1. Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. Issue 1 (30th September 2013) Authors: Baris, Hagit N.; Chan, Wai‐Man; Andrews, Caroline; Behar, Doron M.; Donovan, Diana J.; Morton, Cynthia C.; Ranells, Judith; Pal, Tuya; Ligon, Azra H.; Engle, Elizabeth C. Journal: Clinical case reports Issue: Volume 1:Issue 1(2013:Oct.) Page Start: 30 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover Image, Volume 39, Issue 1. Issue 1 (7th December 2017) Authors: Marsh, Ashley P. L.; Edwards, Timothy J.; Galea, Charles; Cooper, Helen M.; Engle, Elizabeth C.; Jamuar, Saumya S.; Méneret, Aurélie; Moutard, Marie‐Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer‐Smith, Megan; Trouillard, Oriane; Billette de Villeme... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Issue 1 (11th November 2017) Authors: Marsh, Ashley P. L.; Edwards, Timothy J.; Galea, Charles; Cooper, Helen M.; Engle, Elizabeth C.; Jamuar, Saumya S.; Méneret, Aurélie; Moutard, Marie‐Laure; Nava, Caroline; Rastetter, Agnès; Robinson, Gail; Rouleau, Guy; Roze, Emmanuel; Spencer‐Smith, Megan; Trouillard, Oriane; Billette de Villeme... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 23 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. Issue 4 (19th January 2021) Authors: Lehky, Tanya; Joseph, Reversa; Toro, Camilo; Wu, Tianxia; Van Ryzin, Carol; Gropman, Andrea; Facio, Flavia M.; Webb, Bryn D.; Jabs, Ethylin W.; Barry, Brenda S.; Engle, Elizabeth C.; Collins, Francis S.; Manoli, Irini Journal: Muscle & nerve Issue: Volume 63:Issue 4(2021) Page Start: 516 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome. Issue 10 (4th August 2017) Authors: Telegrafi, Aida; Webb, Bryn D.; Robbins, Sarah M.; Speck‐Martins, Carlos E.; FitzPatrick, David; Fleming, Leah; Redett, Richard; Dufke, Andreas; Houge, Gunnar; van Harssel, Jeske J. T.; Verloes, Alain; Robles, Angela; Manoli, Irini; Engle, Elizabeth C.; Jabs, Ethylin W.; Valle, David; Carey, John... Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2763 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Menkes disease in affected females: The clinical disease spectrum. (26th November 2014) Authors: Smpokou, Patroula; Samanta, Monisha; Berry, Gerard T.; Hecht, Leah; Engle, Elizabeth C.; Lichter‐Konecki, Uta Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Issue 5 (16th February 2016) Authors: Brownstein, Catherine A.; Kleiman, Robin J.; Engle, Elizabeth C.; Towne, Meghan C.; D'Angelo, Eugene J.; Yu, Timothy W.; Beggs, Alan H.; Picker, Jonathan; Fogler, Jason M.; Carroll, Devon; Schmitt, Rachel C. O.; Wolff, Robert R.; Shen, Yiping; Lip, Va; Bilguvar, Kaya; Kim, April; Tembulkar, Sahil... Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1165 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Phenotype delineation of ZNF462 related syndrome. Issue 10 (30th July 2019) Authors: Kruszka, Paul; Hu, Tommy; Hong, Sungkook; Signer, Rebecca; Cogné, Benjamin; Isidor, Betrand; Mazzola, Sarah E.; Giltay, Jacques C.; van Gassen, Koen L. I.; England, Eleina M.; Pais, Lynn; Ockeloen, Charlotte W.; Sanchez‐Lara, Pedro A.; Kinning, Esther; Adams, Darius J.; Treat, Kayla; Torres‐Marti... Journal: American journal of medical genetics Issue: Volume 179:Issue 10(2019) Page Start: 2075 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Issue 4 (3rd February 2022) Authors: Natera‐de Benito, Daniel; Jurgens, Julie A.; Yeung, Alison; Zaharieva, Irina T.; Manzur, Adnan; DiTroia, Stephanie P.; Di Gioia, Silvio Alessandro; Pais, Lynn; Pini, Veronica; Barry, Brenda J.; Chan, Wai‐Man; Elder, James E.; Christodoulou, John; Hay, Eleanor; England, Eleina M.; Munot, Pinki; Hu... Journal: Human mutation Issue: Volume 43:Issue 4(2022) Page Start: 487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2. (2nd April 2016) Authors: Khan, Arif O.; Almutlaq, Mohammed; Oystreck, Darren T.; Engle, Elizabeth C.; Abu-Amero, Khaled; Bosley, Thomas Journal: Ophthalmic genetics Issue: Volume 37:Number 2(2016) Page Start: 130 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗