1. Additional post-natal diagnoses following antenatal diagnosis of isolated cleft lip +/− palate. Issue 4 (13th March 2014) Authors: Burnell, Lindsay; Verchere, Cynthia; Pugash, Denise; Loock, Christine; Robertson, Sandra; Lehman, Anna Journal: Archives of disease in childhood Issue: Volume 99:Issue 4(2014) Page Start: F286 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes. Issue 11 (15th March 2017) Authors: Roston, Thomas M; Cunningham, Taylor; Lehman, Anna; Laksman, Zachary W; Krahn, Andrew D; Sanatani, Shubhayan Journal: Clinical Medicine Insights Issue: Issue 11(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?. Issue 10 (10th August 2022) Authors: Gazzaz, Nour; Frost, F. Graeme; Alderman, Emily; Richmond, Phillip A.; Dalmann, Joshua; Lin, Susan; Salman, Areesha; Del Bel, Kate L.; Lehman, Anna; Turvey, Stuart E.; Boerkoel, Cornelius F.; Cherukuri, Praveen F. Journal: American journal of medical genetics Issue: Volume 188:Issue 10(2022) Page Start: 3089 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Carnitine deficiency, hearing loss and hydrochlorothiazide‐induced diabetes mellitus associated with the recurrent p.Trp85Arg variant in HNF4A. Issue 10 (31st July 2022) Authors: Mattman, Andre; Masoudi, Raha; Stockler‐Ipsiroglu, Sylvia; Zivkovic, Irena; Lehman, Anna; Dionne, Janis M. Journal: American journal of medical genetics Issue: Volume 188:Issue 10(2022) Page Start: 3139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. Issue 1 (December 2016) Authors: Maduro, Valerie; Pusey, Barbara; Cherukuri, Praveen; Atkins, Paul; du Souich, Christèle; Rupps, Rosemarie; Limbos, Marjolaine; Adams, David; Bhatt, Samarth; Eydoux, Patrice; Links, Amanda; Lehman, Anna; Malicdan, May; Mason, Christopher; Morimoto, Marie; Mullikin, James; Sear, Andrew; Van Karnebe... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diffuse angiopathy in Adams‐Oliver syndrome associated with truncating DOCK6 mutations. Issue 10 (4th August 2014) Authors: Lehman, Anna; Stittrich, Anna‐Barbara; Glusman, Gustavo; Zong, Zheyuan; Li, Hong; Eydoux, Patrice; Senger, Christof; Lyons, Christopher; Roach, Jared C.; Patel, Millan Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2656 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Diffuse angiopathy in Adams‐Oliver syndrome associated with truncating DOCK6 mutations. Issue 10 (4th August 2014) Authors: Lehman, Anna; Stittrich, Anna‐Barbara; Glusman, Gustavo; Zong, Zheyuan; Li, Hong; Eydoux, Patrice; Senger, Christof; Lyons, Christopher; Roach, Jared C.; Patel, Millan Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2656 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Etiologies of uterine malformations. Issue 8 (8th June 2016) Authors: Jacquinet, Adeline; Millar, Debra; Lehman, Anna Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2141 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Familial impairment of vocal cord mobility in childhood with clubfoot. Issue 4 (October 2018) Authors: Shaw, Rebecca; Dias, Cristina; Ludemann, Jeffrey; Rupps, Rosemarie; Tsai, Vance; Lehman, Anna Journal: Clinical dysmorphology Issue: Volume 27:Issue 4(2018:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?. Issue 12 (8th September 2017) Authors: Myers, Angela; du Souich, Christèle; Yang, Connie L.; Borovik, Lior; Mwenifumbo, Jill; Rupps, Rosemarie; Study, CAUSES; Lehman, Anna; Boerkoel, Cornelius F. Journal: American journal of medical genetics Issue: Volume 173:Issue 12(2017) Page Start: 3172 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗