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Author/Creator Elsea, Sarah H.

1. A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay. Issue 4 (21st February 2022)

Authors:
Verdi, Giavanna; Li, Dong; Elsea, Sarah H.; Nelson, Beverly; Bhoj, Elizabeth J.; Hakonarson, Hakon; Yearwood, Katherine R.; Upadhya, Sharmila; Gluschitz, Sarah; Smith, Janice L.; Sobering, Andrew K.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 10:Issue 4(2022)
Page Start:
n/a
Record Type:
Journal Article
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2. A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Issue 1 (12th September 2021)

Authors:
Odom, John; Amin, Hitha; Gijavanekar, Charul; Elsea, Sarah H.; Kralik, Stephen; Chinen, Javier; Lin, Yuezhen; Yates, Amber Meshell Mayfield; Mizerik, Elizabeth; Potocki, Lorraine; Scaglia, Fernando
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
259
Record Type:
Journal Article
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3. A Prospective Trial of Withdrawal and Reinstitution of Ursodeoxycholic Acid in Pediatric Primary Sclerosing Cholangitis. Issue 11 (29th August 2019)

Authors:
Black, Dennis D.; Mack, Cara; Kerkar, Nanda; Miloh, Tamir; Sundaram, Shikha S.; Anand, Ravinder; Gupta, Ashutosh; Alonso, Estella; Arnon, Ronen; Bulut, Pinar; Karpen, Saul; Lin, Chuan‐Hao; Rosenthal, Philip; Ryan, Matthew; Squires, Robert H.; Valentino, Pamela; Elsea, Sarah H.; Shneider, Benjamin L.
Journal:
Hepatology communications
Issue:
Volume 3:Issue 11(2019)
Page Start:
1482
Record Type:
Journal Article
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4. Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy. (September 2021)

Authors:
Lim, Jaehyung; Shayota, Brian J.; Lay, Erica; Elsea, Sarah H.; Bekheirnia, Mir Reza; Tessier, Mary Elizabeth M.; Kralik, Stephen F.; Rice, Gregory M.; Soler-Alfonso, Claudia; Scaglia, Fernando
Journal:
Journal of child neurology
Issue:
Volume 36:Number 10(2021)
Page Start:
841
Record Type:
Journal Article
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5. Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro‐Caribbean family. Issue 8 (8th June 2020)

Authors:
Thompson, Wayne; Carey, Patrick Z.; Donald, Tyhiesia; Nelson, Beverly; Bhoj, Elizabeth J.; Li, Dong; Hakonarson, Hakon; Ramirez, Maricela; Elsea, Sarah H.; Smith, Janice L.; Carey, John C.; Sobering, Andrew K.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 8(2020)
Page Start:
n/a
Record Type:
Journal Article
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6. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Issue 9 (24th June 2020)

Authors:
Elsea, Sarah H.; Solyom, Alexander; Martin, Kirt; Harmatz, Paul; Mitchell, John; Lampe, Christina; Grant, Christina; Selim, Laila; Mungan, Neslihan Oneli; Guelbert, Norberto; Magnusson, Bo; Sundberg, Erik; Puri, Ratna; Kapoor, Seema; Arslan, Nur; DiRocco, Maja; Zaki, Maha; Ozen, Seza; Mahmoud, Im...
Journal:
Human mutation
Issue:
Volume 41:Issue 9(2020)
Page Start:
1469
Record Type:
Journal Article
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9. Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures. Issue 10 (10th July 2019)

Authors:
Pillai, Nishitha R.; AlDhaheri, Noura S.; Ghosh, Rajarshi; Lim, Jaehyung; Streff, Haley; Nayak, Anuranjita; Graham, Brett H.; Hanchard, Neil A.; Elsea, Sarah H.; Scaglia, Fernando
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 10(2019)
Page Start:
2138
Record Type:
Journal Article
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10. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022)

Authors:
Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill V.; Sutton, V. Reid; E...
Journal:
Annals of neurology
Issue:
Volume 92:Issue 2(2022)
Page Start:
304
Record Type:
Journal Article
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