Accueil
Jenny Blechingberg
Jenny Blechingberg
Affiliations
Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark.
ORCID: https://orcid.org/0000-0002-4110-7459
Publications (7)
A novel homozygous variant in
JIMD reports
Avec:
Morten Alstrup
,
Ida Vogel
,
Puk Sandager
,
Jenny Blechingberg
,
Naja Becher
,
Elsebet Østergaard
Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark.
JAMA dermatology
Avec:
Laura Krogh Herlin
,
Sigrun A J Schmidt
,
Xenia Buus Hermann
,
Kirsten Rønholt
,
Anette Bygum
,
Annette Schuster
,
Ulrikke Lei
,
Mette Mogensen
,
Gabrielle R Vinding
,
Malene Djursby
,
Hanne Hove
,
Jenny Blechingberg
,
Lise Graversen
,
Trine H Mogensen
,
Hans Gjørup
,
Sinéad M Langan
,
Mette Sommerlund
Hypohidrotic Ectodermal Dysplasia caused by an intragenic duplication in EDAR.
European journal of medical genetics
Avec:
Lise Graversen
,
Mette Sommerlund
,
Casper Kruse
,
Hans Gjørup
,
Pernille Axel Gregersen
,
Uffe Birk Jensen
,
Jenny Blechingberg
Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.
Pediatric dermatology
Avec:
Laura Krogh Herlin
,
Morten Krogh Herlin
,
Hanne Vinter
,
Jenny Blechingberg
,
Brian Nauheimer Andersen
,
Casper Kruse
,
Mette Sommerlund
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
European journal of medical genetics
Avec:
Laura Krogh Herlin
,
Morten Krogh Herlin
,
Jenny Blechingberg
,
Kirsten Marthine Rønholt Stausholm
,
Lise Graversen
,
Sigrún Alba Jóhannesdóttir Schmidt
,
Mette Warming Jørgensen
,
Michel Bach Hellfritzsch
,
Jannie Dahl Hald
,
Signe Sparre Beck-Nielsen
,
Hans Gjørup
,
Brian Nauheimer Andersen
,
Pernille Axél Gregersen
,
Mette Sommerlund
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
NPJ genomic medicine
Avec:
Jil D Stegmann
,
Jeshurun C Kalanithy
,
Gabriel C Dworschak
,
Nina Ishorst
,
Enrico Mingardo
,
Filipa M Lopes
,
Yee Mang Ho
,
Phillip Grote
,
Tobias T Lindenberg
,
Öznur Yilmaz
,
Khadija Channab
,
Steve Seltzsam
,
Shirlee Shril
,
Friedhelm Hildebrandt
,
Felix Boschann
,
André Heinen
,
Angad Jolly
,
Katherine Myers
,
Kim McBride
,
Mir Reza Bekheirnia
,
Nasim Bekheirnia
,
Marcello Scala
,
Manuela Morleo
,
Vincenzo Nigro
,
Annalaura Torella
,
Auteur inconnu
,
Michele Pinelli
,
Valeria Capra
,
Andrea Accogli
,
Silvia Maitz
,
Alice Spano
,
Rory J Olson
,
Eric W Klee
,
Brendan C Lanpher
,
Se Song Jang
,
Jong-Hee Chae
,
Philipp Steinbauer
,
Dietmar Rieder
,
Andreas R Janecke
,
Julia Vodopiutz
,
Ida Vogel
,
Jenny Blechingberg
,
Jennifer L Cohen
,
Kacie Riley
,
Victoria Klee
,
Laurence E Walsh
,
Matthias Begemann
,
Miriam Elbracht
,
Thomas Eggermann
,
Arzu Stoppe
,
Kyra Stuurman
,
Marjon van Slegtenhorst
,
Tahsin Stefan Barakat
,
Maureen S Mulhern
,
Tristan T Sands
,
Cheryl Cytrynbaum
,
Rosanna Weksberg
,
Federica Isidori
,
Tommaso Pippucci
,
Giulia Severi
,
Francesca Montanari
,
Michael C Kruer
,
Somayeh Bakhtiari
,
Hossein Darvish
,
Heiko Reutter
,
Gregor Hagelueken
,
Matthias Geyer
,
Adrian S Woolf
,
Jennifer E Posey
,
James R Lupski
,
Benjamin Odermatt
,
Alina C Hilger
CRISPR activation to characterize splice-altering variants in easily accessible cells.
American journal of human genetics
Avec:
Thorkild Terkelsen
,
Nanna Steengaard Mikkelsen
,
Ebbe Norskov Bak
,
Johan Vad-Nielsen
,
Jenny Blechingberg
,
Simone Weiss
,
Simon Opstrup Drue
,
Henning Andersen
,
Brage Storstein Andresen
,
Rasmus O Bak
,
Uffe Birk Jensen
Réseau de co-auteurs
Mette Sommerlund
4 collaborations
Laura Krogh Herlin
3 collaborations
Lise Graversen
3 collaborations
Hans Gjørup
3 collaborations
Ida Vogel
2 collaborations
Casper Kruse
2 collaborations
Uffe Birk Jensen
2 collaborations
Morten Krogh Herlin
2 collaborations
Brian Nauheimer Andersen
2 collaborations
Morten Alstrup
1 collaboration
Puk Sandager
1 collaboration
Naja Becher
1 collaboration
Elsebet Østergaard
1 collaboration
Sigrun A J Schmidt
1 collaboration
Xenia Buus Hermann
1 collaboration
Kirsten Rønholt
1 collaboration
Anette Bygum
1 collaboration
Annette Schuster
1 collaboration
Ulrikke Lei
1 collaboration
Mette Mogensen
1 collaboration
Gabrielle R Vinding
1 collaboration
Malene Djursby
1 collaboration
Hanne Hove
1 collaboration
Trine H Mogensen
1 collaboration
Sinéad M Langan
1 collaboration
Pernille Axel Gregersen
1 collaboration
Hanne Vinter
1 collaboration
Kirsten Marthine Rønholt Stausholm
1 collaboration
Sigrún Alba Jóhannesdóttir Schmidt
1 collaboration
Mette Warming Jørgensen
1 collaboration
Michel Bach Hellfritzsch
1 collaboration
Jannie Dahl Hald
1 collaboration
Signe Sparre Beck-Nielsen
1 collaboration
Pernille Axél Gregersen
1 collaboration
Jil D Stegmann
1 collaboration
Jeshurun C Kalanithy
1 collaboration
Gabriel C Dworschak
1 collaboration
Nina Ishorst
1 collaboration
Enrico Mingardo
1 collaboration
Filipa M Lopes
1 collaboration
Yee Mang Ho
1 collaboration
Phillip Grote
1 collaboration
Tobias T Lindenberg
1 collaboration
Öznur Yilmaz
1 collaboration
Khadija Channab
1 collaboration
Steve Seltzsam
1 collaboration
Shirlee Shril
1 collaboration
Friedhelm Hildebrandt
1 collaboration
Felix Boschann
1 collaboration
André Heinen
1 collaboration
Angad Jolly
1 collaboration
Katherine Myers
1 collaboration
Kim McBride
1 collaboration
Mir Reza Bekheirnia
1 collaboration
Nasim Bekheirnia
1 collaboration
Marcello Scala
1 collaboration
Manuela Morleo
1 collaboration
Vincenzo Nigro
1 collaboration
Annalaura Torella
1 collaboration
None None
1 collaboration
Michele Pinelli
1 collaboration
Valeria Capra
1 collaboration
Andrea Accogli
1 collaboration
Silvia Maitz
1 collaboration
Alice Spano
1 collaboration
Rory J Olson
1 collaboration
Eric W Klee
1 collaboration
Brendan C Lanpher
1 collaboration
Se Song Jang
1 collaboration
Jong-Hee Chae
1 collaboration
Philipp Steinbauer
1 collaboration
Dietmar Rieder
1 collaboration
Andreas R Janecke
1 collaboration
Julia Vodopiutz
1 collaboration
Jennifer L Cohen
1 collaboration
Kacie Riley
1 collaboration
Victoria Klee
1 collaboration
Laurence E Walsh
1 collaboration
Matthias Begemann
1 collaboration
Miriam Elbracht
1 collaboration
Thomas Eggermann
1 collaboration
Arzu Stoppe
1 collaboration
Kyra Stuurman
1 collaboration
Marjon van Slegtenhorst
1 collaboration
Tahsin Stefan Barakat
1 collaboration
Maureen S Mulhern
1 collaboration
Tristan T Sands
1 collaboration
Cheryl Cytrynbaum
1 collaboration
Rosanna Weksberg
1 collaboration
Federica Isidori
1 collaboration
Tommaso Pippucci
1 collaboration
Giulia Severi
1 collaboration
Francesca Montanari
1 collaboration
Michael C Kruer
1 collaboration
Somayeh Bakhtiari
1 collaboration
Hossein Darvish
1 collaboration
Heiko Reutter
1 collaboration
Gregor Hagelueken
1 collaboration
Matthias Geyer
1 collaboration
Adrian S Woolf
1 collaboration
Jennifer E Posey
1 collaboration
James R Lupski
1 collaboration
Benjamin Odermatt
1 collaboration
Alina C Hilger
1 collaboration
Thorkild Terkelsen
1 collaboration
Nanna Steengaard Mikkelsen
1 collaboration
Ebbe Norskov Bak
1 collaboration
Johan Vad-Nielsen
1 collaboration
Simone Weiss
1 collaboration
Simon Opstrup Drue
1 collaboration
Henning Andersen
1 collaboration
Brage Storstein Andresen
1 collaboration
Rasmus O Bak
1 collaboration