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Author/Creator Sebastian, Jessica

1. Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing. Issue 4 (8th January 2020)

Authors:
Hu, Jie; Ou, Zhishuo; Surti, Urvashi; Kochmar, Sally; Hoffner, Lori; Madan‐Khetarpal, Suneeta; Arnold, Georgianne L.; Walsh, Leslie; Acquaro, Roxanne; Sebastian, Jessica; Yatsenko, Svetlana A.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 4(2020)
Page Start:
813
Record Type:
Journal Article
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2. Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype. Issue 1 (22nd December 2020)

Authors:
Rossetti, Linda Z.; Bekheirnia, Mir Reza; Lewis, Andrea M.; Mefford, Heather C.; Golden‐Grant, Katie; Tarczy‐Hornoch, Kristina; Briere, Lauren C.; Sweetser, David A.; Walker, Melissa A.; Kravets, Elijah; Stevenson, David A.; Bruenner, Georgette; Sebastian, Jessica; Knapo, Julia; Rosenfeld, Jill A...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 1(2021)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots. (15th July 2022)

Authors:
Aarabi, Mahmoud; Baumann, Jacqueline; Babcock, Melanie; Kessler, Elena; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Hu, Jie; Ou, Zhishuo; Yatsenko, Svetlana
Journal:
Psychiatric genetics
Issue:
Volume 32:Number 5(2022)
Page Start:
171
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Familial deletion of the HOXA gene cluster associated with Hand–Foot–Genital syndrome and phenotypic variability. Issue 1 (20th September 2016)

Authors:
Tas, Emir; Sebastian, Jessica; Madan‐Khetarpal, Suneeta; Sweet, Philip; Yatsenko, Alexander N.; Pollock, Nijole; Rajkovic, Aleksandar; Schneck, Francis X.; Yatsenko, Svetlana A.; Witchel, Selma Feldman
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 1(2017)
Page Start:
221
Record Type:
Journal Article
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6. A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods. Issue 3 (4th December 2021)

Authors:
Gurunathan, Sharavana; Sebastian, Jessica; Baker, Jennifer; Abdel‐Hamid, Hoda Z.; West, Shawn C.; Feingold, Brian; Peche, Vivek; Reyes‐Múgica, Miguel; Madan‐Khetarpal, Suneeta; Field, Jeffrey
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 3(2022)
Page Start:
970
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗