1. A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. Issue 10 (10th October 2012) Authors: Zufferey, Flore; Sherr, Elliott H; Beckmann, Noam D; Hanson, Ellen; Maillard, Anne M; Hippolyte, Loyse; Macé, Aurélien; Ferrari, Carina; Kutalik, Zoltán; Andrieux, Joris; Aylward, Elizabeth; Barker, Mandy; Bernier, Raphael; Bouquillon, Sonia; Conus, Philippe; Delobel, Bruno; Faucett, W Andrew; Go... Other Names: Addor Marie Claude author non-byline.; Arveiler Benoit author non-byline.; Belfiore Marco author non-byline.; Bena Frédérique author non-byline.; Bernardini Laura author non-byline.; Blanchet Patricia author non-byline.; Bonneau Dominique author non-byline.; Boute Odile author non-byline.; Callie... Journal: Journal of medical genetics Issue: Volume 49:Issue 10(2012) Page Start: 660 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. All for one and one for all: heterogeneity of genetic etiologies in neurodevelopmental psychiatric disorders. (June 2021) Authors: Moreno-De-Luca, Daniel; Martin, Christa Lese Journal: Current opinion in genetics & development Issue: Volume 68(2021) Page Start: 71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chromosomal Microarray Testing For Children With Unexplained Neurodevelopmental Disorders. Issue 11 (November 2017) Authors: Martin, Christa Lese; Ledbetter, David H. Journal: Obstetrical & gynecological survey Issue: Volume 72:Issue 11(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. ClinGen's GenomeConnect registry enables patient‐centered data sharing. Issue 11 (11th October 2018) Authors: Savatt, Juliann M.; Azzariti, Danielle R.; Faucett, W. Andrew; Harrison, Steven; Hart, Jennifer; Kattman, Brandi; Landrum, Melissa J.; Ledbetter, David H.; Miller, Vanessa Rangel; Palen, Emily; Rehm, Heidi L.; Rhode, Jud; Turner, Stefanie; Vidal, Jo Anne; Wain, Karen E.; Riggs, Erin Rooney; Marti... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1668 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers. Issue 8 (28th June 2020) Authors: Hudac, Caitlin M.; Bove, Joanna; Barber, Shelley; Duyzend, Michael; Wallace, Ari; Martin, Christa Lese; Ledbetter, David H.; Hanson, Ellen; Goin‐Kochel, Robin P.; Green‐Snyder, LeeAnne; Chung, Wendy K.; Eichler, Evan E.; Bernier, Raphael A. Journal: Autism research Issue: Volume 13:Issue 8(2020) Page Start: 1300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group. Issue 11 (11th October 2018) Authors: Webber, Elizabeth M.; Hunter, Jessica Ezzell; Biesecker, Leslie G.; Buchanan, Adam H.; Clarke, Elizabeth V.; Currey, Erin; Dagan‐Rosenfeld, Orit; Lee, Kristy; Lindor, Noralane M.; Martin, Christa Lese; Milosavljevic, Aleksandar; Mittendorf, Kathleen F.; Muessig, Kristin R.; O'Daniel, Julianne M.;... Other Names: Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor. Journal: Human mutation Issue: Volume 39:Issue 11(2018) Page Start: 1677 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. Issue 5 (7th May 2010) Authors: Bruno, Damien L; Anderlid, Britt-Marie; Lindstrand, Anna; van Ravenswaaij-Arts, Conny; Ganesamoorthy, Devika; Lundin, Johanna; Martin, Christa Lese; Douglas, Jessica; Nowak, Catherine; Adam, Margaret P; Kooy, R Frank; Van der Aa, Nathalie; Reyniers, Edwin; Vandeweyer, Geert; Stolte-Dijkstra, Iren... Journal: Journal of medical genetics Issue: Volume 47:Issue 5(2010) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge. Issue 10 (6th August 2015) Authors: Kirkpatrick, Brianne E.; Riggs, Erin Rooney; Azzariti, Danielle R.; Miller, Vanessa Rangel; Ledbetter, David H.; Miller, David T.; Rehm, Heidi; Martin, Christa Lese; Faucett, W. Andrew; On Behalf of the ClinGen Resource Journal: Human mutation Issue: Volume 36:Issue 10(2015:Oct.) Page Start: 974 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Incorporating Social Media into your Support Tool Box: Points to Consider from Genetics‐Based Communities. Issue 2 (13th November 2017) Authors: Rocha, Heather Mae; Savatt, Juliann M.; Riggs, Erin Rooney; Wagner, Jennifer K.; Faucett, W. Andrew; Martin, Christa Lese Journal: Journal of genetic counseling Issue: Volume 27:Issue 2(2018) Page Start: 470 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Letter to the editor. Issue 4 (22nd April 2023) Authors: Finucane, Brenda; Myers, Scott M.; Challman, Thomas D.; Martin, Christa Lese; Ledbetter, David H. Journal: Autism research Issue: Volume 16:Issue 4(2023) Page Start: 678 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗