Works matching AU Sloan, Jennifer L.

Results: 12

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

Published in:

Nature Genetics, 2011, v. 43, n. 9, p. 883, doi. 10.1038/ng.908

By:

Sloan, Jennifer L.;
Johnston, Jennifer J.;
Manoli, Irini;
Chandler, Randy J.;
Krause, Caitlin;
Carrillo-Carrasco, Nuria;
Chandrasekaran, Suma D.;
Sysol, Justin R.;
O'Brien, Kevin;
Hauser, Natalie S.;
Sapp, Julie C.;
Dorward, Heidi M.;
Huizing, Marjan;
Barshop, Bruce A.;
Berry, Susan A.;
James, Philip M.;
Champaigne, Neena L.;
de Lonlay, Pascale;
Valayannopoulos, Vassilli;
Geschwind, Michael D.

Publication type:

Article

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2109, doi. 10.1093/hmg/ddaa044

By:

Sloan, Jennifer L;
Achilly, Nathan P;
Arnold, Madeline L;
Catlett, Jerrel L;
Blake, Trevor;
Bishop, Kevin;
Jones, Marypat;
Harper, Ursula;
English, Milton A;
Anderson, Stacie;
Trivedi, Niraj S;
Elkahloun, Abdel;
Hoffmann, Victoria;
Brooks, Brian P;
Sood, Raman;
Venditti, Charles P

Publication type:

Article

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2075, doi. 10.1002/ajmg.a.37127

By:

Ktena, Yiouli P.;
Paul, Scott M.;
Hauser, Natalie S.;
Sloan, Jennifer L.;
Gropman, Andrea;
Manoli, Irini;
Venditti, Charles P.

Publication type:

Article

ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.

Published in:

2022

By:

Sumathipala, Dulika;
Strømme, Petter;
Fattahi, Zohreh;
Lüders, Torben;
Sheng, Ying;
Kahrizi, Kimia;
Einarsen, Ingunn Holm;
Sloan, Jennifer L;
Najmabadi, Hossein;
van den Heuvel, Lambert;
Wevers, Ron A;
Guerrero-Castillo, Sergio;
Mørkrid, Lars;
Valayannopoulos, Vassili;
Backe, Paul Hoff;
Venditti, Charles P;
Karnebeek, Clara D van;
Nilsen, Hilde;
Frengen, Eirik;
Misceo, Doriana

Publication type:

journal article

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 554, doi. 10.1002/jimd.12636

By:

Manoli, Irini;
Gebremariam, Abigael;
McCoy, Samantha;
Pass, Alexandra R.;
Gagné, Jack;
Hall, Camryn;
Ferry, Susan;
Van Ryzin, Carol;
Sloan, Jennifer L.;
Sacchetti, Elisa;
Catesini, Giulio;
Rizzo, Cristiano;
Martinelli, Diego;
Spada, Marco;
Dionisi‐Vici, Carlo;
Venditti, Charles P.

Publication type:

Article

High‐dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.

Published in:

Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 17, doi. 10.1002/jmd2.12087

By:

Higashimoto, Tomoyasu;
Kim, Alexander Y.;
Ogawa, Jessica T.;
Sloan, Jennifer L.;
Almuqbil, Mohammed A.;
Carlson, Julia M.;
Manoli, Irini;
Venditti, Charles P.;
Gunay‐Aygun, Meral;
Wang, Tao

Publication type:

Article

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1621

By:

Gabriel, Marie Cosette;
Rice, Stephanie M.;
Sloan, Jennifer L.;
Mossayebi, Matthew H.;
Venditti, Charles P.;
Al‐Kouatly, Huda B.

Publication type:

Article

The Relative Difficulty of ABLA Level 2 and Two-Position Discriminations for Persons with Intellectual Disabilities: A Pilot Study.

Published in:

Journal on Developmental Disabilities, 2014, v. 20, n. 1, p. 102

By:

Sloan, Jennifer L.;
Martin, Toby L.;
Martin, Garry L.;
Yu, Dickie C. T.;
Kulsoom, Sayada;
Murphy, Colleen

Publication type:

Article

The More the Scarier: Adult Richardson’s Ground Squirrels ( Spermophilus richardsonii) Assess Response Urgency Via the Number of Alarm Signallers.

Published in:

Ethology, 2008, v. 114, n. 5, p. 436, doi. 10.1111/j.1439-0310.2008.01479.x

By:

Sloan, Jennifer L.;
Hare, James F.

Publication type:

Article

Adult Richardson's Ground Squirrels ( Spermophilus richardsonii) Ignore Rate Changes in Juvenile Alarm Calls: Age-Differential Response Urgency Perception?

Published in:

Ethology, 2006, v. 112, n. 9, p. 896, doi. 10.1111/j.1439-0310.2006.01235.x

By:

Sloan, Jennifer L.;
Hare, James F.

Publication type:

Article

Monotony and the Information Content of Richardson's Ground Squirrel ( Spermophilus richardsonii) Repeated calls: Tonic Communication or Signal Certainty?

Published in:

Ethology, 2004, v. 110, n. 2, p. 147, doi. 10.1111/j.1439-0310.2003.00955.x

By:

Sloan, Jennifer L.;
Hare, James F.

Publication type:

Article

Genetic Modifiers of Neurofibromatosis Type 1-Associated Café-au-Lait Macule Count Identified Using Multi-platform Analysis.

Published in:

PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004575

By:

Pemov, Alexander;
Sung, Heejong;
Hyland, Paula L.;
Sloan, Jennifer L.;
Ruppert, Sarah L.;
Baldwin, Andrea M.;
Boland, Joseph F.;
Bass, Sara E.;
Lee, Hyo Jung;
Jones, Kristine M.;
Zhang, Xijun;
Mullikin, James C.;
Widemann, Brigitte C.;
Wilson, Alexander F.;
Stewart, Douglas R.

Publication type:

Article