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1.

GM1 gangliosidosis type II: Results of a 10-year prospective study.

D'Souza, Precilla; Farmer, Cristan; Johnston, Jean M; Han, Sangwoo T; Adams, David; Hartman, Adam L; Zein, Wadih; Huryn, Laryssa A; Solomon, Beth; King, Kelly; Jordan, Christopher P; Myles, Jennifer; Nicoli, Elena-Raluca; Rothermel, Caroline E; Mojica Algarin, Yoliann; Huang, Reyna; Quimby, Rachel; Zainab, Mosufa; Bowden, Sarah; Crowell, Anna; Buckley, Ashura; Brewer, Carmen; Regier, Debra S; Brooks, Brian P; Acosta, Maria T; Baker, Eva H; Vézina, Gilbert; Thurm, Audrey; Tifft, Cynthia J.

Genet Med ; 26(7): 101144, 2024 Apr 16.

Article in English | MEDLINE | ID: mdl-38641994

2.

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

Calame, Daniel G; Moreno Vadillo, Cristina; Berger, Seth; Lotze, Timothy; Shinawi, Marwan; Poupak, Javaher; Heller, Corina; Cohen, Julie; Person, Richard; Telegrafi, Aida; Phitsanuwong, Chalongchai; Fiala, Kaylene; Thiffault, Isabelle; Del Viso, Florencia; Zhou, Dihong; Fleming, Emily A; Pastinen, Tomi; Fatemi, Ali; Thomas, Sruthi; Pascual, Samuel I; Torres, Rosa J; Prior, Carmen; Gómez-González, Clara; Biskup, Saskia; Lupski, James R; Maric, Dragan; Holmgren, Miguel; Regier, Debra; Yano, Sho T.

Brain ; 146(8): 3162-3171, 2023 08 01.

Article in English | MEDLINE | ID: mdl-37043503

3.

Hyperammonemia in the Pediatric Emergency Department.

Rojas, Christina R; Chapman, Jennifer; Regier, Debra.

Pediatr Emerg Care ; 40(2): 156-161, 2024 Feb 01.

Article in English | MEDLINE | ID: mdl-38295195

4.

Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum.

Bosfield, Kerri; Albert, Jessica; Cheng, Nancy; Swaringer, Tiffany; Cusmano-Ozog, Kristina; Regier, Debra S.

Genet Med ; 25(2): 100340, 2023 02.

Article in English | MEDLINE | ID: mdl-36484781

5.

Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.

Berger, Seth I; Pitsava, Georgia; Cohen, Andrea J; Délot, Emmanuèle C; LoTempio, Jonathan; Andrew, Erin Hallie; Martin, Gloria Mas; Marmolejos, Sofia; Albert, Jessica; Meltzer, Beatrix; Fraser, Jamie; Regier, Debra S; Kahn-Kirby, Amanda H; Smith, Erica; Knoblach, Susan; Ko, Arthur; Fusaro, Vincent A; Vilain, Eric.

Clin Genet ; 104(3): 377-383, 2023 09.

Article in English | MEDLINE | ID: mdl-37194472

6.

The past, present, and future of child growth monitoring: A review and primer for clinical genetics.

Shur, Natasha; Tigranyan, Annie; Daymont, Carrie; Regier, Debra S; Raturi, Sumant; Roshan Lal, Tamanna; Cleary, Kevin; Summar, Marshall.

Am J Med Genet A ; 191(4): 948-961, 2023 04.

Article in English | MEDLINE | ID: mdl-36708136

7.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

Grünert, Sarah C; Derks, Terry G J; Adrian, Katarina; Al-Thihli, Khalid; Ballhausen, Diana; Bidiuk, Joanna; Bordugo, Andrea; Boyer, Monica; Bratkovic, Drago; Brunner-Krainz, Michaela; Burlina, Alberto; Chakrapani, Anupam; Corpeleijn, Willemijn; Cozens, Alison; Dawson, Charlotte; Dhamko, Helena; Milosevic, Maja Djordjevic; Eiroa, Hernan; Finezilber, Yael; Moura de Souza, Carolina Fischinger; Garcia-Jiménez, Maria Concepción; Gasperini, Serena; Haas, Dorothea; Häberle, Johannes; Halligan, Rebecca; Fung, Law Hiu; Hörbe-Blindt, Alexandra; Horka, Laura Maria; Huemer, Martina; Uçar, Sema Kalkan; Kecman, Bozica; Kilavuz, Sebile; Kriván, Gergely; Lindner, Martin; Lüsebrink, Natalia; Makrilakis, Konstantinos; Mei-Kwun Kwok, Anne; Maier, Esther M; Maiorana, Arianna; McCandless, Shawn E; Mitchell, John James; Mizumoto, Hiroshi; Mundy, Helen; Ochoa, Carlos; Pierce, Kathryn; Fraile, Pilar Quijada; Regier, Debra; Rossi, Alessandro; Santer, René; Schuman, Hester C.

Genet Med ; 24(8): 1781-1788, 2022 08.

Article in English | MEDLINE | ID: mdl-35503103

8.

Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers.

Cohen, Andrea J; Shur, Natasha; Starin, Danielle; MacLeod, Erin; Roshan Lal, Tamanna; Leon, Eyby; Regier, Debra S.

Am J Med Genet C Semin Med Genet ; 187(1): 55-63, 2021 03.

Article in English | MEDLINE | ID: mdl-33427371

9.

Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.

Bosfield, Kerri; Regier, Debra S; Viall, Sarah; Hicks, Rebecca; Shur, Natasha; Grant, Christina L.

Am J Med Genet A ; 185(1): 134-140, 2021 01.

Article in English | MEDLINE | ID: mdl-33098355

10.

Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19.

Shur, Natasha; Atabaki, Shireen M; Kisling, Monisha S; Tabarani, Abir; Williams, Clarence; Fraser, Jamie L; S Regier, Debra; Summar, Marshall.

Am J Med Genet A ; 185(1): 68-72, 2021 01.

Article in English | MEDLINE | ID: mdl-33051968

11.

Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.

Summerlin, Maxwell L; Regier, Debra S; Fraser, Jamie L; Chapman, Kimberly A; Kafashzadeh, Dariush; Billington, Charles; Kisling, Monisha; Grochowsky, Angela; Ah Mew, Nicholas; Shur, Natasha.

Am J Med Genet A ; 185(2): 500-507, 2021 02.

Article in English | MEDLINE | ID: mdl-33300687

12.

Medical genetics education in the midst of the COVID-19 pandemic: Shared resources.

Regier, Debra S; Smith, Wendy E; Byers, Heather M.

Am J Med Genet A ; 182(6): 1302-1308, 2020 06.

Article in English | MEDLINE | ID: mdl-32323908

13.

The clinical geneticist workforce: Community forums to address challenges and opportunities.

Chung, Wendy K; Dasgupta, Shoumita; Regier, Debra S; Solomon, Benjamin D.

Genet Med ; 26(6): 101121, 2024 Jun.

Article in English | MEDLINE | ID: mdl-38469792

14.

Inborn Errors of Metabolism: From Preconception to Adulthood.

Kruszka, Paul; Regier, Debra.

Am Fam Physician ; 99(1): 25-32, 2019 01 01.

Article in English | MEDLINE | ID: mdl-30600976

15.

Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model.

Gray-Edwards, Heather L; Regier, Debra S; Shirley, Jamie L; Randle, Ashley N; Salibi, Nouha; Thomas, Sarah E; Latour, Yvonne L; Johnston, Jean; Golas, Gretchen; Maguire, Annie S; Taylor, Amanda R; Sorjonen, Donald C; McCurdy, Victoria J; Christopherson, Peter W; Bradbury, Allison M; Beyers, Ronald J; Johnson, Aime K; Brunson, Brandon L; Cox, Nancy R; Baker, Henry J; Denney, Thomas S; Sena-Esteves, Miguel; Tifft, Cynthia J; Martin, Douglas R.

Mol Ther ; 25(4): 892-903, 2017 04 05.

Article in English | MEDLINE | ID: mdl-28236574

16.

Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient.

Ekong, Udeme D; Reddy, Sahithi; Yazigi, Nada; Khan, Khalid; Kaufman, Stuart; Chapman, Kimberly A; Leon, Eyby; Mew, Nicholas Ah; Regier, Debra; MacLeod, Erin; Kroemer, Alexander; Girlanda, Raffaelle; Hawksworth, Jason; Matsumoto, Cal S; Fishbein, Thomas M.

Liver Transpl ; 28(12): 1947-1950, 2022 12.

Article in English | MEDLINE | ID: mdl-35689402

17.

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

Regier, Debra S; Kwon, Hyuk Joon; Johnston, Jean; Golas, Gretchen; Yang, Sandra; Wiggs, Edythe; Latour, Yvonne; Thomas, Sarah; Portner, Cindy; Adams, David; Vezina, Gilbert; Baker, Eva H; Tifft, Cynthia J.

Am J Med Genet A ; 170(3): 634-44, 2016 Mar.

Article in English | MEDLINE | ID: mdl-26646981

18.

The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.

Regier, Debra S; Proia, Richard L; D'Azzo, Alessandra; Tifft, Cynthia J.

Pediatr Endocrinol Rev ; 13 Suppl 1: 663-73, 2016 Jun.

Article in English | MEDLINE | ID: mdl-27491214

19.

The biochemical village: How it can flourish and thrive.

Regier, Debra S.

Mol Genet Metab ; 130(3): 162-163, 2020 07.

Article in English | MEDLINE | ID: mdl-32444227

20.

A pandemic will not stop metabolic innovation.

MacLeod, Erin; Starin, Danielle; Ah Mew, Nicholas; Regier, Debra S.

Mol Genet Metab ; 130(4): 225-226, 2020 08.

Article in English | MEDLINE | ID: mdl-32461011

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