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Computerized Working Memory Training for Children With Neurofibromatosis Type I (NFI): A Pilot Study.
Published in:
Journal of Child Neurology, 2021, v. 36, n. 12, p. 1078, doi. 10.1177/08830738211038083
By:
- Hardy, Kristina K.;
- Berger, Carly;
- Griffin, Danielle;
- Walsh, Karin S.;
- Sharkey, Christina M.;
- Weisman, Hannah;
- Gioia, Anthony;
- Packer, Roger J.;
- Acosta, Maria T.
Publication type:
Article
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.
Published in:
Journal of Genetic Counseling, 2022, v. 31, n. 2, p. 326, doi. 10.1002/jgc4.1493
By:
- Kohler, Jennefer N.;
- Kelley, Emily G.;
- Boyd, Brenna M.;
- Sillari, Catherine H.;
- Marwaha, Shruti;
- Wheeler, Matthew T.;
- Acosta, Maria T;
- Adam, Margaret;
- Adams, David R;
- Agrawal, Pankaj B;
- Alejandro, Mercedes E;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A;
- Azamian, Mahshid S;
- Bacino, Carlos A;
- Bademci, Guney;
- Baker, Eva;
- Balasubramanyam, Ashok
Publication type:
Article
Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
Published in:
Journal of Genetic Counseling, 2022, v. 31, n. 1, p. 59, doi. 10.1002/jgc4.1451
By:
- McConkie‐Rosell, Allyn;
- Schoch, Kelly;
- Sullivan, Jennifer;
- Spillmann, Rebecca C.;
- Cope, Heidi;
- Tan, Queenie K.‐G.;
- Palmer, Christina G. S.;
- Hooper, Stephen R.;
- Shashi, Vandana;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.
Publication type:
Article
Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
Published in:
Journal of Genetic Counseling, 2021, v. 30, n. 2, p. 439, doi. 10.1002/jgc4.1329
By:
- Studwell, Courtney M.;
- Kelley, Emily G.;
- Sinsheimer, Janet S.;
- Palmer, Christina G. S.;
- LeBlanc, Kimberly;
- Acosta, Maria T;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Baker, Eva;
- Balasubramanyam, Ashok;
- Baldridge, Dustin
Publication type:
Article
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
Published in:
Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1892
By:
- Borja, Nicholas;
- Bivona, Stephanie;
- Peart, Lé Shon;
- Johnson, Brittany;
- Gonzalez, Joanna;
- Barbouth, Deborah;
- Moore, Henry;
- Guo, Shengru;
- Bademci, Guney;
- Tekin, Mustafa;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.
Publication type:
Article
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1665
By:
- Cope, Heidi;
- Barseghyan, Hayk;
- Bhattacharya, Surajit;
- Fu, Yulong;
- Hoppman, Nicole;
- Marcou, Cherisse;
- Walley, Nicole;
- Rehder, Catherine;
- Deak, Kristen;
- Alkelai, Anna;
- Vilain, Eric;
- Shashi, Vandana;
- Acosta, Maria T;
- Adam, Margaret;
- Adams, David R;
- Agrawal, Pankaj B;
- Alejandro, Mercedes E;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley
Publication type:
Article
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1692
By:
- Sturrock, Beattie R. H.;
- Macnamara, Ellen F.;
- McGuire, Peter;
- Kruk, Shannon;
- Yang, Ivan;
- Murphy, Jennifer;
- Tifft, Cyndi J.;
- Gordon‐Lipkin, Eliza;
- Acosta, Maria T;
- Adam, Margaret;
- Adams, David R;
- Agrawal, Pankaj B;
- Alejandro, Mercedes E;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A;
- Azamian, Mahshid S;
- Bacino, Carlos A;
- Bademci, Guney
Publication type:
Article
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1544
By:
- Meissner, Laura E.;
- Macnamara, Ellen F.;
- D'Souza, Precilla;
- Yang, John;
- Vezina, Gilbert;
- Ferreira, Carlos R.;
- Zein, Wadih M.;
- Tifft, Cynthia J.;
- Adams, David R.;
- Acosta, Maria T.;
- Adam, Margaret;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Bademci, Guney
Publication type:
Article
Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).
Published in:
2016
By:
- Morris, Stephanie M.;
- Acosta, Maria T.;
- Garg, Shruti;
- Green, Jonathan;
- Huson, Susan;
- Legius, Eric;
- North, Kathryn N.;
- Payne, Jonathan M.;
- Plasschaert, Ellen;
- Frazier, Thomas W.;
- Weiss, Lauren A.;
- Yi Zhang;
- Gutmann, David H.;
- Constantino, John N.;
- Zhang, Yi
Publication type:
journal article
Mutations in sphingolipid metabolism genes are associated with ADHD.
Published in:
Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-00881-8
By:
- Henriquez-Henriquez, Marcela;
- Acosta, Maria T.;
- Martinez, Ariel F.;
- Vélez, Jorge I.;
- Lopera, Francisco;
- Pineda, David;
- Palacio, Juan D.;
- Quiroga, Teresa;
- Worgall, Tilla S.;
- Deckelbaum, Richard J.;
- Mastronardi, Claudio;
- Molina, Brooke S. G.;
- the MTA Cooperative Group;
- Vitiello, Benedetto;
- Severe, Joanne B.;
- Jensen, Peter S.;
- Arnold, L. Eugene;
- Hoagwood, Kimberly;
- Richters, John;
- Vereen, Donald R.
Publication type:
Article
Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63798
By:
- McNamee, Lucy;
- Schoch, Kelly;
- Huang, Alden;
- Lee, Hane;
- Wang, Lee‐kai;
- Smith, Edward C.;
- Lark, Robert K.;
- Buckley, Anne F.;
- Jobanputra, Vaidehi;
- Nelson, Stanley F.;
- Shashi, Vandana;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Al‐Beshri, Ali;
- Allenspach, Eric;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley
Publication type:
Article
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63627
By:
- Stellacci, Emilia;
- Carter, Jennefer N.;
- Pannone, Luca;
- Stevenson, David;
- Moslehi, Dorsa;
- Venanzi, Serenella;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Al‐Beshri, Ali;
- Allenspach, Eric;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley;
- Ashley, Euan A.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Balasubramanyam, Ashok;
- Baldridge, Dustin
Publication type:
Article
EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63556
By:
- Forghani, Irman;
- Lang, Steven H.;
- Rodier, Matthew J.;
- Bivona, Stephanie A.;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Baker, Eva;
- Balasubramanyam, Ashok;
- Baldridge, Dustin;
- Bale, Jim
Publication type:
Article
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 17, doi. 10.1002/ajmg.a.63399
By:
- Ward, Scott K.;
- Wadley, Alexandrea;
- Tsai, Chun‐hui;
- Benke, Paul J.;
- Emrick, Lisa;
- Fisher, Kristen;
- Houck, Kimberly M.;
- Dai, Hongzheng;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Balasubramanyam, Ashok;
- Baldridge, Dustin
Publication type:
Article
H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1911, doi. 10.1002/ajmg.a.63193
By:
- Borja, Nicholas;
- Borjas‐Mendoza, Paulo;
- Bivona, Stephanie;
- Peart, LéShon;
- Gonzalez, Joanna;
- Johnson, Brittney Keira;
- Guo, Shengru;
- Yusupov, Roman;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Bademci, Guney
Publication type:
Article
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 563, doi. 10.1002/ajmg.a.36312
By:
- Widemann, Brigitte C.;
- Acosta, Maria T.;
- Ammoun, Sylvia;
- Belzberg, Allan J.;
- Bernards, Andre;
- Blakeley, Jaishri;
- Bretscher, Antony;
- Cichowski, Karen;
- Clapp, D. Wade;
- Dombi, Eva;
- Evans, Gareth D.;
- Ferner, Rosalie;
- Fernandez‐Valle, Cristina;
- Fisher, Michael J.;
- Giovannini, Marco;
- Gutmann, David H.;
- Hanemann, C. Oliver;
- Hennigan, Robert;
- Huson, Susan;
- Ingram, David
Publication type:
Article
Corrigendum to 'The Learning Disabilities Network (LeaDNet): Using Neurofibromatosis Type 1 [NF1] as a Paradigm for Translational Research'.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 236, doi. 10.1002/ajmg.a.35667
By:
- Acosta, Maria T.;
- Bearden, Carrie E.;
- Castellanos, Xavier F.;
- Cutting, Laurie;
- Elgersma, Ype;
- Gioia, Gerard;
- Gutmann, David H.;
- Lee, Yong‐Seok;
- Legius, Eric;
- Muenke, Maximillian;
- North, Kathryn;
- Parada, Luis F.;
- Ratner, Nancy;
- Hunter‐Schaedle, Kim;
- Silva, Alcino J.
Publication type:
Article
The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2225, doi. 10.1002/ajmg.a.35535
By:
- Acosta, Maria T.;
- Bearden, Carrie E.;
- Castellanos, Xavier F.;
- Cutting, Laurie;
- Elgersma, Ype;
- Gioia, Gerard;
- Gutmann, David H.;
- Lee, Yong-Seok;
- Legius, Eric;
- Muenke, Maximillian;
- North, Kathryn;
- Parada, Luis F.;
- Ratner, Nancy;
- Hunter-Schaedle, Kim;
- Silva, Alcino J.
Publication type:
Article
An executive functioning perspective in neurofibromatosis type 1: from ADHD and autism spectrum disorder to research domains.
Published in:
Child's Nervous System, 2020, v. 36, n. 10, p. 2321, doi. 10.1007/s00381-020-04745-w
By:
- Smith, Taylor F.;
- Kaczorowski, Jessica A.;
- Acosta, Maria T.
Publication type:
Article
Searching for molecular-targeted interventions for NF1 cognitive deficits in the classroom.
Published in:
2015
By:
- Acosta, Maria T
Publication type:
journal article
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1.
Published in:
Developmental Medicine & Child Neurology, 2013, v. 55, n. 2, p. 131, doi. 10.1111/dmcn.12038
By:
- WALSH, KARIN S;
- VÉLEZ, JORGE I;
- KARDEL, PETER G;
- IMAS, DANIEL M;
- MUENKE, MAXIMILIAN;
- PACKER, ROGER J;
- CASTELLANOS, FRANCISCO X;
- ACOSTA, MARIA T
Publication type:
Article
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Published in:
NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-022-00343-8
By:
- Morimoto, Marie;
- Bhambhani, Vikas;
- Gazzaz, Nour;
- Davids, Mariska;
- Sathiyaseelan, Paalini;
- Macnamara, Ellen F.;
- Lange, Jennifer;
- Lehman, Anna;
- Zerfas, Patricia M.;
- Murphy, Jennifer L.;
- Acosta, Maria T.;
- Wang, Camille;
- Alderman, Emily;
- Undiagnosed Diseases Network;
- Adam, Margaret;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.
Publication type:
Article
Participation in a national diagnostic research study: assessing the patient experience.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02695-5
By:
- Rosenfeld, Lindsay E.;
- LeBlanc, Kimberly;
- Nagy, Anna;
- Ego, Braeden K.;
- The Undiagnosed Diseases Network;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Balasubramanyam, Ashok;
- Baldridge, Dustin;
- Bale, Jim;
- Bamshad, Michael;
- Barbouth, Deborah
Publication type:
Article
Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients.
Published in:
Frontiers in Neuroimaging, 2024, p. 1, doi. 10.3389/fnimg.2024.1410848
By:
- Zoppo, Christopher;
- Kolstad, Josephine;
- Johnston, Jean;
- D'Souza, Precilla;
- Kühn, Anna Luisa;
- Vardar, Zeynep;
- Peker, Ahmet;
- Lindsay, Clifford;
- Rentiya, Zubir S.;
- King, Robert;
- Gray-Edwards, Heather;
- Vachha, Behroze;
- Acosta, Maria T.;
- Tifft, Cynthia J.;
- Shazeeb, Mohammed Salman
Publication type:
Article
Cognition, ADHD Symptoms, and Functional Impairment in Children and Adolescents With Neurofibromatosis Type 1.
Published in:
2021
By:
- Payne, Jonathan M.;
- Haebich, Kristina M.;
- MacKenzie, Rachel;
- Walsh, Karin S.;
- Hearps, Stephen J. C.;
- Coghill, David;
- Barton, Belinda;
- Pride, Natalie A.;
- Ullrich, Nicole J.;
- Tonsgard, James H.;
- Viskochil, David;
- Schorry, Elizabeth K.;
- Klesse, Laura;
- Fisher, Michael J.;
- Gutmann, David H.;
- Rosser, Tena;
- Packer, Roger J.;
- Korf, Bruce;
- Acosta, Maria T.;
- Bellgrove, Mark A.
Publication type:
journal article
Handheld Optical Coherence Tomography During Sedation in Young Children With Optic Pathway Gliomas.
Published in:
JAMA Ophthalmology, 2014, v. 132, n. 3, p. 265, doi. 10.1001/jamaophthalmol.2013.7649
By:
- Avery, Robert A.;
- Hwang, Eugene I.;
- Hiroshi Ishikawa;
- Acosta, Maria T.;
- Hutcheson, Kelly A.;
- Santos, Domiciano;
- Zand, Dina J.;
- Kilburn, Lindsay B.;
- Rosenbaum, Kenneth N.;
- Rood, Brian R.;
- Schuman, Joel S.;
- Packer, Roger J.
Publication type:
Article
Ensuring Stakeholder Feedback in the Design and Conduct of Clinical Trials for Rare Diseases: ISCTM Position Paper of the Orphan Disease Working Group.
Published in:
Innovations in Clinical Neuroscience, 2024, v. 21, n. 1-3, p. 52
By:
- PANDINA, GAHAN J.;
- BUSNER, JOAN;
- KEMPF, LUCAS;
- FALLON, JOAN;
- ALPHS, LARRY D.;
- ACOSTA, MARIA T.;
- BERGER, ANNA-KARIN;
- DAY, SIMON;
- DUNN, JUDITH;
- VILLALTA-GIL, VICTORIA;
- GRABB, MARGARET C.;
- HORRIGAN, JOSEPH P.;
- JACOBSON, WILLIAM;
- KANDO, JUDITH C.;
- MACEK, THOMAS A.;
- SINGH, MANPREET K.;
- STANFORD, ARIELLE D.;
- ZARAGOZA DOMINGO, SILVIA
Publication type:
Article
Clinician- and Patient-reported Endpoints in CNS Orphan Drug Clinical Trials: ISCTM Position Paper on Best Practices for Endpoint Selection, Validation, Training, and Standardization.
Published in:
Innovations in Clinical Neuroscience, 2021, v. 18, n. 10-12, p. 15
By:
- BUSNER, JOAN;
- PANDINA, GAHAN;
- ZARAGOZA DOMINGO, SILVIA;
- BERGER, ANNA-KARIN;
- ACOSTA, MARIA T.;
- FISSEHA, NAHOME;
- HORRIGAN, JOSEPH;
- IVKOVIC, JELENA;
- JACOBSON, WILLIAM;
- REVICKI, DENNIS;
- VILLALTAGIL, VICTORIA
Publication type:
Article
Continuing a search for a diagnosis: the impact of adolescence and family dynamics.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-022-02598-x
By:
- Miller, Ilana M.;
- Yashar, Beverly M.;
- Undiagnosed Disease Network;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Baker, Eva;
- Balasubramanyam, Ashok;
- Baldridge, Dustin;
- Bale, Jim;
- Bamshad, Michael;
- Barbouth, Deborah
Publication type:
Article
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
Published in:
BMC Genomics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12864-023-09935-9
By:
- Lu, Jinfeng;
- Toro, Camilo;
- Adams, David R.;
- Acosta, Maria T.;
- Adam, Margaret;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Balasubramanyam, Ashok;
- Baldridge, Dustin;
- Bale, Jim;
- Bamshad, Michael;
- Barbouth, Deborah;
- Bayrak-Toydemir, Pinar;
- Beck, Anita;
- Beggs, Alan H.
Publication type:
Article
VarSight: prioritizing clinically reported variants with binary classification algorithms.
Published in:
BMC Bioinformatics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12859-019-3026-8
By:
- Holt, James M.;
- Wilk, Brandon;
- Birch, Camille L.;
- Brown, Donna M.;
- Gajapathy, Manavalan;
- Moss, Alexander C.;
- Sosonkina, Nadiya;
- Wilk, Melissa A.;
- Anderson, Julie A.;
- Harris, Jeremy M.;
- Kelly, Jacob M.;
- Shaterferdosian, Fariba;
- Uno-Antonison, Angelina E.;
- Weborg, Arthur;
- Undiagnosed Diseases Network;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.
Publication type:
Article
Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery.
Published in:
Birth Defects Research, 2019, v. 111, n. 19, p. 1584, doi. 10.1002/bdr2.1609
By:
- Kruszka, Paul;
- Buscetta, Ashley;
- Acosta, Maria T.;
- Banks, Nicole;
- Addissie, Yonit A.;
- Toro, Camilo;
- Luby, Marie;
- Latour, Lawrence;
- Vezina, Gilbert;
- Page, David C.;
- Muenke, Maximilian
Publication type:
Article
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
Published in:
2024
By:
- Dohrn, Maike F.;
- Bademci, Guney;
- Rebelo, Adriana P.;
- Jeanne, Médéric;
- Borja, Nicholas A.;
- Beijer, Danique;
- Danzi, Matt C.;
- Bivona, Stephanie A.;
- Gueguen, Paul;
- Zafeer, Mohammad F.;
- Tekin, Mustafa;
- Züchner, Stephan;
- Acosta, Maria T.;
- Adams, David R.;
- Afzali, Ben;
- Allworth, Aimee;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Andrews, Ashley;
- Ashley, Euan A.
Publication type:
Case Study
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 629, doi. 10.1002/acn3.51983
By:
- Donkervoort, Sandra;
- Mohassel, Payam;
- O'Leary, Melanie;
- Bonner, Devon E.;
- Hartley, Taila;
- Acquaye, Nicole;
- Brull, Astrid;
- Mozaffar, Tahseen;
- Saporta, Mario A.;
- Dyment, David A.;
- Sampson, Jacinda B.;
- Pajusalu, Sander;
- Austin‐Tse, Christina;
- Hurth, Kyle;
- Cohen, Julie S.;
- McWalter, Kirsty;
- Warman‐Chardon, Jodi;
- Crunk, Amy;
- Foley, A. Reghan;
- Acosta, Maria T.
Publication type:
Article
Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision.
Published in:
2021
By:
- Baldridge, Dustin;
- Wangler, Michael F.;
- Bowman, Angela N.;
- Yamamoto, Shinya;
- Undiagnosed Diseases Network;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Agrawal, Pankaj B.;
- Alejandro, Mercedes E.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Azamian, Mahshid S.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Baker, Eva;
- Balasubramanyam, Ashok;
- Bale, Jim
Publication type:
journal article
Succinic semialdehyde dehydrogenase deficiency in children and adults.
Published in:
Annals of Neurology, 2003, v. 54, n. s6, p. S73
By:
- Phillip L. Pearl;
- Edward J. Novotny;
- Maria T. Acosta;
- Cornelis Jakobs;
- K. Michael Gibson
Publication type:
Article
Autism in neurofibromatosis type 1: misuse of covariance to dismiss autistic trait burden.
Published in:
Developmental Medicine & Child Neurology, 2021, v. 63, n. 2, p. 233, doi. 10.1111/dmcn.14653
By:
- Morris, Stephanie M;
- Acosta, Maria T;
- Garg, Shruti;
- Green, Jonathan;
- Legius, Eric;
- North, Kathryn;
- Payne, Jonathan M;
- Weiss, Lauren A;
- Constantino, John N;
- Gutmann, David H
Publication type:
Article
ADGRL3 ( LPHN3) variants are associated with a refined phenotype of ADHD in the MTA study.
Published in:
Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 540, doi. 10.1002/mgg3.230
By:
- Acosta, Maria T.;
- Swanson, James;
- Stehli, Annamarie;
- Molina, Brooke S. G.;
- Martinez, Ariel F.;
- Arcos‐Burgos, Mauricio;
- Muenke, Maximilian
Publication type:
Article
Breast cancer risk and germline genomic profiling of women with neurofibromatosis type 1 who developed breast cancer.
Published in:
Genes, Chromosomes & Cancer, 2018, v. 57, n. 1, p. 19, doi. 10.1002/gcc.22503
By:
- Wang, Xia;
- Teer, Jamie K.;
- Tousignant, Renee N.;
- Levin, Albert M.;
- Boulware, David;
- Chitale, Dhananjay A.;
- Shaw, Brandon M.;
- Chen, Zhihua;
- Zhang, Yonghong;
- Blakeley, Jaishri O.;
- Acosta, Maria T.;
- Messiaen, Ludwine M.;
- Korf, Bruce R.;
- Tainsky, Michael A.
Publication type:
Article
Back to the future: Proceedings from the 2010 NF Conference.
Published in:
2011
By:
- Huson, Susan M.;
- Acosta, Maria T.;
- Belzberg, Allan J.;
- Bernards, Andre;
- Chernoff, Jonathan;
- Cichowski, Karen;
- Gareth Evans, D.;
- Ferner, Rosalie E.;
- Giovannini, Marco;
- Korf, Bruce R.;
- Listernick, Robert;
- North, Kathryn N.;
- Packer, Roger J.;
- Parada, Luis F.;
- Peltonen, Juha;
- Ramesh, Vijaya;
- Reilly, Karlyne M.;
- Risner, John W.;
- Schorry, Elizabeth K.;
- Upadhyaya, Meena
Publication type:
Other
Cerebellar Atrophy in Human and Murine Succinic Semialdehyde Dehydrogenase Deficiency.
Published in:
Journal of Child Neurology, 2010, v. 25, n. 12, p. 1457, doi. 10.1177/0883073810368137
By:
- Acosta, Maria T.;
- Munasinghe, Jeeva;
- Pearl, Phillip L.;
- Gupta, Maneesh;
- Finegersh, Andrey;
- Gibson, K. Michael;
- Theodore, William H.
Publication type:
Article
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1115, doi. 10.1002/humu.23760
By:
- Shashi, Vandana;
- Geist, Janelle;
- Lee, Youngha;
- Yoo, Yongjin;
- Shin, Unbeom;
- Schoch, Kelly;
- Sullivan, Jennifer;
- Stong, Nicholas;
- Smith, Edward;
- Jasien, Joan;
- Kranz, Peter;
- Lee, Yoonsung;
- Shin, Yong Beom;
- Wright, Nathan T.;
- Choi, Murim;
- Kontrogianni‐Konstantopoulos, Aikaterini;
- Acosta, Maria T.;
- Adams, David R.;
- Aday, Aaron;
- Alejandro, Mercedes E.
Publication type:
Article
Neurofibromatosis Type 1 Implicates Ras Pathways in the Genetic Architecture of Neurodevelopmental Disorders.
Published in:
Behavior Genetics, 2020, v. 50, n. 4, p. 191, doi. 10.1007/s10519-020-09991-x
By:
- Kaczorowski, Jessica A.;
- Smith, Taylor F.;
- Shrewsbury, Amanda M.;
- Thomas, Leah R.;
- Knopik, Valerie S.;
- Acosta, Maria T.
Publication type:
Article
Neural Plasticity in Obesity and Psychiatric Disorders.
Published in:
Neural Plasticity, 2016, p. 1, doi. 10.1155/2016/6053871
By:
- Arcos-Burgos, Mauricio;
- Acosta, Maria T.;
- Martinez, Ariel F.;
- Muenke, Maximilian;
- Enriori, Pablo J.;
- Mastronardi, Claudio A.
Publication type:
Article

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