1. Beyond Diagnostic Yield: Prenatal Exome Sequencing Results in Maternal, Neonatal, and Familial Clinical Management Changes. Issue 11 (November 2021) Authors: Tolusso, Leandra K.; Hazelton, Paige; Wong, Beatrix; Swarr, Daniel T. Journal: Obstetrical & gynecological survey Issue: Volume 76:Issue 11(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Beyond Diagnostic Yield: Prenatal Exome Sequencing Results in Maternal, Neonatal, and Familial Clinical Management Changes. Issue 11 (November 2021) Authors: Tolusso, Leandra K.; Hazelton, Paige; Wong, Beatrix; Swarr, Daniel T. Journal: Obstetrical & gynecological survey Issue: Volume 76:Issue 11(2021) Page Start: 663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy. Issue 8 (26th June 2013) Authors: Kalish, Jennifer M.; Conlin, Laura K.; Bhatti, Tricia R.; Dubbs, Holly A.; Harris, Mary Catherine; Izumi, Kosuke; Mostoufi‐Moab, Sogol; Mulchandani, Surabhi; Saitta, Sulagna; States, Lisa J.; Swarr, Daniel T.; Wilkens, Alisha B.; Zackai, Elaine H.; Zelley, Kristin; Bartolomei, Marisa S.; Nichols,... Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 1929 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly‐capillary malformation syndrome. (23rd July 2013) Authors: Swarr, Daniel T.; Khalek, Nahla; Treat, James; Horton, Margaret A.; Mirzaa, Ghayda M.; Riviere, Jean‐Baptiste; Dobyns, William B.; Zackai, Elaine H. Journal: Prenatal diagnosis Issue: Volume 33:Number 10(2013:Oct.) Page Start: 1010 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain. Issue 6 (12th April 2013) Authors: Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E.; Dharmadhikari, Avinash V.; Mostafa, Hasnaa; Kozakewich, Harry; Kearney, Debra; Cahill, John B.; Whitt, Merrissa; Bilic, Masha; Margraf, Linda; Charles, Adrian; Goldblatt, Jack; Gibson, Kath... Journal: Human mutation Issue: Volume 34:Issue 6(2013:Jun.) Page Start: 801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel FREM1 mutations expand the phenotypic spectrum associated with manitoba‐oculo‐tricho‐anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome1. Issue 3 (8th February 2013) Authors: Nathanson, Jared; Swarr, Daniel T.; Singer, Amihood; Liu, Mochi; Chinn, Amy; Jones, Wendy; Hurst, Jane; Khalek, Nahla; Zackai, Elaine; Slavotinek, Anne Journal: American journal of medical genetics Issue: Volume 161:Issue 3(2013:Mar.) Page Start: 473 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Preterm infant with diprosopus and holoprosencephaly. Issue 12 (22nd December 2021) Authors: Nair, Nitya M.; Swarr, Daniel T.; Barnes‐Davis, Maria E. Journal: Clinical case reports Issue: Volume 9:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗