1. A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy. Issue 3 (27th December 2019) Authors: Mendelsohn, Bryce A.; Beleford, Daniah T.; Abu‐El‐Haija, Aya; Alsaleh, Norah S.; Rahbeeni, Zuhair; Martin, Pierre‐Marie; Rego, Shannon; Huang, Alyssa; Capodanno, Gina; Shieh, Joseph T.; Van Ziffle, Jessica; Risch, Neil; Alkuraya, Fowzan S.; Slavotinek, Anne M. Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 513 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Advanced bone age in a girl with Wiedemann–Steiner syndrome and an exonic deletion in KMT2A (MLL). Issue 8 (12th May 2014) Authors: Mendelsohn, Bryce A.; Pronold, Melissa; Long, Roger; Smaoui, Nizar; Slavotinek, Anne M. Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 2079 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech. Issue 9 (23rd July 2020) Authors: Solomon, Benjamin D.; Slavotinek, Anne M. Journal: American journal of medical genetics Issue: Volume 182:Issue 9(2020) Page Start: 2003 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip. (January 2020) Authors: Ko, Jaemin; Pomerantz, Jason H.; Perry, Hazel; Shieh, Joseph T.; Slavotinek, Anne M.; Oberoi, Snehlata; Klein, Ophir D. Journal: Cleft palate-craniofacial journal Issue: Volume 57:Number 1(2020) Page Start: 132 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue1. Issue 3 (11th February 2013) Authors: Li, Ben C.; Hogue, Jacob; Eilers, Meg; Mehrotra, Pavni; Hyland, James; Holm, Tara; Prosen, Tracy; Slavotinek, Anne M. Journal: American journal of medical genetics Issue: Volume 161:Issue 3(2013:Mar.) Page Start: 619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. Issue 11 (28th September 2017) Authors: Eppley, Sarah; Hopkin, Robert J.; Mendelsohn, Bryce; Slavotinek, Anne M. Journal: American journal of medical genetics Issue: Volume 173:Issue 11(2017) Page Start: 3075 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. Issue 11 (28th September 2017) Authors: Eppley, Sarah; Hopkin, Robert J.; Mendelsohn, Bryce; Slavotinek, Anne M. Journal: American journal of medical genetics Issue: Volume 173:Issue 11(2017) Page Start: 3075 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. Issue 7 (16th May 2014) Authors: Tunovic, Sanjin; Barkovich, James; Sherr, Elliott H.; Slavotinek, Anne M. Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1744 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. Issue 11 (29th August 2019) Authors: Darras, Natasha; Ha, Thoa K.; Rego, Shannon; Martin, Pierre‐Marie; Barroso, Eva; Slavotinek, Anne M.; Cilio, Maria R. Journal: American journal of medical genetics Issue: Volume 179:Issue 11(2019) Page Start: 2190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗