1. 22q and two: 22q11.2 deletion syndrome and coexisting conditions. Issue 10 (23rd September 2018) Authors: Cohen, Jennifer L.; Crowley, Terrence B.; McGinn, Daniel E.; McDougall, Carey; Unolt, Marta; Lambert, Michele P.; Emanuel, Beverly S.; Zackai, Elaine H.; McDonald‐McGinn, Donna M. Other Names: McDonald‐McGinn Donna M. guestEditor. Journal: American journal of medical genetics Issue: Volume 176:Issue 10(2018) Page Start: 2203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Absent digit in Russell-Silver syndrome: expanding the clinical spectrum of a well known syndrome. Issue 2 (April 2020) Authors: Strong, Alanna; McDougall, Carey; Zackai, Elaine Journal: Clinical dysmorphology Issue: Volume 29:Issue 2(2020:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients. Issue 12 (11th October 2020) Authors: Cohen, Jennifer L.; Schrier Vergano, Samantha A.; Mazzola, Sarah; Strong, Alanna; Keena, Beth; McDougall, Carey; Ritter, Alyssa; Li, Dong; Bedoukian, Emma C.; Burke, Leah W.; Hoffman, Amber; Zurcher, Victoria; Krantz, Ian D.; Izumi, Kosuke; Bhoj, Elizabeth; Zackai, Elaine H.; Deardorff, Matthew A. Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 2926 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. Issue 4 (6th January 2023) Authors: Matalon, Dena R.; Bhoj, Elizabeth J.; Li, Dong; McDougall, Carey; Schindewolf, Erica; Khalek, Nahla; Wilkens, Alisha; McManus, Morgan; Deardorff, Matthew A.; Zackai, Elaine H. Journal: American journal of medical genetics Issue: Volume 191:Issue 4(2023) Page Start: 977 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations. Issue 4 (4th February 2019) Authors: Grand, Katheryn; Gonzalez‐Gandolfi, Christina; Ackermann, Amanda M.; Aljeaid, Deema; Bedoukian, Emma; Bird, Lynne M.; De Leon, Diva D.; Diaz, Jullianne; Hopkin, Robert J.; Kadakia, Sejal P.; Keena, Beth; Klein, Karen O.; Krantz, Ian; Leon, Eyby; Lord, Katherine; McDougall, Carey; Medne, Livija; S... Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 542 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Muenke syndrome: Medical and surgical comorbidities and long‐term management. Issue 8 (20th May 2019) Authors: Murali, Chaya N.; McDonald‐McGinn, Donna M.; Wenger, Tara Lynn; McDougall, Carey; Stroup, Bridget M.; Sheppard, Sarah E.; Taylor, Jesse; Bartlett, Scott P.; Bhoj, Elizabeth J.; Zackai, Elaine H.; Santani, Avni Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1442 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy. Issue 8 (17th June 2019) Authors: Carter, Lauren B.; Battaglia, Agatino; Cherry, Athena; Manning, Melanie A.; Ruzhnikov, Maura RZ; Bird, Lynne M.; Dowsett, Leah; Graham, John M.; Alkuraya, Fowzan S.; Hashem, Mais; Dinulos, Mary Beth; Vallee, Stephanie; Adam, Margaret P.; Glass, Ian; Beck, Anita E.; Stevens, Cathy A.; Zackai, Elai... Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pretest Genetic Education Video Versus Genetic Counseling for Men Considering Prostate Cancer Germline Testing: A Patient-Choice Study to Address Urgent Practice Needs. (1st September 2021) Authors: Russo, Jessica; McDougall, Carey; Bowler, Nicholas; Shimada, Ayako; Gross, Laura; Hyatt, Colette; Kelly, William K.; Calvaresi, Anne; Handley, Nathan R.; Hirsch, Irvin H.; Izes, Joseph K.; Lallas, Costas D.; Mann, Mark; Mark, James Ryan; Mille, Patrick J.; Preate, Donald; Trabulsi, Edouard J.; Ts... Journal: JCO precision oncology Issue: Volume 5(2021) Page Start: 1377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Pretest Genetic Education Video Versus Genetic Counseling for Men Considering Prostate Cancer Germline Testing: A Patient-Choice Study to Address Urgent Practice Needs. (2021) Authors: Russo, Jessica; McDougall, Carey; Bowler, Nicholas; Shimada, Ayako; Gross, Laura; Hyatt, Colette; Kelly, William K.; Calvaresi, Anne; Handley, Nathan R.; Hirsch, Irvin H.; Izes, Joseph K.; Lallas, Costas D.; Mann, Mark; Mark, James Ryan; Mille, Patrick J.; Preate, Donald; Trabulsi, Edouard J.; Ts... Journal: JCO precision oncology Issue: Volume 5(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗