1. Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. (February 2021) Authors: Ziegler, Marvin; Russell, Bianca E.; Eberhardt, Kathrin; Geisel, Gregory; D'Amore, Angelica; Sahin, Mustafa; Kornblum, Harley I.; Ebrahimi-Fakhari, Darius Journal: Neurology Issue: Volume 7:Number 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical findings in 39 individuals with Bohring–Opitz syndrome from a global patient‐driven registry with implications for tumor surveillance and recurrence risk. Issue 4 (7th February 2023) Authors: Russell, Bianca E.; Kianmahd, Rebecca R.; Munster, Chelsea; Yu, Anna; Ahad, Leena; Tan, Wen‐Hann Journal: American journal of medical genetics Issue: Volume 191:Issue 4(2023) Page Start: 1050 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13. Issue 3 (16th May 2019) Authors: Russell, Bianca E.; Whaley, Kaitlin G.; Bove, Kevin E.; Labilloy, Anatalia; Lombardo, Rachel C.; Hopkin, Robert J.; Leslie, Nancy D.; Prada, Carlos; Assouline, Zahra; Barcia, Giulia; Bouchereau, Juliette; Chomton, Maryline; Debray, Dominique; Dorboz, Imen; Durand, Philippe; Gaignard, Pauline; Hab... Journal: Hepatology Issue: Volume 70:Issue 3(2019) Page Start: 1066 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy. (7th January 2021) Authors: Efthymiou, Stephanie; Dutra‐Clarke, Marina; Maroofian, Reza; Kaiyrzhanov, Rauan; Scala, Marcello; Reza Alvi, Javeria; Sultan, Tipu; Christoforou, Marilena; Tuyet Mai Nguyen, Thi; Mankad, Kshitij; Vona, Barbara; Rad, Aboulfazl; Striano, Pasquale; Salpietro, Vincenzo; Guillen Sacoto, Maria J.; Zaki... Journal: Epilepsia Issue: Volume 62:issue 2(2021) Page Start: e35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Issue 11 (7th September 2019) Authors: Russell, Bianca E.; Rigueur, Diana; Weaver, Kathryn N.; Sund, Kristen; Basil, Janet S.; Hufnagel, Robert B.; Prows, Cynthia A.; Oestreich, Alan; Al‐Gazali, Lihadh; Hopkin, Robert J; Saal, Howard M.; Lyons, Karen; Dauber, Andrew Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 11(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗