Search

Author/Creator Eisfeldt, Jesper

1. A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B). (24th February 2017)

Authors:
Grigelioniene, Giedre; Nevalainen, Pasi I; Reyes, Monica; Thiele, Susanne; Tafaj, Olta; Molinaro, Angelo; Takatani, Rieko; Ala‐Houhala, Marja; Nilsson, Daniel; Eisfeldt, Jesper; Lindstrand, Anna; Kottler, Marie‐Laure; Mäkitie, Outi; Jüppner, Harald
Journal:
Journal of bone and mineral research
Issue:
Volume 32:Number 4(2017:Apr.)
Page Start:
776
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Issue 10 (22nd August 2018)

Authors:
Pettersson, Maria; Vaz, Raquel; Hammarsjö, Anna; Eisfeldt, Jesper; Carvalho, Claudia M.B.; Hofmeister, Wolfgang; Tham, Emma; Horemuzova, Eva; Voss, Ulrika; Nishimura, Gen; Klintberg, Bo; Nordgren, Ann; Nilsson, Daniel; Grigelioniene, Giedre; Lindstrand, Anna
Journal:
Human mutation
Issue:
Volume 39:Issue 10(2018)
Page Start:
1456
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Issue 11 (1st October 2020)

Authors:
Pettersson, Maria; Grochowski, Christopher M.; Wincent, Josephine; Eisfeldt, Jesper; Breman, Amy M.; Cheung, Sau W.; Krepischi, Ana C. V.; Rosenberg, Carla; Lupski, James R.; Ottosson, Jesper; Lovmar, Lovisa; Gacic, Jelena; Lundberg, Elisabeth S.; Nilsson, Daniel; Carvalho, Claudia M. B.; Lindstr...
Journal:
Human mutation
Issue:
Volume 41:Issue 11(2020)
Page Start:
1979
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation. Issue 11 (23rd July 2022)

Authors:
Eisfeldt, Jesper; Rezayee, Fatemah; Pettersson, Maria; Lagerstedt, Kristina; Malmgren, Helena; Falk, Anna; Grigelioniene, Giedre; Lindstrand, Anna
Other Names:
Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 11(2022)
Page Start:
1567
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Issue 12 (13th October 2020)

Authors:
Zhang, Chaofan; Mazzeu, Juliana F.; Eisfeldt, Jesper; Grochowski, Christopher M.; White, Janson; Akdemir, Zeynep C.; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Lindstrand, Anna; Lupski, James R.; Sutton, V. Reid; Carvalho, Claudia M. B.
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 12(2021)
Page Start:
3593
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish. Issue 4 (11th January 2018)

Authors:
Hofmeister, Wolfgang; Pettersson, Maria; Kurtoglu, Deniz; Armenio, Miriam; Eisfeldt, Jesper; Papadogiannakis, Nikos; Gustavsson, Peter; Lindstrand, Anna
Journal:
Human mutation
Issue:
Volume 39:Issue 4(2018)
Page Start:
495
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. Issue 5 (3rd March 2020)

Authors:
Plesser Duvdevani, Morasha; Pettersson, Maria; Eisfeldt, Jesper; Avraham, Ortal; Dagan, Judith; Frumkin, Ayala; Lupski, James R.; Lindstrand, Anna; Harel, Tamar
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 5(2020)
Page Start:
1143
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗