1. A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. (17th October 2017) Authors: Wilbe, Maria; Gudmundsson, Sanna; Johansson, Josefin; Ameur, Adam; Stattin, Eva‐Lena; Annerén, Göran; Malmgren, Helena; Frykholm, Carina; Bondeson, Marie‐Louise Journal: Prenatal diagnosis Issue: Volume 37:Number 11(2017) Page Start: 1146 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants. Issue 4 (4th February 2022) Authors: Frisk, Sofia; Wachtmeister, Alexandra; Laurell, Tobias; Lindstrand, Anna; Jäntti, Nina; Malmgren, Helena; Lagerstedt‐Robinson, Kristina; Tesi, Bianca; Taylan, Fulya; Nordgren, Ann Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 4(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the ataxia with oculomotor apraxia type 4 phenotype. (February 2016) Authors: Paucar, Martin; Malmgren, Helena; Taylor, Malcolm; Reynolds, John J.; Svenningsson, Per; Press, Rayomand; Nordgren, Ann Journal: Neurology Issue: Volume 2:Number 1(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Front Cover. Issue 6 (14th November 2018) Authors: Kvarnung, Malin; Taylan, Fulya; Nilsson, Daniel; Anderlid, Britt‐Marie; Malmgren, Helena; Lagerstedt‐Robinson, Kristina; Holmberg, Eva; Burstedt, Magnus; Nordenskjöld, Magnus; Nordgren, Ann; Lundberg, Elisabeth S. Journal: Clinical genetics Issue: Volume 94:Issue 6(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability. Issue 6 (15th October 2018) Authors: Kvarnung, Malin; Taylan, Fulya; Nilsson, Daniel; Anderlid, Britt‐Marie; Malmgren, Helena; Lagerstedt‐Robinson, Kristina; Holmberg, Eva; Burstedt, Magnus; Nordenskjöld, Magnus; Nordgren, Ann; Lundberg, Elisabeth S. Journal: Clinical genetics Issue: Volume 94:Issue 6(2018) Page Start: 528 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Meiotic segregation analyses of reciprocal translocations in spermatozoa and embryos: no support for predictive value regarding PGD outcome. Issue 6 (June 2017) Authors: Haapaniemi Kouru, Katarina; Malmgren, Helena; White, Irene; Rodriguez Sanchez, Ana; Syk Lundberg, Elisabeth Journal: Reproductive biomedicine online Issue: Volume 34:Issue 6(2017) Page Start: 645 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. Paroxysmal Kinesigenic Dyskinesia. (12th December 2017) Authors: Paucar, Martin; Malmgren, Helena; Svenningsson, Per Editors: Louis, Elan D. Journal: Tremor and other hyperkinetic movements Issue: Volume 7(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu. Issue 1 (30th September 2015) Authors: Hammarsjö, Anna; Nordgren, Ann; Lagerstedt‐Robinson, Kristina; Malmgren, Helena; Nilsson, Daniel; Wedrén, Sara; Nordenskjöld, Magnus; Nishimura, Gen; Grigelioniene, Giedre Journal: American journal of medical genetics Issue: Volume 170:Issue 1(2016) Page Start: 266 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Small mosaic deletion encompassing the snoRNAs and SNURF‐SNRPN results in an atypical Prader–Willi syndrome phenotype. Issue 2 (5th December 2013) Authors: Anderlid, Britt‐Marie; Lundin, Johanna; Malmgren, Helena; Lehtihet, Mikael; Nordgren, Ann Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 425 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗