1. Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant. (21st July 2015) Authors: Harel, Tamar; Posey, Jennifer E.; Graham, Brett H.; Walkiewicz, Magdalena; Yang, Yaping; Lalani, Seema R.; Belmont, John W. Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2742 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. (October 2018) Authors: Johnston, Jennifer; van der Smagt, Jasper; Rosenfeld, Jill; Pagnamenta, Alistair; Alswaid, Abdulrahman; Baker, Eva; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David; van Gassen, Koen; Gulsuner, Suleyman; Harr, Margaret; Jain, Mahim; Kue... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Issue 3 (25th December 2018) Authors: Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al‐Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; W... Journal: Human mutation Issue: Volume 40:Issue 3(2019) Page Start: 267 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. Issue 10 (16th August 2017) Authors: Leduc, Magalie S.; Chao, Hsiao‐Tuan; Qu, Chunjing; Walkiewicz, Magdalena; Xiao, Rui; Magoulas, Pilar; Pan, Shujuan; Beuten, Joke; He, Weimin; Bernstein, Jonathan A.; Schaaf, Christian P.; Scaglia, Fernando; Eng, Christine M.; Yang, Yaping Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2680 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cover Image, Volume 40, Issue 3. Issue 3 (10th February 2019) Authors: Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al‐Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; W... Journal: Human mutation Issue: Volume 40:Issue 3(2019) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype. Issue 12 (23rd September 2017) Authors: Chen, Li; Jensik, Philip J.; Alaimo, Joseph T.; Walkiewicz, Magdalena; Berger, Seth; Roeder, Elizabeth; Faqeih, Eissa A.; Bernstein, Jonathan A.; Smith, Ann C. M.; Mullegama, Sureni V.; Saffen, David W.; Elsea, Sarah H. Journal: Human mutation Issue: Volume 38:Issue 12(2017) Page Start: 1774 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Methionyl-tRNA Formyltransferase (MTFMT) Deficiency Mimicking Acquired Demyelinating Disease. (February 2016) Authors: Pena, Joaquin A.; Lotze, Timothy; Yang, Yaping; Umana, Luis; Walkiewicz, Magdalena; Hunter, Jill V.; Scaglia, Fernando Journal: Journal of child neurology Issue: Volume 31:Number 2(2016:Feb.) Page Start: 215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing. Issue 3 (March 2015) Authors: Yang, Yaping; Muzny, Donna M.; Xia, Fan; Niu, Zhiyv; Person, Richard; Ding, Yan; Ward, Patricia; Braxton, Alicia; Wang, Min; Buhay, Christian; Veeraraghavan, Narayanan; Hawes, Alicia; Chiang, Theodore; Leduc, Magalie; Beuten, Joke; Zhang, Jing; He, Weimin; Scull, Jennifer; Willis, Alecia; Landsve... Journal: Obstetrical & gynecological survey Issue: Volume 70:Issue 3(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. POGZ truncating alleles cause syndromic intellectual disability. Issue 1 (December 2016) Authors: White, Janson; Beck, Christine; Harel, Tamar; Posey, Jennifer; Jhangiani, Shalini; Tang, Sha; Farwell, Kelly; Powis, Zöe; Mendelsohn, Nancy; Baker, Janice; Pollack, Lynda; Mason, Kati; Wierenga, Klaas; Arrington, Daniel; Hall, Melissa; Psychogios, Apostolos; Fairbrother, Laura; Walkiewicz, Magdal... Journal: Genome medicine Issue: Volume 8:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features. (5th July 2016) Authors: Balestrini, Simona; Milh, Mathieu; Castiglioni, Claudia; Lüthy, Kevin; Finelli, Mattea J.; Verstreken, Patrik; Cardon, Aaron; Stražišar, Barbara Gnidovec; Holder, J. Lloyd; Lesca, Gaetan; Mancardi, Maria M.; Poulat, Anne L.; Repetto, Gabriela M.; Banka, Siddharth; Bilo, Leonilda; Birkeland, Laura... Journal: Neurology Issue: Volume 87:Number 1(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗