Works matching AU Amudhavalli, Shivarajan

Results: 10

Novel blended SNRPE‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1425, doi. 10.1002/ajmg.a.63149
By:
- Amudhavalli, Shivarajan M.;
- Paolillo, V.;
- Lawson, Caitlin;
- Patterson, Melanie;
- Kussmann, J.;
- Nopper, A. J.;
- Lypka, M.;
- Saunders, Carol
Publication type:
Article
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2863, doi. 10.1002/ajmg.a.62359
By:
- Burns, William;
- Bird, Lynne M.;
- Heron, Delphine;
- Keren, Boris;
- Ramachandra, Divya;
- Thiffault, Isabelle;
- Del Viso, Florencia;
- Amudhavalli, Shivarajan;
- Engleman, Kendra;
- Parenti, Ilaria;
- Kaiser, Frank J.;
- Wierzba, Jolanta;
- Riedhammer, Korbinian M.;
- Liptay, Susanne;
- Zadeh, Neda;
- Porrmann, Joseph;
- Fischer, Andrea;
- Gößwein, Sophie;
- McLaughlin, Heather M.;
- Telegrafi, Aida
Publication type:
Article
Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1648, doi. 10.1002/ajmg.a.38832
By:
- Amudhavalli, Shivarajan M.;
- Hanson, Randi;
- Angle, Brad;
- Bontempo, Kelly;
- Gripp, Karen W.
Publication type:
Article
Phenotypic expansion and variable expressivity in individuals with JARID2‐related intellectual disability: A case series.
Published in:
Clinical Genetics, 2022, v. 102, n. 2, p. 136, doi. 10.1111/cge.14149
By:
- Cadieux‐Dion, Maxime;
- Farrow, Emily;
- Thiffault, Isabelle;
- Cohen, Ana S. A.;
- Welsh, Holly;
- Bartik, Lauren;
- Schwager, Caitlin;
- Engleman, Kendra;
- Zhou, Dihong;
- Zhang, Lei;
- Repnikova, Elena;
- Amudhavalli, Shivarajan M.;
- Saunders, Carol J.
Publication type:
Article
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
Published in:
Clinical Genetics, 2022, v. 101, n. 2, p. 214, doi. 10.1111/cge.14085
By:
- Hanson, Jennifer;
- Brezavar, Daniel;
- Hughes, Susan;
- Amudhavalli, Shivarajan;
- Fleming, Emily;
- Zhou, Dihong;
- Alaimo, Joseph T.;
- Bonnen, Penelope E.
Publication type:
Article
Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly.
Published in:
Clinical Genetics, 2021, v. 100, n. 4, p. 386, doi. 10.1111/cge.14015
By:
- Uguen, Kévin;
- Krysiak, Kilannin;
- Audebert‐Bellanger, Séverine;
- Redon, Sylvia;
- Benech, Caroline;
- Viora‐Dupont, Eléonore;
- Tran Mau‐Them, Frederic;
- Rondeau, Sophie;
- Elsharkawi, Ibrahim;
- Granadillo, Jorge L.;
- Neidich, Julie;
- Soares, Celia Azevedo;
- Tkachenko, Natáliya;
- M. Amudhavalli, Shivarajan;
- Engleman, Kendra;
- Boland, Anne;
- Deleuze, Jean‐François;
- Bezieau, Stéphane;
- Odent, Sylvie;
- Toutain, Annick
Publication type:
Article
Occurrence and characterization of medulloblastoma in a patient with Curry‐Jones syndrome.
Published in:
Clinical Genetics, 2020, v. 97, n. 4, p. 670, doi. 10.1111/cge.13681
By:
- Porath, Binu;
- Farooki, Sana;
- Gener, Melissa;
- Amudhavalli, Shivarajan Manickavasagam;
- Grote, Lauren;
- Cooley, Linda D.;
- Ginn, Kevin;
- Farooqi, Midhat S.
Publication type:
Article
MAGEL2‐related disorders: A study and case series.
Published in:
Clinical Genetics, 2019, v. 96, n. 6, p. 493, doi. 10.1111/cge.13620
By:
- Patak, Jameson;
- Gilfert, James;
- Byler, Melissa;
- Neerukonda, Vamsee;
- Thiffault, Isabelle;
- Cross, Laura;
- Amudhavalli, Shivarajan;
- Pacio‐Miguez, Marta;
- Palomares‐Bralo, Maria;
- Garcia‐Minaur, Sixto;
- Santos‐Simarro, Fernando;
- Powis, Zoe;
- Alcaraz, Wendy;
- Tang, Sha;
- Jurgens, Julie;
- Barry, Brenda;
- England, Eleina;
- Engle, Elizabeth;
- Hess, Jonathon;
- Lebel, Robert R.
Publication type:
Article
Expanding the Phenotype of Feingold Syndrome-2.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3219, doi. 10.1002/ajmg.a.37368
By:
- Grote, Lauren E.;
- Repnikova, Elena A.;
- Amudhavalli, Shivarajan M.
Publication type:
Article
Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.
Published in:
2020
By:
- Ng, Andrew;
- Galosi, Serena;
- Salz, Lisa;
- Wong, Terence;
- Schwager, Caitlin;
- Amudhavalli, Shivarajan;
- Gelineau-Morel, Rose;
- Chowdhury, Shimul;
- Friedman, Jennifer;
- Rady Children’s Institute for Genomic Medicine Investigators
Publication type:
journal article