Works by Prasad, Chitra


Results: 89
    1
    2

    Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes.

    Published in:
    Human Mutation, 2022, v. 43, n. 3, p. 305, doi. 10.1002/humu.24330
    By:
    • Yang, Jennifer H.;
    • Friederich, Marisa W.;
    • Ellsworth, Katarzyna A.;
    • Frederick, Aliya;
    • Foreman, Emily;
    • Malicki, Denise;
    • Dimmock, David;
    • Lenberg, Jerica;
    • Prasad, Chitra;
    • Yu, Andrea C.;
    • Anthony Rupar, C.;
    • Hegele, Robert A.;
    • Manickam, Kandamurugu;
    • Koboldt, Daniel C.;
    • Crist, Erin;
    • Choi, Samantha S.;
    • Farhan, Sali M.K.;
    • Harvey, Helen;
    • Sattar, Shifteh;
    • Karp, Natalya
    Publication type:
    Article
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12
    13
    14
    15
    16

    Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

    Published in:
    Brain Communications, 2025, v. 7, n. 1, p. 1, doi. 10.1093/braincomms/fcae453
    By:
    • Kaiyrzhanov, Rauan;
    • Thompson, Kyle;
    • Efthymiou, Stephanie;
    • Mukushev, Askhat;
    • Zharylkassyn, Akbota;
    • Prasad, Chitra;
    • Karimiani, Ehsan Ghayoor;
    • Alvi, Javeria Raza;
    • Niyazov, Dmitriy;
    • Alahmad, Ahmad;
    • Babaei, Meisam;
    • Tajsharghi, Homa;
    • Albash, Buthaina;
    • Alaqeel, Ahmad;
    • Charif, Majida;
    • Hashemi, Narges;
    • Heidari, Morteza;
    • Kalantar, Seyed Mehdi;
    • Lenaers, Guy;
    • Mehrjardi, Mohammad Yahya Vahidi
    Publication type:
    Article
    17

    Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 4, p. 355, doi. 10.1093/hmg/ddad188
    By:
    • Allen, James P;
    • Garber, Kathryn B;
    • Perszyk, Riley;
    • Khayat, Cara T;
    • Kell, Steven A;
    • Kaneko, Maki;
    • Quindipan, Catherine;
    • Saitta, Sulagna;
    • Ladda, Roger L;
    • Hewson, Stacy;
    • Inbar-Feigenberg, Michal;
    • Prasad, Chitra;
    • Prasad, Asuri N;
    • Olewiler, Leah;
    • Mu, Weiyi;
    • Rosenthal, Liana S;
    • Scala, Marcello;
    • Striano, Pasquale;
    • Zara, Federico;
    • McCullock, Tyler W
    Publication type:
    Article
    18
    19
    20
    21
    22
    23
    24
    25
    26

    Growth hormone deficiency in megalencephaly‐capillary malformation syndrome: An association with activating mutations in PIK3CA.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 162, doi. 10.1002/ajmg.a.61403
    By:
    • Davis, Shanlee;
    • Ware, Meredith A.;
    • Zeiger, Jordan;
    • Deardorff, Matthew A.;
    • Grand, Katheryn;
    • Grimberg, Adda;
    • Hsu, Stephanie;
    • Kelsey, Megan;
    • Majidi, Shideh;
    • Matthew, Revi P.;
    • Napier, Melanie;
    • Nokoff, Natalie;
    • Prasad, Chitra;
    • Riggs, Andrew C.;
    • McKinnon, Margaret L.;
    • Mirzaa, Ghayda
    Publication type:
    Article
    27

    Deletion of 15q11.2(BP1-BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2098, doi. 10.1002/ajmg.a.37134
    By:
    • Hashemi, Bita;
    • Bassett, Anne;
    • Chitayat, David;
    • Chong, Karen;
    • Feldman, Mark;
    • Flanagan, Janine;
    • Goobie, Sharan;
    • Kawamura, Anne;
    • Lowther, Chelsea;
    • Prasad, Chitra;
    • Siu, Victoria;
    • So, Joyce;
    • Tung, Sharon;
    • Speevak, Marsha;
    • Stavropoulos, Dimitri J.;
    • Carter, Melissa T.
    Publication type:
    Article
    28
    29

    Cohesin complex-associated holoprosencephaly.

    Published in:
    2019
    By:
    • Kruszka, Paul;
    • Berger, Seth I;
    • Casa, Valentina;
    • Dekker, Mike R;
    • Gaesser, Jenna;
    • Weiss, Karin;
    • Martinez, Ariel F;
    • Murdock, David R;
    • Louie, Raymond J;
    • Prijoles, Eloise J;
    • Lichty, Angie W;
    • Brouwer, Oebele F;
    • Zonneveld-Huijssoon, Evelien;
    • Stephan, Mark J;
    • Hogue, Jacob;
    • Hu, Ping;
    • Tanima-Nagai, Momoko;
    • Everson, Joshua L;
    • Prasad, Chitra;
    • Cereda, Anna
    Publication type:
    journal article
    30

    PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

    Published in:
    2015
    By:
    • Jobling, Rebekah K;
    • Assoum, Mirna;
    • Gakh, Oleksandr;
    • Blaser, Susan;
    • Raiman, Julian A;
    • Mignot, Cyril;
    • Roze, Emmanuel;
    • Dürr, Alexandra;
    • Brice, Alexis;
    • Lévy, Nicolas;
    • Prasad, Chitra;
    • Paton, Tara;
    • Paterson, Andrew D;
    • Roslin, Nicole M;
    • Marshall, Christian R;
    • Desvignes, Jean-Pierre;
    • Roëckel-Trevisiol, Nathalie;
    • Scherer, Stephen W;
    • Rouleau, Guy A;
    • Mégarbané, André
    Publication type:
    journal article
    31
    32

    Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1534, doi. 10.1093/brain/awt054
    By:
    • Kevelam, Sietske H.;
    • Bugiani, Marianna;
    • Salomons, Gajja S.;
    • Feigenbaum, Annette;
    • Blaser, Susan;
    • Prasad, Chitra;
    • Häberle, Johannes;
    • Barić, Ivo;
    • Bakker, Ingrid M. C.;
    • Postma, Nienke L.;
    • Kanhai, Warsha A.;
    • Wolf, Nicole I.;
    • Abbink, Truus E. M.;
    • Waisfisz, Quinten;
    • Heutink, Peter;
    • van der Knaap, Marjo S.
    Publication type:
    Article
    33

    BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07193-y
    By:
    • Aref-Eshghi, Erfan;
    • Bend, Eric G.;
    • Hood, Rebecca L.;
    • Schenkel, Laila C.;
    • Carere, Deanna Alexis;
    • Chakrabarti, Rana;
    • Nagamani, Sandesh C. S.;
    • Cheung, Sau Wai;
    • Campeau, Philippe M.;
    • Prasad, Chitra;
    • Siu, Victoria Mok;
    • Brady, Lauren;
    • Tarnopolsky, Mark A.;
    • Callen, David J.;
    • Innes, A. Micheil;
    • White, Susan M.;
    • Meschino, Wendy S.;
    • Shuen, Andrew Y.;
    • Paré, Guillaume;
    • Bulman, Dennis E.
    Publication type:
    Article
    34

    Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

    Published in:
    2016
    By:
    • Siddiq, Shabnaz;
    • Wilson, Brenda J;
    • Graham, Ian D;
    • Lamoureux, Monica;
    • Khangura, Sara D;
    • Tingley, Kylie;
    • Tessier, Laure;
    • Chakraborty, Pranesh;
    • Coyle, Doug;
    • Dyack, Sarah;
    • Gillis, Jane;
    • Greenberg, Cheryl;
    • Hayeems, Robin Z;
    • Jain-Ghai, Shailly;
    • Kronick, Jonathan B;
    • Laberge, Anne-Marie;
    • Little, Julian;
    • Mitchell, John J;
    • Prasad, Chitra;
    • Siriwardena, Komudi
    Publication type:
    journal article
    35

    Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

    Published in:
    Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0548-2
    By:
    • Siddiq, Shabnaz;
    • Wilson, Brenda J.;
    • Graham, Ian D.;
    • Lamoureux, Monica;
    • Khangura, Sara D.;
    • Tingley, Kylie;
    • Tessier, Laure;
    • Chakraborty, Pranesh;
    • Coyle, Doug;
    • Dyack, Sarah;
    • Gillis, Jane;
    • Greenberg, Cheryl;
    • Hayeems, Robin Z.;
    • Jain-Ghai, Shailly;
    • Kronick, Jonathan B.;
    • Laberge, Anne-Marie;
    • Little, Julian;
    • Mitchell, John J.;
    • Prasad, Chitra;
    • Siriwardena, Komudi
    Publication type:
    Article
    36

    The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.

    Published in:
    2016
    By:
    • Karaceper, Maria D.;
    • Chakraborty, Pranesh;
    • Coyle, Doug;
    • Wilson, Kumanan;
    • Kronick, Jonathan B.;
    • Hawken, Steven;
    • Davies, Christine;
    • Brownell, Marni;
    • Dodds, Linda;
    • Feigenbaum, Annette;
    • Fell, Deshayne B.;
    • Grosse, Scott D.;
    • Guttmann, Astrid;
    • Laberge, Anne-Marie;
    • Mhanni, Aizeddin;
    • Miller, Fiona A.;
    • Mitchell, John J.;
    • Nakhla, Meranda;
    • Prasad, Chitra;
    • Rockman-Greenberg, Cheryl
    Publication type:
    journal article
    37

    CHARGE syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2006, v. 1, p. 34, doi. 10.1186/1750-1172-1-34
    By:
    • Blake, Kim D.;
    • Prasad, Chitra
    Publication type:
    Article
    38
    40
    41

    Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 139, doi. 10.1007/s10545-015-9881-1
    By:
    • Khangura, Sara;
    • Tingley, Kylie;
    • Chakraborty, Pranesh;
    • Coyle, Doug;
    • Kronick, Jonathan;
    • Laberge, Anne-Marie;
    • Little, Julian;
    • Miller, Fiona;
    • Mitchell, John;
    • Prasad, Chitra;
    • Siddiq, Shabnaz;
    • Siriwardena, Komudi;
    • Sparkes, Rebecca;
    • Speechley, Kathy;
    • Stockler, Sylvia;
    • Trakadis, Yannis;
    • Wilson, Brenda;
    • Wilson, Kumanan;
    • Potter, Beth
    Publication type:
    Article
    42
    43
    44
    45
    46
    47

    Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

    Published in:
    Patient, 2022, v. 15, n. 2, p. 171, doi. 10.1007/s40271-021-00538-8
    By:
    • Chow, Andrea J.;
    • Pugliese, Michael;
    • Tessier, Laure A.;
    • Chakraborty, Pranesh;
    • Iverson, Ryan;
    • Coyle, Doug;
    • Kronick, Jonathan B.;
    • Wilson, Kumanan;
    • Hayeems, Robin;
    • Al-Hertani, Walla;
    • Inbar-Feigenberg, Michal;
    • Jain-Ghai, Shailly;
    • Laberge, Anne-Marie;
    • Little, Julian;
    • Mitchell, John J.;
    • Prasad, Chitra;
    • Siriwardena, Komudi;
    • Sparkes, Rebecca;
    • Speechley, Kathy N.;
    • Stockler, Sylvia
    Publication type:
    Article
    48
    49
    50