1. "CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557‐2566, 2014. (5th May 2015) Authors: Wenger, Tara L.; Harr, Margaret; Ricciardi, Stefania; Bhoj, Elizabeth; Santani, Avni; Adam, Margaret P.; Barnett, Sarah S.; Ganetzky, Rebecca; McDonald‐McGinn, Donna M.; Battaglia, Domenica; Bigoni, Stefania; Selicorni, Angelo; Sorge, Giovanni; Monica, Matteo Della; Mari, Francesca; Andreucci, El... Journal: American journal of medical genetics Issue: Volume 167:Number 7(2015:Jul.) Page Start: 1682 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Issue 5 (11th July 2022) Authors: Ganapathi, Mythily; Friocourt, Gaelle; Gueguen, Naig; Friederich, Marisa W.; Le Gac, Gerald; Okur, Volkan; Loaëc, Nadège; Ludwig, Thomas; Ka, Chandran; Tanji, Kurenai; Marcorelles, Pascale; Theodorou, Evangelos; Lignelli‐Dipple, Angela; Voisset, Cécile; Walker, Melissa A.; Briere, Lauren C.; Bour... Other Names: Bhattacharya Kaustuv guestEditor. Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 5(2022) Page Start: 996 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Issue 7 (21st March 2016) Authors: Ng, Bobby G.; Shiryaev, Sergey A.; Rymen, Daisy; Eklund, Erik A.; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E.; Alehan, Fusun; Midro, Alina T.; Bamshad, Michael J.; Barone, Rita; Berry, Gerard T.; Brumbaugh, Jane E.; Buckingham, Kati J.; Clarkson, Katie; Cole, F. Sessions; O'Connor, Shawn; ... Journal: Human mutation Issue: Volume 37:Issue 7(2016) Page Start: 653 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. Issue 10 (14th August 2014) Authors: Wenger, Tara L.; Harr, Margaret; Ricciardi, Stefania; Bhoj, Elizabeth; Santani, Avni; Adam, Margaret P.; Barnett, Sarah S.; Ganetzky, Rebecca; McDonald‐McGinn, Donna M.; Battaglia, Domenica; Bigoni, Stefania; Selicorni, Angelo; Sorge, Giovanni; Monica, Matteo Della; Mari, Francesca; Andreucci, El... Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. Issue 10 (14th August 2014) Authors: Wenger, Tara L.; Harr, Margaret; Ricciardi, Stefania; Bhoj, Elizabeth; Santani, Avni; Adam, Margaret P.; Barnett, Sarah S.; Ganetzky, Rebecca; McDonald‐McGinn, Donna M.; Battaglia, Domenica; Bigoni, Stefania; Selicorni, Angelo; Sorge, Giovanni; Monica, Matteo Della; Mari, Francesca; Andreucci, El... Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature. Issue 11 (16th August 2022) Authors: Ron, Hayley A.; Scobell, Rebecca; Strong, Amy; Salazar, Elizabeth G.; Ganetzky, Rebecca Journal: American journal of medical genetics Issue: Volume 188:Issue 11(2022) Page Start: 3312 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Development of a Mitochondrial Myopathy‐Composite Assessment Tool. Issue 4 (30th August 2021) Authors: Flickinger, Jean; Fan, Jiaxin; Wellik, Amanda; Ganetzky, Rebecca; Goldstein, Amy; Muraresku, Colleen C.; Glanzman, Allan M.; Ballance, Elizabeth; Leonhardt, Kristin; McCormick, Elizabeth M.; Soreth, Brianna; Nguyen, Sara; Gornish, Jennifer; George‐Sankoh, Ibrahim; Peterson, James; MacMullen, Laur... Journal: JCSM clinical reports Issue: Volume 6:Issue 4(2021) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features. Issue 5 (4th June 2015) Authors: Ganetzky, Rebecca; Finn, Erin; Bagchi, Atrish; Zollo, Ornella; Conlin, Laura; Deardorff, Matthew; Harr, Margaret; Simpson, Michael A.; McGrath, John A.; Zackai, Elaine; Lemmon, Mark A.; Sondheimer, Neal Journal: Molecular genetics & genomic medicine Issue: Volume 3:Issue 5(2015:Sep.) Page Start: 452 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. (31st May 2015) Authors: Ganetzky, Rebecca; Izumi, Kosuke; Edmondson, Andrew; Muraresku, Colleen Clarke; Zackai, Elaine; Deardorff, Matthew; Ganesh, Jaya Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2411 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. (31st May 2015) Authors: Ganetzky, Rebecca; Izumi, Kosuke; Edmondson, Andrew; Muraresku, Colleen Clarke; Zackai, Elaine; Deardorff, Matthew; Ganesh, Jaya Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2411 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗