Works matching AU Srivastava, Siddharth

Results: 133
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    Expansion of the genetic landscape of ERLIN2‐related disorders.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 573, doi. 10.1002/acn3.51007
    By:
    • Srivastava, Siddharth;
    • D'Amore, Angelica;
    • Cohen, Julie S.;
    • Swanson, Lindsay C.;
    • Ricca, Ivana;
    • Pini, Antonella;
    • Fatemi, Ali;
    • Ebrahimi‐Fakhari, Darius;
    • Santorelli, Filippo M.
    Publication type:
    Article
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    randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 20, p. 3393, doi. 10.1093/hmg/ddac111
    By:
    • Srivastava, Siddharth;
    • Jo, Booil;
    • Zhang, Bo;
    • Frazier, Thomas;
    • Gallagher, Anne Snow;
    • Peck, Fleming;
    • Levin, April R;
    • Mondal, Sangeeta;
    • Li, Zetan;
    • Filip-Dhima, Rajna;
    • Geisel, Gregory;
    • Dies, Kira A;
    • Diplock, Amelia;
    • Eng, Charis;
    • Hanna, Rabi;
    • Sahin, Mustafa;
    • Hardan, Antonio;
    • Consortium, the Developmental Synaptopathies
    Publication type:
    Article
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    Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 4, p. 625, doi. 10.1093/hmg/ddab280
    By:
    • Levy, Tess;
    • Foss-Feig, Jennifer H;
    • Betancur, Catalina;
    • Siper, Paige M;
    • Trelles-Thorne, Maria del Pilar;
    • Halpern, Danielle;
    • Frank, Yitzchak;
    • Lozano, Reymundo;
    • Layton, Christina;
    • Britvan, Bari;
    • Bernstein, Jonathan A;
    • Buxbaum, Joseph D;
    • Berry-Kravis, Elizabeth;
    • Powell, Craig M;
    • Srivastava, Siddharth;
    • Sahin, Mustafa;
    • Soorya, Latha;
    • Thurm, Audrey;
    • Kolevzon, Alexander;
    • Consortium, the Developmental Synaptopathies
    Publication type:
    Article
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    Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability.

    Published in:
    Human Mutation, 2021, v. 42, n. 6, p. 762, doi. 10.1002/humu.24206
    By:
    • Neuser, Sonja;
    • Brechmann, Barbara;
    • Heimer, Gali;
    • Brösse, Ines;
    • Schubert, Susanna;
    • O'Grady, Lauren;
    • Zech, Michael;
    • Srivastava, Siddharth;
    • Sweetser, David A.;
    • Dincer, Yasemin;
    • Mall, Volker;
    • Winkelmann, Juliane;
    • Behrends, Christian;
    • Darras, Basil T.;
    • Graham, Robert J.;
    • Jayakar, Parul;
    • Byrne, Barry;
    • Bar‐Aluma, Bat El;
    • Haberman, Yael;
    • Szeinberg, Amir
    Publication type:
    Article
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    Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.

    Published in:
    Human Mutation, 2020, v. 41, n. 7, p. 1238, doi. 10.1002/humu.24009
    By:
    • Ballout, Rami A.;
    • Dickerson, Cheryl;
    • Wick, Myra J.;
    • Al‐Sweel, Najla;
    • Openshaw, Amanda S.;
    • Srivastava, Siddharth;
    • Swanson, Lindsay C.;
    • Bramswig, Nuria C.;
    • Kuechler, Alma;
    • Hong, Bo;
    • Fleming, Leah R.;
    • Curry, Kathryn;
    • Robertson, Stephen P.;
    • Andersen, Erica F.;
    • El‐Hattab, Ayman W.
    Publication type:
    Article
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    Inside Back Cover, Volume 41, Issue 1.

    Published in:
    Human Mutation, 2020, v. 41, n. 1, p. ii, doi. 10.1002/humu.23967
    By:
    • Hijazi, Hadia;
    • Coelho, Fernanda S.;
    • Gonzaga‐Jauregui, Claudia;
    • Bernardini, Laura;
    • Mar, Soe S.;
    • Manning, Melanie A.;
    • Hanson‐Kahn, Andrea;
    • Naidu, SakkuBai;
    • Srivastava, Siddharth;
    • Lee, Jennifer A.;
    • Jones, Julie R.;
    • Friez, Michael J.;
    • Alberico, Thomas;
    • Torres, Barbara;
    • Fang, Ping;
    • Cheung, Sau Wai;
    • Song, Xiaofei;
    • Davis‐Williams, Angelique;
    • Jornlin, Carly;
    • Wight, Patricia A.
    Publication type:
    Article
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    Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.

    Published in:
    Human Mutation, 2020, v. 41, n. 1, p. 150, doi. 10.1002/humu.23902
    By:
    • Hijazi, Hadia;
    • Coelho, Fernanda S.;
    • Gonzaga‐Jauregui, Claudia;
    • Bernardini, Laura;
    • Mar, Soe S.;
    • Manning, Melanie A.;
    • Hanson‐Kahn, Andrea;
    • Naidu, SakkuBai;
    • Srivastava, Siddharth;
    • Lee, Jennifer A.;
    • Jones, Julie R.;
    • Friez, Michael J.;
    • Alberico, Thomas;
    • Torres, Barbara;
    • Fang, Ping;
    • Cheung, Sau Wai;
    • Song, Xiaofei;
    • Davis‐Williams, Angelique;
    • Jornlin, Carly;
    • Wight, Patricia A.
    Publication type:
    Article
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    Representation, activism, health promotion, and communication: The role of art in advancing global health and social justice.

    Published in:
    PLoS Global Public Health, 2025, v. 5, n. 7, p. 1, doi. 10.1371/journal.pgph.0004761
    By:
    • Reñosa, Mark Donald C.;
    • Perry, Kelly E.;
    • Srivastava, Siddharth;
    • Rawat, Angeli;
    • Orth, Zaida;
    • Tran, Phuong Bich;
    • Chong, Diane Woei-Quan;
    • Kazibwe, Joseph;
    • Shaukat, Maira;
    • Garavito, Germán Andrés Alarcón;
    • Boroudi, Mazen;
    • Dsouza, Vivek;
    • Chowdhury, Shahreen;
    • Aktar, Bachera;
    • Da Costa, Daniela;
    • Ochaita, Daniela;
    • Scott, Kerry
    Publication type:
    Article
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    Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.

    Published in:
    Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09434-0
    By:
    • Kothari, Cartik;
    • Srivastava, Siddharth;
    • Kousa, Youssef;
    • Izem, Rima;
    • Gierdalski, Marcin;
    • Kim, Dongkyu;
    • Good, Amy;
    • Dies, Kira A.;
    • Geisel, Gregory;
    • Morizono, Hiroki;
    • Gallo, Vittorio;
    • Pomeroy, Scott L.;
    • Garden, Gwenn A.;
    • Guay-Woodford, Lisa;
    • Sahin, Mustafa;
    • Avillach, Paul
    Publication type:
    Article
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    Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.

    Published in:
    Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-021-09398-7
    By:
    • Srivastava, Siddharth;
    • Condy, Emma;
    • Carmody, Erin;
    • Filip-Dhima, Rajna;
    • Kapur, Kush;
    • Bernstein, Jonathan A.;
    • Berry-Kravis, Elizabeth;
    • Powell, Craig M.;
    • Soorya, Latha;
    • Thurm, Audrey;
    • Buxbaum, Joseph D.;
    • Sahin, Mustafa;
    • Kolevzon, Alexander;
    • on behalf of Developmental Synaptopathies Consortium;
    • Kolevzon, Alexander;
    • Kravis, Elizabeth Berry;
    • Powell, Craig;
    • Warfield, Simon;
    • Dies, Kira;
    • Siper, Paige
    Publication type:
    Article
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