1. A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability. Issue 4 (7th November 2019) Authors: Pravata, Veronica M.; Gundogdu, Mehmet; Bartual, Sergio G.; Ferenbach, Andrew T.; Stavridis, Marios; Õunap, Katrin; Pajusalu, Sander; Žordania, Riina; Wojcik, Monica H.; van Aalten, Daan M. F. Journal: FEBS letters Issue: Volume 594:Issue 4(2020) Page Start: 717 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. Issue 5 (9th March 2019) Authors: Ridnõi, Konstantin; Šois, Marek; Vaidla, Eve; Pajusalu, Sander; Kelder, Larissa; Reimand, Tiia; Õunap, Katrin Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 5(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A two‐year prospective study assessing the performance of fetal chromosomal microarray analysis and next‐generation sequencing in high‐risk pregnancies. Issue 10 (6th September 2021) Authors: Ridnõi, Konstantin; Muru, Kai; Keernik, Maria; Pajusalu, Sander; Ustav, Eva‐Liina; Tammur, Pille; Mölter‐Väär, Triin; Kahre, Tiina; Šamarina, Ustina; Asser, Karin; Szirko, Ferenc; Reimand, Tiia; Õunap, Katrin Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 10(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Issue 1 (24th October 2020) Authors: Dyment, David A.; O'Donnell‐Luria, Anne; Agrawal, Pankaj B.; Coban Akdemir, Zeynep; Aleck, Kyrieckos A.; Antaki, Danny; Al Sharhan, Hind; Au, Ping‐Yee B.; Aydin, Hatip; Beggs, Alan H.; Bilguvar, Kaya; Boerwinkle, Eric; Brand, Harrison; Brownstein, Catherine A.; Buyske, Steve; Chodirker, Bernard; ... Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature. Issue 8 (22nd July 2016) Authors: Õunap, Katrin; Pajusalu, Sander; Zilina, Olga; Reimand, Tiia; Žordania, Riina Journal: Clinical case reports Issue: Volume 4:Issue 8(2016) Page Start: 824 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy. Issue 8 (2nd June 2016) Authors: Reinson, Karit; Õiglane‐Shlik, Eve; Talvik, Inga; Vaher, Ulvi; Õunapuu, Anne; Ennok, Margus; Teek, Rita; Pajusalu, Sander; Murumets, Ülle; Tomberg, Tiiu; Puusepp, Sanna; Piirsoo, Andres; Reimand, Tiia; Õunap, Katrin Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2173 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related. Issue 10 (22nd June 2022) Authors: Mroczek, Magdalena; Inashkina, Inna; Stavusis, Janis; Zayakin, Pawel; Khrunin, Andrey; Micule, Ieva; Kenina, Victorija; Zdanovica, Anna; Zídková, Jana; Fajkusová, Lenka; Limborska, Svetlana; van der Kooi, Anneke J.; Brusse, Esther; Leonardis, Lea; Maver, Ales; Pajusalu, Sander; Õunap, Katrin; Puu... Journal: Human mutation Issue: Volume 43:Issue 10(2022) Page Start: 1347 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients. Issue 3 (11th February 2019) Authors: Vals, Mari‐Anne; Ashikov, Angel; Ilves, Pilvi; Loorits, Dagmar; Zeng, Qiang; Barone, Rita; Huijben, Karin; Sykut‐Cegielska, Jolanta; Diogo, Luísa; Elias, Abdallah F.; Greenwood, Robert S.; Grunewald, Stephanie; van Hasselt, Peter M.; van de Kamp, Jiddeke M.; Mancini, Grazia; Okninska, Agnieszka; ... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 3(2019) Page Start: 553 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder. Issue 12 (10th August 2022) Authors: Janssen, Beau D. E.; van den Boogaard, Marie‐Jose H.; Lichtenbelt, Klaske; Seaby, Eleanor G.; Stals, Karen; Ellard, Sian; Newbury‐Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Õunap, Katrin; Firth, Helen V.; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, R... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1844 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Diffuse hypomyelination is not obligate for POLR3-related disorders. (26th April 2016) Authors: La Piana, Roberta; Cayami, Ferdy K.; Tran, Luan T.; Guerrero, Kether; van Spaendonk, Rosalina; Õunap, Katrin; Pajusalu, Sander; Haack, Tobias; Wassmer, Evangeline; Timmann, Dagmar; Mierzewska, Hanna; Poll-Thé, Bwee T.; Patel, Chirag; Cox, Helen; Atik, Tahir; Onay, Huseyin; Ozkınay, Ferda; Vanderv... Journal: Neurology Issue: Volume 86:Number 17(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗