizabeth A Sellars
1 collaboration
Fabio Sirchia
1 collaboration
Toshiki Takenouchi
1 collaboration
Akemi J Tanaka
1 collaboration
Heidi Taska-Tench
1 collaboration
Elin Tønne
1 collaboration
Giuseppina Vitiello
1 collaboration
Markéta Vlčková
1 collaboration
Tomoko Uehara
1 collaboration
Caroline Nava
1 collaboration
Binnaz Yalcin
1 collaboration
Kenjiro Kosaki
1 collaboration
Dian Donnai
1 collaboration
Stefan Mundlos
1 collaboration
Nicola Brunetti-Pierri
1 collaboration
Alexandre Reymond
1 collaboration
Prince Jacob
1 collaboration
Hillevi Lindelöf
1 collaboration
Vernon Reid Sutton
1 collaboration
Shahida Moosa
1 collaboration
Prajna Udupa
1 collaboration
Anna Hammarsjö
1 collaboration
Gandham SriLakshmi Bhavani
1 collaboration
Dominyka Batkovskyte
1 collaboration
Ashwin Dalal
1 collaboration
Eva Horemuzova
1 collaboration
Ann Nordgren
1 collaboration
Emma Tham
1 collaboration
Hitesh Shah
1 collaboration
Laura Orellana
1 collaboration
Gen Nishimura
1 collaboration
Katta M Girisha
1 collaboration
Giedre Grigelioniene
1 collaboration
Lucy Bownass
1 collaboration
Stephen Abbs
1 collaboration
Ruth Armstrong
1 collaboration
Genevieve Baujat
1 collaboration
Gry Behzadi
1 collaboration
Ragnhild Drage Berentsen
1 collaboration
Christine Burren
1 collaboration
Alistair Calder
1 collaboration
Valérie Cormier-Daire
1 collaboration
Ruth Newbury-Ecob
1 collaboration
Nicola Foulds
1 collaboration
Petur B Juliusson
1 collaboration
Sarina G Kant
1 collaboration
Henrietta Lefroy
1 collaboration
Sarju G Mehta
1 collaboration
Caroline Michot
1 collaboration
Fergal Monsell
1 collaboration
Amaka C Offiah
1 collaboration
Allan Richards
1 collaboration
Karen Rosendahl
1 collaboration
Deborah Shears
1 collaboration
Paul Wordsworth
1 collaboration
Sarah Smithson
1 collaboration
Amy Hardcastle
1 collaboration
Aliska M Berry
1 collaboration
Ian M Campbell
1 collaboration
Xiaonan Zhao
1 collaboration
Pengfei Liu
1 collaboration
Amanda E Gerard
1 collaboration
Jill A Rosenfeld
1 collaboration
Saumya D Sisoudiya
1 collaboration
Andres Hernandez-Garcia
1 collaboration
Sara Loddo
1 collaboration
Silvia Di Tommaso
1 collaboration
Antonio Novelli
1 collaboration
Maria L Dentici
1 collaboration
Rossella Capolino
1 collaboration
Maria C Digilio
1 collaboration
Ludovico Graziani
1 collaboration
Katherine Neas
1 collaboration
Giovanni B Ferrero
1 collaboration
Eleonora Di Gregorio
1 collaboration
Claire Beneteau
1 collaboration
Madeleine Joubert
1 collaboration
Kris Van Den Bogaert
1 collaboration
Anneleen Boogaerts
1 collaboration
Dominic J McMullan
1 collaboration
John Dean
1 collaboration
Maria G Giuffrida
1 collaboration
Laura Bernardini
1 collaboration
Vinod Varghese
1 collaboration
Nora L Shannon
1 collaboration
Rachel E Harrison
1 collaboration
Wayne W K Lam
1 collaboration
Shane McKee
1 collaboration
Peter D Turnpenny
1 collaboration
Trevor Cole
1 collaboration
Jenny Morton
1 collaboration
Jacqueline Eason
1 collaboration
Marilyn C Jones
1 collaboration
Rebecca Hall
1 collaboration
Michael Wright
1 collaboration
Karen Horridge
1 collaboration
Chad A Shaw
1 collaboration
Daryl A Scott
1 collaboration
Geir J Braathen
1 collaboration
Eva Kirkhus
1 collaboration
Hanne Ludt Fossmo
1 collaboration
Kristin Ørstavik
1 collaboration
Paul Hoff Backe
1 collaboration
Chunsheng Jin
1 collaboration
Marissa Lucy Maciej-Hulme
1 collaboration
Niclas Karlsson
1 collaboration
Trine Prescott
1 collaboration
Elise Sandås Sand
1 collaboration
Berit Woldseth
1 collaboration
Katja Benedikte Prestø Elgstøen
1 collaboration
David A Dyment
1 collaboration
Paulien A Terhal
1 collaboration
Christopher Griffith
1 collaboration
Parul Jayakar
1 collaboration
Marwan Shinawi
1 collaboration
Sara Ellingwood
1 collaboration
Rosemarie Smith
1 collaboration
Koen van Gassen
1 collaboration
Kirsty McWalter
1 collaboration
A Micheil Innes
1 collaboration
Matthew A Lines
1 collaboration
Panagiotis Baliakas
1 collaboration
Bianca Tesi
1 collaboration
Ulla Wartiovaara-Kautto
1 collaboration
Asbjørg Stray-Pedersen
1 collaboration
Lone Smidstrup Friis
1 collaboration
Ingunn Dybedal
1 collaboration
Randi Hovland
1 collaboration
Kirsi Jahnukainen
1 collaboration
Klas Raaschou-Jensen
1 collaboration
Per Ljungman
1 collaboration
Charlotte K Lautrup
1 collaboration
Outi Kilpivaara
1 collaboration
Astrid Olsnes Kittang
1 collaboration
Kirsten Grønbæk
1 collaboration
Jörg Cammenga
1 collaboration
Eva Hellström-Lindberg
1 collaboration
Mette K Andersen
1 collaboration