1. A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships. Issue 6 (1st March 2022) Authors: Taylor, Julie P.; Malhotra, Alka; Burns, Nicole J.; Clause, Amanda R.; Brown, Carolyn M.; Burns, Brendan T.; Chandrasekhar, Anjana; Schlachetzki, Zinayida; Bennett, Maren; Thorpe, Erin; Taft, Ryan J.; Perry, Denise L.; Coffey, Alison J. Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 765 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis. (September 2018) Authors: Conant, Alexander; Curiel, Julian; Pizzino, Amy; Sabetrasekh, Parisa; Murphy, Jennifer; Bloom, Miriam; Evans, Sarah H.; Helman, Guy; Taft, Ryan J.; Simons, Cas; Whitehead, Matthew T.; Moore, Steven A.; Vanderver, Adeline Journal: Journal of child neurology Issue: Volume 33:Number 10(2018:Oct.) Page Start: 642 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2). Issue 7 (1st May 2021) Authors: Rosano, Kristen K.; Wegner, Daniel J.; Shinawi, Marwan; Baldridge, Dustin; Bucelli, Robert C.; Dahiya, Sonika; White, Frances V.; Willing, Marcia C.; McAllister, William; Taft, Ryan J.; Bluske, Krista; Buchanan, Amanda; Cole, Francis Sessions; Wambach, Jennifer A. Journal: American journal of medical genetics Issue: Volume 185:Issue 7(2021) Page Start: 2190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. (12th March 2019) Authors: van der Knaap, Marjo S.; Bugiani, Marianna; Mendes, Marisa I.; Riley, Lisa G.; Smith, Desiree E.C.; Rudinger-Thirion, Joëlle; Frugier, Magali; Breur, Marjolein; Crawford, Joanna; van Gaalen, Judith; Schouten, Meyke; Willems, Marjolaine; Waisfisz, Quinten; Mau-Them, Frederic Tran; Rodenburg, Richa... Journal: Neurology Issue: Volume 92:Number 11(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). Issue 4 (25th March 2018) Authors: Hirabayashi, Kristin E.; Moore, Anthony T.; Mendelsohn, Bryce A.; Taft, Ryan J.; Chawla, Aditi; Perry, Denise; Henry, Duncan; Slavotinek, Anne Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 997 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. (15th March 2022) Authors: Dohrn, Maike F.; Rebelo, Adriana P.; Srivastava, Siddharth; Cappuccio, Gerarda; Smigiel, Robert; Malhotra, Alka; Basel, Donald; van de Laar, Ingrid; Neuteboom, Rinze Frederik; Aarts-Tesselaar, Coranne; Mahida, Sonal; Brunetti-Pierri, Nicola; Taft, Ryan J.; Züchner, Stephan Journal: Neurology Issue: Volume 98:Number 11(2022) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. (15th March 2022) Authors: Dohrn, Maike F.; Rebelo, Adriana P.; Srivastava, Siddharth; Cappuccio, Gerarda; Smigiel, Robert; Malhotra, Alka; Basel, Donald; van de Laar, Ingrid; Neuteboom, Rinze Frederik; Aarts-Tesselaar, Coranne; Mahida, Sonal; Brunetti-Pierri, Nicola; Taft, Ryan J.; Züchner, Stephan Journal: Neurology Issue: Volume 98:Number 11(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome. Issue 10 (27th June 2016) Authors: Crawford, Joanna; Bower, Neil I.; Hogan, Benjamin M.; Taft, Ryan J.; Gabbett, Michael T.; McGaughran, Julie; Simons, Cas Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2694 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genome sequencing in persistently unsolved white matter disorders. Issue 1 (7th January 2020) Authors: Helman, Guy; Lajoie, Bryan R.; Crawford, Joanna; Takanohashi, Asako; Walkiewicz, Marzena; Dolzhenko, Egor; Gross, Andrew M.; Gainullin, Vladimir G.; Bent, Stephen J.; Jenkinson, Emma M.; Ferdinandusse, Sacha; Waterham, Hans R.; Dorboz, Imen; Bertini, Enrico; Miyake, Noriko; Wolf, Nicole I.; Abbin... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 1(2020) Page Start: 144 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy. Issue 5 (20th August 2022) Authors: Helman, Guy; Zarekiani, Parand; Tromp, Samantha A.M.; Andrews, Ashley; Botto, Lorenzo D.; Bonkowsky, Joshua L.; Chassevent, Anna; Giorgio, Elisa; Pippucci, Tommaso; Wei, Shen; Smith‐Hicks, Constance; Vaula, Giovanna; Willemsen, Michèl A.A.P; Schimmel, Mareike; Vollert, Kurt; Shimizu, Fumitaka; Ka... Journal: Annals of neurology Issue: Volume 92:Issue 5(2022) Page Start: 895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗