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Author/Creator Stoler, Joan

2. Clinical utility of a next generation sequencing panel assay for Marfan and Marfan‐like syndromes featuring aortopathy. (5th May 2015)

Authors:
Wooderchak‐Donahue, Whitney; VanSant‐Webb, Chad; Tvrdik, Tatiana; Plant, Parker; Lewis, Tracey; Stocks, Jennifer; Raney, Joshua A.; Meyers, Lindsay; Berg, Alizabeth; Rope, Alan F.; Yetman, Anji T.; Bleyl, Steven B.; Mesley, Rebecca; Bull, David A.; Collins, R. Thomas; Ojeda, Mayra Martinez; Rober...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 8(2015:Aug.)
Page Start:
1747
Record Type:
Journal Article
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3. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. Issue 6 (30th March 2021)

Authors:
Sheppard, Sarah E.; Campbell, Ian M.; Harr, Margaret H.; Gold, Nina; Li, Dong; Bjornsson, Hans T.; Cohen, Julie S.; Fahrner, Jill A.; Fatemi, Ali; Harris, Jacqueline R.; Nowak, Catherine; Stevens, Cathy A.; Grand, Katheryn; Au, Margaret; Graham, John M.; Sanchez‐Lara, Pedro A.; Campo, Miguel Del;...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 6(2021)
Page Start:
1649
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature. Issue 10 (16th August 2013)

Authors:
Guo, Michael H.; Stoler, Joan; Lui, Julian; Nilsson, Ola; Bianchi, Diana W.; Hirschhorn, Joel N.; Dauber, Andrew
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 10(2013:Oct.)
Page Start:
2519
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. Issue 6 (3rd September 2019)

Authors:
Reuter, Chloe M.; Kohler, Jennefer N.; Bonner, Devon; Zastrow, Diane; Fernandez, Liliana; Dries, Annika; Marwaha, Shruti; Davidson, Jean; Brokamp, Elly; Herzog, Matthew; Hong, Joyce; Macnamara, Ellen; Rosenfeld, Jill A.; Schoch, Kelly; Spillmann, Rebecca; Loscalzo, Joseph; Krier, Joel; Stoler, Jo...
Journal:
Journal of genetic counseling
Issue:
Volume 28:Issue 6(2019)
Page Start:
1107
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗