1. Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. (September 2018) Authors: Wambach, Jennifer; Wegner, Daniel; Yang, Ping; Shinawi, Marwan; Baldridge, Dustin; Betleja, Ewelina; Shimony, Joshua; Spencer, David; Hackett, Brian; Andrews, Marisa; Ferkol, Thomas; Dutcher, Susan; Mahjoub, Moe; Cole, F. Journal: Pediatric research Issue: Volume 84:Number 3(2018) Page Start: 435 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A mutation in Site‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema. Issue 7 (8th May 2019) Authors: Schweitzer, George G.; Gan, Connie; Bucelli, Robert C.; Wegner, Daniel; Schmidt, Robert E.; Shinawi, Marwan; Finck, Brian N.; Brookheart, Rita T. Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 7(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic. Issue 2 (March 2019) Authors: Groves, Andrew P.; Gettinger, Katie; Druley, Todd E.; Kozel, Beth A.; Shinawi, Marwan; Mohrmann, Caroline; Henry, Jennifer; Jacobi, Celina; Trinkaus, Kathryn; Hayashi, Robert J. Journal: Journal of pediatric hematology/oncology Issue: Volume 41:Issue 2(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. Issue 9 (16th July 2015) Authors: Chung, Wendy K; Martin, Kimberly; Jalas, Chaim; Braddock, Stephen R; Juusola, Jane; Monaghan, Kristin G; Warner, Barbara; Franks, Samuel; Yudkoff, Marc; Lulis, Lauren; Rhodes, Roy H; Prasad, Vinay; Torti, Erin; Cho, Megan T; Shinawi, Marwan Journal: Journal of medical genetics Issue: Volume 52:Issue 9(2015) Page Start: 627 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia. (August 2021) Authors: Shaibani, Aziz; Khan, Shaida; Shinawi, Marwan Journal: Neurology Issue: Volume 7:Number 4(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. Issue 5 (12th November 2009) Authors: Shinawi, Marwan; Liu, Pengfei; Kang, Sung-Hae L; Shen, Joseph; Belmont, John W; Scott, Daryl A; Probst, Frank J; Craigen, William J; Graham, Brett H; Pursley, Amber; Clark, Gary; Lee, Jennifer; Proud, Monica; Stocco, Amber; Rodriguez, Diana L; Kozel, Beth A; Sparagana, Steven; Roeder, Elizabeth R... Journal: Journal of medical genetics Issue: Volume 47:Issue 5(2010) Page Start: 332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment. Issue 11 (1st October 2020) Authors: Simmons, Roxanne L.; Li, Haiyan; Alten, Baris; Santos, Magda S.; Jiang, Ruiji; Paul, Brianna; Lalani, Sanam J.; Cortesi, Audrey; Parks, Kendall; Khandelwal, Nitin; Smith‐Packard, Bethany; Phoong, Malay A.; Chez, Michael; Fisher, Heather; Scheuerle, Angela E.; Shinawi, Marwan; Hussain, Shaun A.; K... Journal: Human mutation Issue: Volume 41:Issue 11(2020) Page Start: 1999 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Issue 3 (9th September 2021) Authors: Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarr... Journal: Human molecular genetics Issue: Volume 31:Issue 3(2022) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Tumor predisposition: what's the skin got to do with it?. Issue 4 (August 2022) Authors: Stacy, Andrea; Shinawi, Marwan; Coughlin, Carrie C. Journal: Current opinion in pediatrics Issue: Volume 34:Issue 4(2022) Page Start: 349 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Issue 11 (17th August 2017) Authors: Wambach, Jennifer A.; Stettner, Georg M.; Haack, Tobias B.; Writzl, Karin; Škofljanec, Andreja; Maver, Aleš; Munell, Francina; Ossowski, Stephan; Bosio, Mattia; Wegner, Daniel J.; Shinawi, Marwan; Baldridge, Dustin; Alhaddad, Bader; Strom, Tim M.; Grange, Dorothy K.; Wilichowski, Ekkehard; Troxel... Journal: Human mutation Issue: Volume 38:Issue 11(2017) Page Start: 1477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗