1. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022) Authors: Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill V.; Sutton, V. Reid; E... Journal: Annals of neurology Issue: Volume 92:Issue 2(2022) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Central 22q11.2 deletions. Issue 11 (14th August 2014) Authors: Rump, Patrick; de Leeuw, Nicole; van Essen, Anthonie J.; Verschuuren‐Bemelmans, Corien C.; Veenstra‐Knol, Hermine E.; Swinkels, Mariëlle E.M.; Oostdijk, Wilma; Ruivenkamp, Claudia; Reardon, Willie; de Munnik, Sonja; Ruiter, Mariken; Frumkin, Ayala; Lev, Dorit; Evers, Christina; Sikkema‐Raddatz, B... Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2707 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. (26th May 2021) Authors: Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; L... Journal: Epilepsia Issue: Volume 62:issue 7(2021) Page Start: e103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome. Issue 4 (20th February 2018) Authors: Menke, Leonie A.; Gardeitchik, Thatjana; Hammond, Peter; Heimdal, Ketil R.; Houge, Gunnar; Hufnagel, Sophia B.; Ji, Jianling; Johansson, Stefan; Kant, Sarina G.; Kinning, Esther; Leon, Eyby L.; Newbury‐Ecob, Ruth; Paolacci, Stefano; Pfundt, Rolph; Ragge, Nicola K.; Rinne, Tuula; Ruivenkamp, Claud... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 862 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Further delineation of phenotypic spectrum of SCN2A‐related disorder. Issue 3 (11th December 2021) Authors: Richardson, Ruth; Baralle, Diana; Bennett, Christopher; Briggs, Tracy; Bijlsma, Emilia K.; Clayton‐Smith, Jill; Constantinou, Panayiotis; Foulds, Nicola; Jarvis, Joanna; Jewell, Rosalyn; Johnson, Diana S.; McEntagart, Meriel; Parker, Michael J.; Radley, Jessica A.; Robertson, Lisa; Ruivenkamp, Cl... Journal: American journal of medical genetics Issue: Volume 188:Issue 3(2022) Page Start: 867 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Heterozygous variants in SPTBN1 cause intellectual disability and autism. Issue 7 (13th April 2021) Authors: Rosenfeld, Jill A.; Xiao, Rui; Bekheirnia, Mir Reza; Kanani, Farah; Parker, Michael J.; Koenig, Mary K.; van Haeringen, Arie; Ruivenkamp, Claudia; Rosmaninho‐Salgado, Joana; Almeida, Pedro M.; Sá, Joaquim; Pinto Basto, Jorge; Palen, Emily; Oetjens, Kathryn F.; Burrage, Lindsay C.; Xia, Fan; Liu, ... Journal: American journal of medical genetics Issue: Volume 185:Issue 7(2021) Page Start: 2037 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. Issue 23 (10th July 2021) Authors: Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B S; Lerche, Holger; Lemke, Johannes R; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E; Rehm, Heidi L; Mc... Journal: Human molecular genetics Issue: Volume 30:Issue 23(2021) Page Start: 2300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature123. Issue 4 (26th March 2013) Authors: Béna, Frédérique; Bruno, Damien L.; Eriksson, Mats; van Ravenswaaij‐Arts, Conny; Stark, Zornitza; Dijkhuizen, Trijnie; Gerkes, Erica; Gimelli, Stefania; Ganesamoorthy, Devika; Thuresson, Ann Charlotte; Labalme, Audrey; Till, Marianne; Bilan, Frédéric; Pasquier, Laurent; Kitzis, Alain; Dubourgm, C... Journal: American journal of medical genetics Issue: Volume 162:Issue 4(2013) Page Start: 388 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (15th December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗