1. A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss. Issue 2 (13th April 2016) Authors: Zhao, Jianhua; Noon, Sarah E.; Krantz, Ian D.; Wu, Yaning Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 2(2016) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. Issue 3 (17th February 2017) Authors: Schwartz, Emily; Wilkens, Alisha; Noon, Sarah E.; Krantz, Ian D.; Wu, Yaning Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 809 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. Issue 3 (March 2017) Authors: Schwartz, Emily; Wilkens, Alisha; Noon, Sarah E.; Krantz, Ian D.; Wu, Yaning Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 809 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome. Issue 2 (10th May 2016) Authors: Cacioppo, Cara N.; Conway, Laura J.; Mehta, Devanshi; Krantz, Ian D.; Noon, Sarah E. Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 2(2016) Page Start: 229 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses. Issue 2 (4th May 2016) Authors: January, Kathleen; Conway, Laura J.; Deardorff, Matthew; Harrington, Ann; Krantz, Ian D.; Loomes, Kathleen; Pipan, Mary; Noon, Sarah E. Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 2(2016) Page Start: 237 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Characterization of limb differences in children with Cornelia de Lange Syndrome. Issue 2 (27th April 2016) Authors: Mehta, Devanshi; Vergano, Samantha A. Schrier; Deardorff, Matthew; Aggarwal, Sarika; Barot, Akash; Johnson, Drew M.; Miller, Nathan F.; Noon, Sarah E.; Kaur, Maninder; Jackson, Laird; Krantz, Ian D. Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 2(2016) Page Start: 155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Cover Image, Volume 172C, Number 2, June 2016. Issue 2 (June 2016) Authors: Noon, Sarah E.; Deardorff, Matthew A.; Krantz, Ian D. Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 2(2016) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Dr. Laird G. Jackson Festschrift. Issue 2 (5th May 2016) Authors: Noon, Sarah E.; Deardorff, Matthew A.; Krantz, Ian D. Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 2(2016) Page Start: 72 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features. Issue 2 (20th April 2016) Authors: Katz, Olivia L.; Krantz, Ian D.; Noon, Sarah E. Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 2(2016) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity. Issue 2 (29th April 2016) Authors: Kaur, Maninder; Mehta, Devanshi; Noon, Sarah E.; Deardorff, Matthew A.; Zhang, Zhe; Krantz, Ian D. Other Names: Noon Sarah E. guestEditor.; Deardorff Matthew A. guestEditor.; Krantz Ian D. guestEditor. Journal: American journal of medical genetics Issue: Volume 172:Issue 2(2016) Page Start: 163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗