1. A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome. Issue 2 (1st February 2000) Authors: Tentler, Dmitry; Gustavsson, Peter; Elinder, Göran; Eklöf, Ole; Gordon, Laurie; Mandel, Ariane; Dahl, Niklas Journal: Journal of medical genetics Issue: Volume 37:Issue 2(2000) Page Start: 128 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. Issue 1 (7th November 2013) Authors: Lindstrand, Anna; Grigelioniene, Giedre; Nilsson, Daniel; Pettersson, Maria; Hofmeister, Wolfgang; Anderlid, Britt-Marie; Kant, Sarina G.; Ruivenkamp, Claudia A L; Gustavsson, Peter; Valta, Helena; Geiberger, Stefan; Topa, Alexandra; Lagerstedt-Robinson, Kristina; Taylan, Fulya; Wincent, Josephin... Journal: Journal of medical genetics Issue: Volume 51:Issue 1(2014) Page Start: 45 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Is LMNB1 a susceptibility gene for neural tube defects in humans?. Issue 6 (3rd June 2013) Authors: Robinson, Alexis; Partridge, Darren; Malhas, Ashraf; De, Sandra C.P.; Gustavsson, Peter; Thompson, Dominic N.; Vaux, David J.; Copp, Andrew J.; Stanier, Philip; Bassuk, Alexander G.; Greene, Nicholas D.E. Journal: Birth defects research Issue: Volume 97:Issue 6(2013:Jun.) Page Start: 398 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Knowledge and Attitudes Regarding Non‐Invasive Prenatal Testing (NIPT) and Preferences for Risk Information among High School Students in Sweden. Issue 3 (2nd August 2016) Authors: Georgsson, Susanne; Sahlin, Ellika; Iwarsson, Moa; Nordenskjöld, Magnus; Gustavsson, Peter; Iwarsson, Erik Journal: Journal of genetic counseling Issue: Volume 26:Issue 3(2017) Page Start: 447 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice. (4th September 2018) Authors: De Castro, Sandra C P; Gustavsson, Peter; Marshall, Abigail R; Gordon, William M; Galea, Gabriel; Nikolopoulou, Evanthia; Savery, Dawn; Rolo, Ana; Stanier, Philip; Andersen, Bogi; Copp, Andrew J; Greene, Nicholas D E Journal: Human molecular genetics Issue: Volume 27:Number 24(2018:Dec. 15) Page Start: 4218 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Partial tetrasomy 14 associated with multiple malformations. Issue 6 (23rd April 2013) Authors: Winberg, Johanna; Lagerstedt Robinson, Kristina; Naess, Karin; Lesko, Nicole; Wibom, Rolf; Liedén, Agne; Anderlid, Britt‐Marie; Graff, Caroline; Nordenskjöld, Agneta; Nordgren, Ann; Gustavsson, Peter Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations. Issue 2 (14th December 2019) Authors: Winberg, Johanna; Gustavsson, Peter; Sahlin, Ellika; Larsson, Magnus; Ehrén, Henrik; Fossum, Magdalena; Wester, Tomas; Nordgren, Ann; Nordenskjöld, Agneta Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 2(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation. Issue 2 (5th December 2016) Authors: Nilsson, Daniel; Pettersson, Maria; Gustavsson, Peter; Förster, Alisa; Hofmeister, Wolfgang; Wincent, Josephine; Zachariadis, Vasilios; Anderlid, Britt‐Marie; Nordgren, Ann; Mäkitie, Outi; Wirta, Valtteri; Käller, Max; Vezzi, Francesco; Lupski, James R; Nordenskjöld, Magnus; Syk Lundberg, Elisabe... Journal: Human mutation Issue: Volume 38:Issue 2(2017) Page Start: 180 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗