Works by Srivastava, Siddharth

Results: 129
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    Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

    Published in:
    JAMA Neurology, 2017, v. 74, n. 10, p. 1228, doi. 10.1001/jamaneurol.2017.1714
    By:
    • de Kovel, Carolien G. F.;
    • Syrbe, Steffen;
    • Brilstra, Eva H.;
    • Verbeek, Nienke;
    • Kerr, Bronwyn;
    • Dubbs, Holly;
    • Bayat, Allan;
    • Desai, Sonal;
    • Naidu, Sakkubai;
    • Srivastava,, Siddharth;
    • Cagaylan, Hande;
    • Uluc Yis;
    • Saunders, Carol;
    • Rook, Martin;
    • Plugge, Susanna;
    • Muhle, Hiltrud;
    • Afawi, Zaid;
    • Klein, Karl-Martin;
    • Jayaraman, Vijayakumar;
    • Rajagopalan, Ramakrishnan
    Publication type:
    Article
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    Polymicrogyria is Associated With Pathogenic Variants in PTEN.

    Published in:
    Annals of Neurology, 2020, v. 88, n. 6, p. 1153, doi. 10.1002/ana.25904
    By:
    • Shao, Diane D.;
    • Achkar, Christelle M.;
    • Lai, Abbe;
    • Srivastava, Siddharth;
    • Doan, Ryan N.;
    • Rodan, Lance H.;
    • Chen, Allen Y.;
    • Poduri, Annapurna;
    • Yang, Edward;
    • Walsh, Christopher A.;
    • Irons, Mira B.;
    • Johnson, Ervin L.;
    • Ojeda, Mayra Martinez;
    • Olson, Heather E.;
    • Sahin, Mustafa;
    • Stredny, Coral M.;
    • Tan, Wen‐Hann
    Publication type:
    Article
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    Clinical whole exome sequencing in child neurology practice.

    Published in:
    Annals of Neurology, 2014, v. 76, n. 4, p. 473, doi. 10.1002/ana.24251
    By:
    • Srivastava, Siddharth;
    • Cohen, Julie S.;
    • Vernon, Hilary;
    • Barañano, Kristin;
    • McClellan, Rebecca;
    • Jamal, Leila;
    • Naidu, SakkuBai;
    • Fatemi, Ali
    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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    Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

    Published in:
    Movement Disorders, 2022, v. 37, n. 12, p. 2440, doi. 10.1002/mds.29225
    By:
    • Mo, Alisa;
    • Saffari, Afshin;
    • Kellner, Melanie;
    • Döbler‐Neumann, Marion;
    • Jordan, Catherine;
    • Srivastava, Siddharth;
    • Zhang, Bo;
    • Sahin, Mustafa;
    • Fink, John K.;
    • Smith, Linsley;
    • Posey, Jennifer E.;
    • Alter, Katharine E.;
    • Toro, Camilo;
    • Blackstone, Craig;
    • Soldatos, Ariane G.;
    • Christie, Michelle;
    • Schüle, Rebecca;
    • Ebrahimi‐Fakhari, Darius
    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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    Psychiatric Characteristics Across Individuals With PTEN Mutations.

    Published in:
    Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.672070
    By:
    • Steele, Morgan;
    • Uljarević, Mirko;
    • Rached, Gaëlle;
    • Frazier, Thomas W.;
    • Phillips, Jennifer M.;
    • Libove, Robin A.;
    • Busch, Robyn M.;
    • Klaas, Patricia;
    • Martinez-Agosto, Julian A.;
    • Srivastava, Siddharth;
    • Eng, Charis;
    • Sahin, Mustafa;
    • Hardan, Antonio Y.
    Publication type:
    Article
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    Impact of the COVID-19 Pandemic on Gastroenterology Training in India.

    Published in:
    Journal of Digestive Endoscopy, 2022, v. 13, n. 2, p. 77, doi. 10.1055/s-0042-1748636
    By:
    • Sonika, Ujjwal;
    • Sachdeva, Sanjeev;
    • Kumar, Ajay;
    • Srivastava, Siddharth;
    • Dahale, Amol;
    • Sharma, Barjesh Chander;
    • Kumar, Manish;
    • Pandey, Toshali;
    • Yadav, Devesh Prakash;
    • Maharshi, Sudhir;
    • Nair, Sandeep V.;
    • Dalal, Ashok
    Publication type:
    Article
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    Aortic Root Dilation and Genotype Associations in Phelan‐McDermid Syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63872
    By:
    • Gluckman, Jake;
    • Levy, Tess;
    • Friedman, Kate;
    • Garces, Francesca;
    • Filip‐Dhima, Rajna;
    • Quinlan, Aisling;
    • Iannotti, Isabelle;
    • Pekar, Margaret;
    • Hernandez, Alexandra Lopez;
    • Nava, Madison T.;
    • Kravets, Elijah;
    • Siegel, Abigail;
    • Bernstein, Jonathan A.;
    • Berry‐Kravis, Elizabeth;
    • Powell, Craig M.;
    • Soorya, Latha Valluripalli;
    • Thurm, Audrey;
    • Srivastava, Siddharth;
    • Buxbaum, Joseph D.;
    • Sahin, Mustafa
    Publication type:
    Article
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    Updated consensus guidelines on the management of Phelan–McDermid syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2015, doi. 10.1002/ajmg.a.63312
    By:
    • Srivastava, Siddharth;
    • Sahin, Mustafa;
    • Buxbaum, Joseph D.;
    • Berry‐Kravis, Elizabeth;
    • Soorya, Latha Valluripalli;
    • Thurm, Audrey;
    • Bernstein, Jonathan A.;
    • Asante‐Otoo, Afua;
    • Bennett, William E.;
    • Betancur, Catalina;
    • Brickhouse, Tegwyn H.;
    • Passos Bueno, Maria Rita;
    • Chopra, Maya;
    • Christensen, Celanie K.;
    • Cully, Jennifer L.;
    • Dies, Kira;
    • Friedman, Kate;
    • Gummere, Brittany;
    • Holder, J. Lloyd;
    • Jimenez‐Gomez, Andres
    Publication type:
    Article
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    Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1900, doi. 10.1002/ajmg.a.63226
    By:
    • Wojcik, Monica H.;
    • Srivastava, Siddharth;
    • Agrawal, Pankaj B.;
    • Balci, Tugce B.;
    • Callewaert, Bert;
    • Calvo, Pier Luigi;
    • Carli, Diana;
    • Caudle, Michelle;
    • Colaiacovo, Samantha;
    • Cross, Laura;
    • Demetriou, Kalliope;
    • Drazba, Katy;
    • Dutra‐Clarke, Marina;
    • Edwards, Matthew;
    • Genetti, Casie A.;
    • Grange, Dorothy K.;
    • Hickey, Scott E.;
    • Isidor, Bertrand;
    • Küry, Sébastien;
    • Lachman, Herbert M.
    Publication type:
    Article
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    Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1667, doi. 10.1002/ajmg.a.62673
    By:
    • Lines, Matthew A.;
    • Goldenberg, Paula;
    • Wong, Ashley;
    • Srivastava, Siddharth;
    • Bayat, Allan;
    • Hove, Hanne;
    • Karstensen, Helena Gásdal;
    • Anyane‐Yeboa, Kwame;
    • Liao, Jun;
    • Jiang, Nan;
    • May, Alison;
    • Guzman, Edwin;
    • Morleo, Manuela;
    • D'Arrigo, Stefano;
    • Ciaccio, Claudia;
    • Pantaleoni, Chiara;
    • Castello, Raffaele;
    • McKee, Shane;
    • Ong, Jinfon;
    • Zibdeh‐Lough, Hana
    Publication type:
    Article
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