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Author/Creator Ritter, Alyssa

1. 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
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2. Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study. (21st February 2023)

Authors:
Griffin, Emily L.; Nees, Shannon N.; Morton, Sarah U.; Wynn, Julia; Patel, Nihir; Jobanputra, Vaidehi; Robinson, Scott; Kochav, Stephanie M.; Tao, Alice; Andrews, Carli; Cross, Nancy; Geva, Judith; Lanzilotta, Kristen; Ritter, Alyssa; Taillie, Eileen; Thompson, Alexandra; Meyer, Chris; Akers, Rac...
Journal:
Circulation
Issue:
Volume 16:Number 2(2023)
Page Start:
e003791
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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7. MYH7 variants cause complex congenital heart disease. Issue 9 (2nd May 2022)

Authors:
Ritter, Alyssa; Leonard, Jacqueline; Gray, Christopher; Izumi, Kosuke; Levinson, Katharine; Nair, Divya R.; O'Connor, Matthew; Rossano, Joseph; Shankar, Venkat; Chowns, Jessica; Marzolf, Amy; Owens, Anjali; Ahrens‐Nicklas, Rebecca C.
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 9(2022)
Page Start:
2772
Record Type:
Journal Article
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10. NKX2‐6 related congenital heart disease: Biallelic homeodomain‐disrupting variants and truncus arteriosus. Issue 6 (21st March 2020)

Authors:
Ritter, Alyssa; Werner, Petra; Latney, Brande; Krock, Bryon L.; Santani, Avni; Bedoukian, Emma; Skraban, Cara M.; Deardorff, Matthew A.; Goldmuntz, Elizabeth
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 6(2020)
Page Start:
1454
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗