Found: 14

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  • Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

    Published in:
    Brain: A Journal of Neurology, 2020, v. 143, n. 1, p. 112, doi. 10.1093/brain/awz374
    By:
    • Bergen, Nicole J Van;
    • Guo, Yiran;
    • Al-Deri, Noraldin;
    • Lipatova, Zhanna;
    • Stanga, Daniela;
    • Zhao, Sarah;
    • Murtazina, Rakhilya;
    • Gyurkovska, Valeriya;
    • Pehlivan, Davut;
    • Mitani, Tadahiro;
    • Gezdirici, Alper;
    • Antony, Jayne;
    • Collins, Felicity;
    • Willis, Mary J H;
    • Akdemir, Zeynep H Coban;
    • Liu, Pengfei;
    • Punetha, Jaya;
    • Hunter, Jill V;
    • Jhangiani, Shalini N;
    • Fatih, Jawid M
    Publication type:
    Article

  • Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

    Published in:
    2019
    By:
    • Van Bergen, Nicole J;
    • Guo, Yiran;
    • Al-Deri, Noraldin;
    • Lipatova, Zhanna;
    • Stanga, Daniela;
    • Zhao, Sarah;
    • Murtazina, Rakhilya;
    • Gyurkovska, Valeriya;
    • Pehlivan, Davut;
    • Mitani, Tadahiro;
    • Gezdirici, Alper;
    • Antony, Jayne;
    • Collins, Felicity;
    • Willis, Mary J H;
    • Coban Akdemir, Zeynep H;
    • Liu, Pengfei;
    • Punetha, Jaya;
    • Hunter, Jill V;
    • Jhangiani, Shalini N;
    • Fatih, Jawid M
    Publication type:
    journal article

  • Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1397
    By:
    • Cope, Heidi;
    • Spillmann, Rebecca;
    • Rosenfeld, Jill A.;
    • Brokamp, Elly;
    • Signer, Rebecca;
    • Schoch, Kelly;
    • Kelley, Emily G.;
    • Sullivan, Jennifer A.;
    • Macnamara, Ellen;
    • Lincoln, Sharyn;
    • Golden‐Grant, Katie;
    • Orengo, James P.;
    • Clark, Gary;
    • Burrage, Lindsay C.;
    • Posey, Jennifer E.;
    • Punetha, Jaya;
    • Robertson, Amy;
    • Cogan, Joy;
    • Phillips, John A.;
    • Martinez‐Agosto, Julian
    Publication type:
    Article

  • Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63455
    By:
    • Bhola, Priya T.;
    • Mishra, Radha;
    • Posey, Jennifer E.;
    • Hamilton, Leslie E.;
    • Graham, Gail E.;
    • Punetha, Jaya;
    • Lupski, James R.;
    • Boycott, Kym M.;
    • D'Amours, Damien;
    • Kernohan, Kristin D.
    Publication type:
    Article

  • A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.

    Published in:
    American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 794, doi. 10.1002/ajmg.a.63080
    By:
    • Dawood, Moez;
    • Akay, Gulsen;
    • Mitani, Tadahiro;
    • Marafi, Dana;
    • Fatih, Jawid M.;
    • Gezdirici, Alper;
    • Najmabadi, Hossein;
    • Kahrizi, Kimia;
    • Punetha, Jaya;
    • Grochowski, Christopher M.;
    • Du, Haowei;
    • Jolly, Angad;
    • Li, He;
    • Coban‐Akdemir, Zeynep;
    • Sedlazeck, Fritz J.;
    • Hunter, Jill V.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna;
    • Pehlivan, Davut;
    • Posey, Jennifer E.
    Publication type:
    Article

  • Wolff–Parkinson–White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1387, doi. 10.1002/ajmg.a.61571
    By:
    • Coban‐Akdemir, Zeynep H.;
    • Charng, Wu‐Lin;
    • Azamian, Mahshid;
    • Paine, Ingrid S.;
    • Punetha, Jaya;
    • Grochowski, Christopher M.;
    • Gambin, Tomasz;
    • Valdes, Santiago O.;
    • Cannon, Bryan;
    • Zapata, Gladys;
    • Hernandez, Patricia P.;
    • Jhangiani, Shalini;
    • Doddapaneni, Harsha;
    • Hu, Jianhong;
    • Boricha, Fatima;
    • Muzny, Donna M.;
    • Boerwinkle, Eric;
    • Yang, Yaping;
    • Gibbs, Richard A.;
    • Posey, Jennifer E.
    Publication type:
    Article

  • Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.

    Published in:
    2017
    By:
    • Punetha, Jaya;
    • Kesari, Akanchha;
    • Hoffman, Eric P.;
    • Gos, Monika;
    • Kamińska, Anna;
    • Kostera‐Pruszczyk, Anna;
    • Hausmanowa‐Petrusewicz, Irena;
    • Hu, Ying;
    • Zou, Yaqun;
    • Bönnemann, Carsten G.;
    • JȨdrzejowska, Maria;
    • Kamińska, Anna;
    • Kostera-Pruszczyk, Anna;
    • Hausmanowa-Petrusewicz, Irena;
    • Bönnemann, Carsten G;
    • JȨdrzejowska, Maria
    Publication type:
    journal article

  • Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 6, p. 883, doi. 10.1038/ejhg.2014.169
    By:
    • O'Grady, Gina L;
    • Best, Heather A;
    • Oates, Emily C;
    • Kaur, Simranpreet;
    • Charlton, Amanda;
    • Brammah, Susan;
    • Punetha, Jaya;
    • Kesari, Akanchha;
    • North, Kathryn N;
    • Ilkovski, Biljana;
    • Hoffman, Eric P;
    • Clarke, Nigel F
    Publication type:
    Article

  • Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 610, doi. 10.1002/acn3.51003
    By:
    • Marafi, Dana;
    • Mitani, Tadahiro;
    • Isikay, Sedat;
    • Hertecant, Jozef;
    • Almannai, Mohammed;
    • Manickam, Kandamurugu;
    • Abou Jamra, Rami;
    • El‐Hattab, Ayman W.;
    • Rajah, Jaishen;
    • Fatih, Jawid M.;
    • Du, Haowei;
    • Karaca, Ender;
    • Bayram, Yavuz;
    • Punetha, Jaya;
    • Rosenfeld, Jill A.;
    • Jhangiani, Shalini N.;
    • Boerwinkle, Eric;
    • Akdemir, Zeynep C.;
    • Erdin, Serkan;
    • Hunter, Jill V.
    Publication type:
    Article

  • Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1395, doi. 10.1002/acn3.50824
    By:
    • Punetha, Jaya;
    • Karaca, Ender;
    • Gezdirici, Alper;
    • Lamont, Ryan E.;
    • Pehlivan, Davut;
    • Marafi, Dana;
    • Appendino, Juan P.;
    • Hunter, Jill V.;
    • Akdemir, Zeynep C.;
    • Fatih, Jawid M.;
    • Jhangiani, Shalini N.;
    • Gibbs, Richard A.;
    • Innes, A. Micheil;
    • Posey, Jennifer E.;
    • Lupski, James R.
    Publication type:
    Article

  • Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

    Published in:
    2016
    By:
    • O'Grady, Gina L.;
    • Lek, Monkol;
    • Lamande, Shireen R.;
    • Waddell, Leigh;
    • Oates, Emily C.;
    • Punetha, Jaya;
    • Ghaoui, Roula;
    • Sandaradura, Sarah A.;
    • Best, Heather;
    • Kaur, Simranpreet;
    • Davis, Mark;
    • Laing, Nigel G.;
    • Muntoni, Francesco;
    • Hoffman, Eric;
    • MacArthur, Daniel G.;
    • Clarke, Nigel F.;
    • Cooper, Sandra;
    • North, Kathryn
    Publication type:
    journal article

  • Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study.

    Published in:
    Annals of Neurology, 2015, v. 77, n. 4, p. 684, doi. 10.1002/ana.24370
    By:
    • Bello, Luca;
    • Kesari, Akanchha;
    • Gordish‐Dressman, Heather;
    • Cnaan, Avital;
    • Morgenroth, Lauren P.;
    • Punetha, Jaya;
    • Duong, Tina;
    • Henricson, Erik K.;
    • Pegoraro, Elena;
    • McDonald, Craig M.;
    • Hoffman, Eric P.
    Publication type:
    Article

  • The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 12, p. 2064, doi. 10.1093/hmg/ddy110
    By:
    • Jordan, Valerie K.;
    • Beck, Tyler F.;
    • Hernandez-Garcia, Andres;
    • Kundert, Peter N.;
    • Kim, Bum-Jun;
    • Jhangiani, Shalini N.;
    • Gambin, Tomasz;
    • Starkovich, Molly;
    • Punetha, Jaya;
    • Paine, Ingrid S.;
    • Posey, Jennifer E.;
    • Li, Alexander H.;
    • Muzny, Donna;
    • Chih-Wei Hsu;
    • Lashua, Amber J.;
    • Suna, Xin;
    • Fernandes, Caraciolo J.;
    • Dickinson, Mary E.;
    • Lally, Kevin P.;
    • Gibbs, Richard A.
    Publication type:
    Article

  • The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

    Published in:
    Human Mutation, 2022, v. 43, n. 2, p. 266, doi. 10.1002/humu.24308
    By:
    • Kumble, Smitha;
    • Levy, Amanda M.;
    • Punetha, Jaya;
    • Gao, Hua;
    • Ah Mew, Nicholas;
    • Anyane‐Yeboa, Kwame;
    • Benke, Paul J.;
    • Berger, Sara M.;
    • Bjerglund, Lise;
    • Campos‐Xavier, Belinda;
    • Ciliberto, Michael;
    • Cohen, Julie S.;
    • Comi, Anne M.;
    • Curry, Cynthia;
    • Damaj, Lena;
    • Denommé‐Pichon, Anne‐Sophie;
    • Emrick, Lisa;
    • Faivre, Laurence;
    • Fasano, Mary Beth;
    • Fiévet, Alice
    Publication type:
    Article