Sarah H Elsea (Sarah Elsea)

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2015-2023
Publications (10 Years): 17

Top Venues

Molecular genetics & genomic medicine

American journal of medical genetics. Part A

Annals of neurology

Human mutation

This page only lists publications with an associated author ORCID identifier.

Publications

Azam Yazdani, Raul Mendez-Giraldez, Akram Yazdani, Daniel Schaid, Sek Won Kong, Mohamad Hadi, Ahmad Samiei, Clemens Wittenbecher, Jessica Lasky-Su, Andrew T Chan, Francesco Marotta, Michael Kosorok, Samia Mora, Jochen Muehlschlegel, Daniel Chasman, Martin Larson, Sarah H Elsea
Broadcasters, receivers, functional groups of metabolites and the link to heart failure progression using polygenic factors. Research square (2023)
Kirt Martin, Alice McConnell, Sarah H Elsea
Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency. Journal of child neurology 36 (13-14) (2022)
Giavanna Verdi, Dong Li, Sarah H Elsea, Beverly Nelson, Elizabeth Joyce Bhoj, Hakon H Hakonarson, Katherine R Yearwood, Sharmila Upadhya, Sarah Gluschitz, Janice L Smith, Andrew K Sobering
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay. Molecular genetics & genomic medicine 10 (4) (2022)
Stacey R McGee, Shivakumar Rajamanickam, Sandeep Adhikari, Oluwatosin C Falayi, Theresa A Wilson, Brian J Shayota, Jessica A Cooley Coleman, Cindy Skinner, Raymond C Caylor, Roger E Stevenson, Caio Robledo D' Angioli Costa Quaio, Berenice Cunha Wilke, Jennifer M Bain, Kwame Anyane-Yeboa, Kaitlyn Brown, John M Greally, Emilia K Bijlsma, Claudia A L Ruivenkamp, Keren Politi, Lydia A Arbogast, Michael W Collard, Jodi I Huggenvik, Sarah H Elsea, Philip J Jensik
Expansion and mechanistic insights of de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Human molecular genetics (2022)
Daniel G Calame, Isabella Herman, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Jawid M Fatih, Tadahiro Mitani, Haowei Du, Christopher M Grochowski, Sergio B Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko A Ito, Clarissa Rocca, Jill V Hunter, Vernon Reid Sutton, Lisa T Emrick, Kym M Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal W Saadi, Maha S Zaki, Arjan Bouman, Tahsin Stefan Barakat, David L Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh-Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Abbas Al-Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C Robson, Zeynep Coban-Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, Michael C Kruer, Kristin D Kernohan, Jonas A Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H Elsea, Davut Pehlivan, Dana Marafi, James R. Lupski
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Annals of neurology 92 (2) (2022)
Xiqi Li, Aleksandar Milosavljevic, Sarah H Elsea, Chi Chiu Wang, Fernando Scaglia, Argyro Syngelaki, Kypros H Nicolaides, Liona Chiu Yee Poon
Effective Aspirin Treatment of Women at Risk for Preeclampsia Delays the Metabolic Clock of Gestation. Hypertension (Dallas, Tex. : 1979) 78 (5) (2021)
Anusha Gandhi, Dihong Zhou, Joseph Alaimo, Edwin Chon, Michael D Fountain, Sarah H Elsea
Composite Sleep Problems Observed Across Smith-Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt-Hopkins Syndrome, and ASD. Journal of autism and developmental disorders 51 (6) (2021)
Lillian R Thistlethwaite, Varduhi Petrosyan, Xiqi Li, Marcus J Miller, Sarah H Elsea, Aleksandar Milosavljevic
CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models. PLoS computational biology 17 (1) (2021)
John D Odom, Hitha Amin, Charul Gijavanekar, Sarah H Elsea, Stephen Kralik, Javier Chinen, Yuezhen Lin, Amber Meshell Mayfield Yates, Elizabeth Mizerik, Lorraine Potocki, Fernando Scaglia
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. American journal of medical genetics. Part A (2021)
Wayne Thompson, Patrick Z Carey, Tyhiesia Donald, Beverly Nelson, Elizabeth J Bhoj, Dong Li, Hakon Hakonarson, Maricela Ramirez, Sarah H Elsea, Janice L Smith, John C Carey, Andrew K Sobering
Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family. Molecular genetics & genomic medicine 8 (8) (2020)
Alyssa Grygiel, Felicia Ikolo, Raphielle Stephen, Dawnell Bleasdille, Patricia Robbins-Furman, Beverly Nelson, Andrew K Sobering, Sarah H Elsea
Sickle cell disease in Grenada: Quality of life and barriers to care. Molecular genetics & genomic medicine 9 (1) (2020)
Sarah H Elsea, Alexander Solyom, Kirt Martin, Paul Harmatz, John Mitchell, Christina Lampe, Christina Grant, Laila Selim, Neslihan Oneli Mungan, Norberto Guelbert, Bo Magnusson, Erik Sundberg, Ratna Puri, Seema Kapoor, Nur Arslan, Maja DiRocco, Maha Zaki, Seza Ozen, Iman G Mahmoud, Karoline Ehlert, Andreas Hahn, Gulden Gokcay, Marta Torcoletti, Carlos R Ferreira
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Human mutation 41 (9) (2020)
Elizabeth G Ames, Kerri L Neville, Nancy A McNamara, Catherine E Keegan, Sarah H Elsea
Clinical Reasoning: A 12-month-old child with hypotonia and developmental delays. Neurology 95 (4) (2020)
Brian J Shayota, Claudia Soler-Alfonso, Mir Reza Bekheirnia, Elizabeth Mizerik, Suzy W Boyer, Rui Xiao, Yaping Yang, Sarah H Elsea, Fernando Scaglia
Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency. American journal of medical genetics. Part A 179 (5) (2019)
Gerarda Cappuccio, Taraka R Donti, Leroy Hubert, Qin Sun, Sarah H Elsea
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. Journal of inherited metabolic disease 42 (3) (2019)
Trang N Le, Stephen R Williams, Joseph T Alaimo, Sarah H Elsea
Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor. American journal of medical genetics. Part A 179 (5) (2019)
Gerarda Cappuccio, Michele Pinelli, Marianna Alagia, Taraka Donti, Debra-Lynn Day-Salvatore, Pierangelo Veggiotti, Valentina De Giorgis, Simona Lunghi, Maria Stella Vari, Pasquale Striano, Nicola Brunetti-Pierri, Adam D Kennedy, Sarah H Elsea
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet. PloS one 12 (9) (2017)
Joseph T Alaimo, Sureni V Mullegama, Mary Ann Thomas, Sarah H Elsea
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis. Molecular cytogenetics 8 (2015)

Sarah H Elsea.css-eqlu8i{font-size:small;padding-left:4px;} (Sarah Elsea)

Publication Activity (10 Years)

Top Topics

Top Venues

Sarah H Elsea (Sarah Elsea)