1. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. (January 2018) Authors: Jansen, Sandra; Hoischen, Alexander; Coe, Bradley; Carvill, Gemma; Esch, Hilde; Bosch, Daniëlle; Andersen, Ulla; Baker, Carl; Bauters, Marijke; Bernier, Raphael; Bon, Bregje; Claahsen-van der Grinten, Hedi; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature. Issue 5 (7th February 2023) Authors: Strong, Alanna; Rao, Soumya; von Hardenberg, Sandra; Li, Dong; Cox, Liza L.; Lee, Paul C.; Zhang, Li Q.; Awotoye, Waheed; Diamond, Tamir; Gold, Jessica; Gooch, Catherine; Gowans, Lord Jephthah Joojo; Hakonarson, Hakon; Hing, Anne; Loomes, Kathleen; Martin, Nicole; Marazita, Mary L.; Mononen, Tarj... Journal: American journal of medical genetics Issue: Volume 191:Issue 5(2023) Page Start: 1227 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?. Issue 8 (9th July 2019) Authors: Verhoeven, Willem; Egger, Jos; Kipp, Janneke; Verheul‐ aan de Wiel, Jiska; Ockeloen, Charlotte; Kleefstra, Tjitske; Pfundt, Rolph Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 8(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report. Issue 8 (15th June 2017) Authors: Otter, Maarten; Wevers, Marijke; Pisters, Marline; Pfundt, Rolph; Vos, Yvonne; Nievelstein, Rutger Jan; Stumpel, Constance Journal: Clinical case reports Issue: Volume 5:Issue 8(2017) Page Start: 1213 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability. (30th March 2014) Authors: Zada, Almira; Mundhofir, Farmaditya E. P.; Pfundt, Rolph; Leijsten, Nico; Nillesen, Willy; Faradz, Sultana M. H.; de Leeuw, Nicole Other Names: López Ginés C. Academic Editor.; Perez de Nanclares G. Academic Editor. Journal: Case reports in genetics Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. All‐in‐one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence‐of‐heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1‐year experience. (5th February 2023) Authors: Faas, Brigitte H. W.; Westra, Dineke; de Munnik, Sonja A.; van Rij, Maartje; Marcelis, Carlo; Joosten, Sara; Krapels, Ingrid; Vernimmen, Vivian; Heijligers, Malou; Willemsen, Marjolein H.; de Leeuw, Nicole; Rinne, Tuula; Pfundt, Rolph; Smeekens, Sanne P.; Stegmann, Sander P. A.; Macville, Merryn;... Journal: Prenatal diagnosis Issue: Volume 43:Number 4(2023) Page Start: 527 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Issue 5 (7th February 2020) Authors: Scott, Tiana M.; Guo, Hui; Eichler, Evan E.; Rosenfeld, Jill A.; Pang, Kaifang; Liu, Zhandong; Lalani, Seema; Bi, Weimin; Yang, Yaping; Bacino, Carlos A.; Streff, Haley; Lewis, Andrea M.; Koenig, Mary K.; Thiffault, Isabelle; Bellomo, Allison; Everman, David B.; Jones, Julie R.; Stevenson, Roger ... Journal: Human mutation Issue: Volume 41:Issue 5(2020) Page Start: 921 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome. (20th June 2018) Authors: Van Damme, Tim; Pang, Xiaomeng; Guillemyn, Brecht; Gulberti, Sandrine; Syx, Delfien; De Rycke, Riet; Kaye, Olivier; de Die-Smulders, Christine E M; Pfundt, Rolph; Kariminejad, Ariana; Nampoothiri, Sheela; Pierquin, Geneviève; Bulk, Saskia; Larson, Austin A; Chatfield, Kathryn C; Simon, Marleen; L... Journal: Human molecular genetics Issue: Volume 27:Number 20(2018:Oct. 15) Page Start: 3475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration. Issue 6 (7th September 2022) Authors: Correia‐Costa, Gabriela Roldão; de Leeuw, Nicole; Pfundt, Rolph; Sgardioli, Ilária Cristina; dos Santos, Ana Paula; de Lima Santos, Marilza; Gil‐da‐Silva‐Lopes, Vera Lúcia; Vieira, Társis Paiva Journal: Clinical genetics Issue: Volume 102:Issue 6(2022) Page Start: 537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome. Issue 12 (19th October 2017) Authors: van Amen‐Hellebrekers, Claudia J. M.; Jansen, Sandra; Stegmann, Alexander P. A.; Stevens, Servi J. C.; Pfundt, Rolph; de Vries, Bert B. A. Journal: American journal of medical genetics Issue: Volume 173:Issue 12(2017) Page Start: 3238 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗