1. A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. (8th June 2015) Authors: Smyk, Marta; Roeder, Elizabeth; Cheung, Sau Wai; Szafranski, Przemyslaw; Stankiewicz, Paweł Journal: American journal of medical genetics Issue: Volume 167:Number 8(2015:Aug.) Page Start: 1842 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A patient with a unique frameshift mutation in GPC3, causing Simpson–Golabi–Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle. Issue 12 (2nd October 2013) Authors: Villarreal, Diana D.; Villarreal, Humberto; Paez, Ana Maria; Peppas, Dennis; Lynch, Jane; Roeder, Elizabeth; Powers, George C. Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A patient with a unique frameshift mutation in GPC3, causing Simpson–Golabi–Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle. Issue 12 (2nd October 2013) Authors: Villarreal, Diana D.; Villarreal, Humberto; Paez, Ana Maria; Peppas, Dennis; Lynch, Jane; Roeder, Elizabeth; Powers, George C. Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A patient with a unique frameshift mutation in GPC3, causing Simpson–Golabi–Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle—Am J Med Genet Part A 161A: 3121–3125. Issue 7 (July 2014) Authors: Villarreal, Diana D.; Villarreal, Humberto; Paez, Ana Maria; Peppas, Dennis; Lynch, Jane; Roeder, Elizabeth; Powers, George C. Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1872 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019) Authors: Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr... Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019) Authors: Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr... Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 150 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes. Issue 4 (17th March 2015) Authors: Gil‐Rodríguez, María Concepción; Deardorff, Matthew A.; Ansari, Morad; Tan, Christopher A.; Parenti, Ilaria; Baquero‐Montoya, Carolina; Ousager, Lilian B.; Puisac, Beatriz; Hernández‐Marcos, María; Teresa‐Rodrigo, María Esperanza; Marcos‐Alcalde, Iñigo; Wesselink, Jan‐Jaap; Lusa‐Bernal, Silvia; B... Journal: Human mutation Issue: Volume 36:Issue 4(2015:Apr.) Page Start: 454 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. Gain‐of‐Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. Issue 8 (9th May 2016) Authors: Srour, Myriam; Caron, Véronique; Pearson, Toni; Nielsen, Sarah B.; Lévesque, Sébastien; Delrue, Marie‐Ange; Becker, Troy A.; Hamdan, Fadi F.; Kibar, Zoha; Sattler, Shannon G.; Schneider, Michael C.; Bitoun, Pierre; Chassaing, Nicolas; Rosenfeld, Jill A.; Xia, Fan; Desai, Sonal; Roeder, Elizabeth;... Journal: Human mutation Issue: Volume 37:Issue 8(2016) Page Start: 786 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗