Anna C E Hurst (Anna Hurst, Anna C Hurst)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 14

Top Venues

American journal of medical genetics. Part A

European journal of human genetics : EJHG

American journal of medical genetics. Part C, Seminars in medical genetics

Molecular genetics & genomic medicine

University of Alabama at Birmingham

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

Affiliation History

University of Alabama at Birmingham

United States

Assistant Professor :: Department of Genetics

Publications

Meghan N Bartos, Anna C E Hurst, Caterina Abdala Villa
Direct-to-consumer genome sequencing helps a mother take her child's diagnostic odyssey into her own hands. American journal of medical genetics. Part C, Seminars in medical genetics (2024)
Dorothea Siebold, Jessica Denton, Anna C E Hurst, Irene Moss, Bruce Korf
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program. American journal of medical genetics. Part A (2023)
Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul-Hwan Lee, Shuo Zhang, Natália Padilla, Raquel Fueyo, Elisa A Waxman, Sunyimeng Lei, Garrett Otrimski, Dong Li, Sarah E Sheppard, Paul R Mark, Margaret H Harr, Hakon H Hakonarson, Lance Rodan, Adam Jackson, Pradeep Vasudevan, Corrina Powel, Shehla Mohammed, Sateesh Maddirevula, Hamad Alzaidan, Eissa A Faqeih, Stephanie Efthymiou, Valentina Turchetti, Fatima Rahman, Shazia Maqbool, Vincenzo Salpietro, Shahnaz H Ibrahim, Gabriella di Rosa, Henry Houlden, Maha Nasser Alharbi, Nouriya Abbas Al-Sannaa, Peter Bauer, Giovanni Zifarelli, Conchi Estaras, Anna C E Hurst, Michelle L Thompson, Anna Chassevent, Constance L Smith-Hicks, Xavier de la Cruz, Alexander M Holtz, Houda Zghal Elloumi, M J Hajianpour, Claudine Rieubland, Dominique Braun, Siddharth Banka, null null, Deborah L French, Elizabeth A Heller, Murielle Saade, Hongjun Song, Guo-Li Ming, Fowzan Sami Alkuraya, Pankaj B Agrawal, Danny Reinberg, Elizabeth J Bhoj, Marian A Martínez-Balbás, Naiara Akizu
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nature communications 14 (1) (2023)
Amy A Lemke, Michelle L Thompson, Emily C Gimpel, Katelyn C McNamara, Carla A Rich, Candice R Finnila, Meagan E Cochran, James M J Lawlor, Kelly M East, Kevin M Bowling, Donald R Latner, Susan M Hiatt, Michelle D Amaral, Whitley V Kelley, Veronica Greve, David E Gray, Stephanie A Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E Jackson, Laura Godfrey Hendon, Hillary M Janani, Marla Johnston, Lee Ann Merin, Sarah L Deans, Carly Tuura, Trent Hughes, Heather Williams, Kelly Laborde, Matthew B Neu, Jessica Patrick-Esteve, Anna C E Hurst, Brian M Kirmse, Renate Savich, Steven B Spedale, Sara J Knight, Gregory S Barsh, Bruce R Korf, Gregory M Cooper, Kyle B Brothers
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit. Journal of personalized medicine 13 (7) (2023)
Robert B Slocum, Anna C E Hurst, Ellis Shelley, Lisa Berry, Robert J Hopkin, Alyssa L Rippert, Elizabeth Bhoj, John M Graham, Katheryn Grand, Aixa Gonzalez, Yuri A Zarate
Listening to patients with suspected genetic diagnoses: A narrative perspective. American journal of medical genetics. Part C, Seminars in medical genetics (2023)
Eline A Verberne, Liselot van der Laan, Sadegheh Haghshenas, Kathleen Rooney, Michael A Levy, Mariëlle Alders, Saskia M Maas, Sandra Jansen, Agne Lieden, Britt-Marie Anderlid, Louise Rafael-Croes, Philippe M Campeau, Ayeshah Chaudhry, David A Koolen, Rolph Pfundt, Anna C E Hurst, Frederic Tran-Mau-Them, Ange-Line Bruel, Laetitia Lambert, Bertrand Isidor, Marcel M A M Mannens, Bekim Sadikovic, Peter Henneman, Mieke M van Haelst
DNA Methylation Signature for JARID2 -Neurodevelopmental Syndrome. International journal of molecular sciences 23 (14) (2022)
Robin Z Hayeems, Stephanie Luca, Anna C E Hurst, Meagan Cochran, Chelsea Owens, Alomgir Hossain, Lauren Chad, M Stephen Meyn, Eleanor Pullenayegum, Wendy J Ungar, David Bick
Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity. European journal of human genetics : EJHG 30 (12) (2022)
Kevin E Glinton, Anna C E Hurst, Kevin M Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, Oskar Schnappauf, David B Beck, Carole Brewer, Aditi Shah Parikh, Deepali N Shinde, Alan Donaldson, Ariel Brautbar, Saskia Koene, Arie van Haeringen, Amélie Piton, Yline Capri, Margherita Furlan, Elena Gardella, Rikke Steensbjerre Møller, Irma van de Beek, Linda Zuurbier, Phillis Lakeman, Allan Bayat, Julian A Martinez, Rebecca Signer, Pernille M Torring, Morten Buch Engelund, Karen W Gripp, Louise Amlie-Wolf, Lindsay B Henderson, Alina T Midro, Eugeniusz Tarasów, Beata Stasiewicz-Jarocka, Diana Moskal-Jasinska, Paul Vos, Felix Boschann, Corinna Stoltenburg, Oliver Puk, Inger-Lise Mero, Kristine Lossius, Cyril Mignot, Boris Keren, Johanna C Acosta Guio, Ignacio Briceño, Alberto Gomez, Yaping Yang, Przemyslaw Szafranski
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. American journal of medical genetics. Part A 185 (5) (2021)
Smrithi Salian, Marcello Scala, Thi Tuyet Mai Nguyen, Mariasavina Severino, Andrea Accogli, Elisabetta Amadori, Anna Laura Torella, Michele Pinelli, Beth Hudson, Megan Boothe, Anna C E Hurst, Tawfeg Ben-Omran, Martin Jakob Larsen, Christina R Fagerberg, Lene Sperling, Ieva Miceikaite, Lucas Hérissant, Martine Doco-Fenzy, Mélanie Jennesson, Vincenzo Nigro, Pasquale Striano, Carlo Minetti, Rani K Sachdev, Emma Elizabeth Palmer, Valeria Capra, Philippe M Campeau
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins. Clinical genetics 100 (5) (2021)
Matheus Augusto Araujo Castro, Juliana Heather Vedovato Dos Santos, Rachel Sayuri Honjo Kawahira, Guilherme Lopes Yamamoto, Debora Romeo Bertola, Anna C E Hurst, Lynn P Chorich, Lawrence C Layman, Chong Ae Kim, Hyung-Goo Kim
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome. American journal of medical genetics. Part A 185 (12) (2021)
Carole Le Coz, David N Nguyen, Chun Su, Brian E Nolan, Amanda V Albrecht, Suela Xhani, Di Sun, Benjamin Demaree, Piyush Pillarisetti, Caroline Khanna, Francis Wright, Peixin Amy Chen, Samuel Yoon, Amy L Stiegler, Kelly Maurer, James P Garifallou, Amy Rymaszewski, Steven H Kroft, Timothy S Olson, Alix E Seif, Gerald B Wertheim, Struan F A Grant, Linda T Vo, Jennifer M Puck, Kathleen E Sullivan, John M Routes, Viktoria Zakharova, Anna Shcherbina, Anna A Mukhina, Natasha L Rudy, Anna C E Hurst, T Prescott Atkinson, Titus J Boggon, Hakon H Hakonarson, Adam R Abate, Joud Hajjar, Sarah K Nicholas, James R. Lupski, James Verbsky, Ivan K Chinn, Michael V Gonzalez, Andrew D Wells, Alexander Marson, Gregory M K Poon, Neil Romberg
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. The Journal of experimental medicine 218 (7) (2021)
Shereen G Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pais, Chloe A Stutterd, Vasiliki Karageorgou, Amber Begtrup, Amy Crunk, Jane Juusola, Rebecca Willaert, Leigh A Flore, Kelly Kennelly, Christopher Spencer, Martha Brown, Pamela Trapane, Anna C E Hurst, S Lane Rutledge, Dana H Goodloe, Marie T McDonald, Vandana Shashi, Kelly Schoch, null null, Hoda Tomoum, Raghda Zaitoun, Zahra Hadipour, Hamid Galehdari, Alistair T Pagnamenta, Majid Mojarrad, Alireza Sedaghat, Patrícia Dias, Sofia Quintas, Atiyeh Eslahi, Gholamreza Shariati, Peter Bauer, Cas Simons, Henry Houlden, Mahmoud Y Issa, Maha Saad Zaki, Reza Maroofian, Joseph G Gleeson
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. European journal of human genetics : EJHG 29 (2) (2020)
Taylor Woodfin, Christine Stoops, Joseph B Philips, Edward Lose, Fady M Mikhail, Anna C E Hurst
Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion). Molecular genetics & genomic medicine 7 (8) (2019)
Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Miroslava Hancarova, Darina Prchalova, Marketa Havlovicova, Jan Prchal, Viktor Stránecký, Dwight K C Yim, Zöe Powis, Boris Keren, Caroline Nava, Mignot Cyril, Marlène Rio, Anya Revah-Politi, Parisa Hemati, Nicholas Stong, Alejandro D Iglesias, Sharon F Suchy, Rebecca Willaert, Ingrid M Wentzensen, Patricia G Wheeler, Lauren Brick, Mariya Kozenko, Anna C E Hurst, James W Wheless, Yves Lacassie, Richard M Myers, Gregory S Barsh, Zdenek Sedlacek, Gregory M Cooper
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. PLoS genetics 14 (11) (2018)

Anna C E Hurst.css-eqlu8i{font-size:small;padding-left:4px;} (Anna Hurst, Anna C Hurst)

Publication Activity (10 Years)

Top Topics

Top Venues

Anna C E Hurst (Anna Hurst, Anna C Hurst)