Works matching AU Hurst, Anna C E

Results: 19

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Published in:
Human Mutation, 2020, v. 41, n. 3, p. 641, doi. 10.1002/humu.23960
By:
- Assia Batzir, Nurit;
- Kishor Bhagwat, Pranjali;
- Larson, Austin;
- Coban Akdemir, Zeynep;
- Bagłaj, Maciej;
- Bofferding, Leon;
- Bosanko, Katherine B.;
- Bouassida, Skander;
- Callewaert, Bert;
- Cannon, Ashley;
- Enchautegui Colon, Yazmin;
- Garnica, Adolfo D.;
- Harr, Margaret H.;
- Heck, Sandra;
- Hurst, Anna C. E.;
- Jhangiani, Shalini N.;
- Isidor, Bertrand;
- Littlejohn, Rebecca O.;
- Liu, Pengfei;
- Magoulas, Pilar
Publication type:
Article
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Published in:
Human Genetics, 2024, v. 143, n. 3, p. 455, doi. 10.1007/s00439-024-02655-4
By:
- Herbst, Charlotte;
- Bothe, Viktoria;
- Wegler, Meret;
- Axer-Schaefer, Susanne;
- Audebert-Bellanger, Séverine;
- Gecz, Jozef;
- Cogne, Benjamin;
- Feldman, Hagit Baris;
- Horn, Anselm H. C.;
- Hurst, Anna C. E.;
- Kelly, Melissa A.;
- Kruer, Michael C.;
- Kurolap, Alina;
- Laquerriere, Annie;
- Li, Megan;
- Mark, Paul R.;
- Morawski, Markus;
- Nizon, Mathilde;
- Pastinen, Tomi;
- Polster, Tilman
Publication type:
Article
Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1435734
By:
- Gordon, Emily R.;
- Felker, Stephanie A.;
- Coleman, Tanner F.;
- Sosonkina, Nadiya;
- Pugh, Jada;
- Cochran, Meagan E.;
- Hurst, Anna C. E.;
- Cooper, Sara J.
Publication type:
Article
Case report: 11-ketotestosterone may potentiate advanced bone age as seen in some cases of Wiedemann-Steiner Syndrome.
Published in:
Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1004114
By:
- Buchanan, Katherine;
- Greenup, Erin;
- Hurst, Anna C. E.;
- Sunil, Bhuvana;
- Ashraf, Ambika P.
Publication type:
Article
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63559
By:
- Ha, Thoa;
- Morgan, Angela;
- Bartos, Meghan N.;
- Beatty, Katelyn;
- Cogné, Benjamin;
- Braun, Dominique;
- Gerber, Céline B.;
- Gaspar, Harald;
- Kopps, Anna M.;
- Rieubland, Claudine;
- Hurst, Anna C. E.;
- Amor, David J.;
- Nizon, Mathilde;
- Pasquier, Laurent;
- Pfundt, Rolph;
- Reis, André;
- Siu, Victoria Mok;
- Tessarech, Marine;
- Thompson, Michelle L.;
- Vincent, Marie
Publication type:
Article
A qualitative evaluation of patient and parent experiences with an undiagnosed diseases program.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 131, doi. 10.1002/ajmg.a.63417
By:
- Siebold, Dorothea;
- Denton, Jessica;
- Hurst, Anna C. E.;
- Moss, Irene;
- Korf, Bruce
Publication type:
Article
Perspectives on the future of dysmorphology.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 659, doi. 10.1002/ajmg.a.63060
By:
- Solomon, Benjamin D.;
- Adam, Margaret P.;
- Fong, Chin‐To;
- Girisha, Katta M.;
- Hall, Judith G.;
- Hurst, Anna C. E.;
- Krawitz, Peter M.;
- Moosa, Shahida;
- Phadke, Shubha R.;
- Tekendo‐Ngongang, Cedrik;
- Wenger, Tara L.
Publication type:
Article
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1366, doi. 10.1002/ajmg.a.62102
By:
- Glinton, Kevin E.;
- Hurst, Anna C. E.;
- Bowling, Kevin M.;
- Cristian, Ingrid;
- Haynes, Devon;
- Adstamongkonkul, Dusit;
- Schnappauf, Oskar;
- Beck, David B.;
- Brewer, Carole;
- Parikh, Aditi Shah;
- Shinde, Deepali N.;
- Donaldson, Alan;
- Brautbar, Ariel;
- Koene, Saskia;
- Haeringen, Arie;
- Piton, Amélie;
- Capri, Yline;
- Furlan, Margherita;
- Gardella, Elena;
- Møller, Rikke Steensbjerre
Publication type:
Article
Dysmorphology in the Era of Genomic Diagnosis.
Published in:
Journal of Personalized Medicine, 2020, v. 10, n. 1, p. 18, doi. 10.3390/jpm10010018
By:
- Hurst, Anna C. E.;
- Robin, Nathaniel H.
Publication type:
Article
Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.
Published in:
2018
By:
- Kerr, Elizabeth R.;
- Stuhlmiller, Gary M.;
- Maha, George C.;
- Ladd, Mark A.;
- Koester, Ruth P.;
- Mikhail, Fady M.;
- Hurst, Anna C. E.
Publication type:
Case Study
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Published in:
Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4232, doi. 10.1093/brain/awac049
By:
- Banka, Siddharth;
- Bennington, Abigail;
- Baker, Martin J;
- Rijckmans, Ellen;
- Clemente, Giuliana D;
- Ansor, Nurhuda Mohamad;
- Sito, Hilary;
- Prasad, Pritha;
- Anyane-Yeboa, Kwame;
- Badalato, Lauren;
- Dimitrov, Boyan;
- Fitzpatrick, David;
- Hurst, Anna C E;
- Jansen, Anna C;
- Kelly, Melissa A;
- Krantz, Ian;
- Rieubland, Claudine;
- Ross, Meredith;
- Rudy, Natasha L;
- Sanz, Javier
Publication type:
Article
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Published in:
2022
By:
- Bainbridge, Matthew N;
- Mazumder, Aloran;
- Ogasawara, Daisuke;
- Jamra, Rami Abou;
- Bernard, Geneviève;
- Bertini, Enrico;
- Burglen, Lydie;
- Cope, Heidi;
- Crawford, Ali;
- Derksen, Alexa;
- Dure, Leon;
- Gantz, Emily;
- Koch-Hogrebe, Margarete;
- Hurst, Anna C E;
- Mahida, Sonal;
- Marshall, Paige;
- Micalizzi, Alessia;
- Novelli, Antonio;
- Peng, Hongfan;
- Medicine, Rady Children's Institute for Genomic
Publication type:
journal article
Clinical Diagnosis through Whole-Genome Sequencing.
Published in:
Clinical Chemistry, 2020, v. 66, n. 1, p. 261, doi. 10.1093/clinchem.2019.310128
By:
- Hurst, Anna C. E.;
- Wilk, Melissa A.;
- Holt, James M.;
- Lyon, Elaine;
- Bick, David
Publication type:
Article
DNA Methylation Signature for JARID2 -Neurodevelopmental Syndrome.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 8001, doi. 10.3390/ijms23148001
By:
- Verberne, Eline A.;
- van der Laan, Liselot;
- Haghshenas, Sadegheh;
- Rooney, Kathleen;
- Levy, Michael A.;
- Alders, Mariëlle;
- Maas, Saskia M.;
- Jansen, Sandra;
- Lieden, Agne;
- Anderlid, Britt-Marie;
- Rafael-Croes, Louise;
- Campeau, Philippe M.;
- Chaudhry, Ayeshah;
- Koolen, David A.;
- Pfundt, Rolph;
- Hurst, Anna C. E.;
- Tran-Mau-Them, Frederic;
- Bruel, Ange-Line;
- Lambert, Laetitia;
- Isidor, Bertrand
Publication type:
Article
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 17, p. 2937, doi. 10.1093/hmg/ddz117
By:
- Liang, Lina;
- Li, Xia;
- Moutton, Sébastien;
- Vergano, Samantha A Schrier;
- Cogné, Benjamin;
- Saint-Martin, Anne;
- Hurst, Anna C E;
- Hu, Yushuang;
- Bodamer, Olaf;
- Thevenon, Julien;
- Hung, Christina Y;
- Isidor, Bertrand;
- Gerard, Bénédicte;
- Rega, Adelaide;
- Nambot, Sophie;
- Lehalle, Daphné;
- Duffourd, Yannis;
- Thauvin-Robinet, Christel;
- Faivre, Laurence;
- Bézieau, Stéphane
Publication type:
Article
Direct‐to‐consumer genome sequencing helps a mother take her child's diagnostic odyssey into her own hands.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 2/3, p. 1, doi. 10.1002/ajmg.c.32108
By:
- Bartos, Meghan N.;
- Hurst, Anna C. E.;
- Villa, Caterina Abdala
Publication type:
Article
Listening to patients with suspected genetic diagnoses: A narrative perspective.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2024, v. 196, n. 2/3, p. 1, doi. 10.1002/ajmg.c.32079
By:
- Slocum, Robert B.;
- Hurst, Anna C. E.;
- Shelley, Ellis;
- Berry, Lisa;
- Hopkin, Robert J.;
- Rippert, Alyssa L.;
- Bhoj, Elizabeth;
- Graham, John M.;
- Grand, Katheryn;
- Gonzalez, Aixa;
- Zarate, Yuri A.
Publication type:
Article
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01139-2
By:
- Bowling, Kevin M.;
- Thompson, Michelle L.;
- Kelly, Melissa A.;
- Scollon, Sarah;
- Slavotinek, Anne M.;
- Powell, Bradford C.;
- Kirmse, Brian M.;
- Hendon, Laura G.;
- Brothers, Kyle B.;
- Korf, Bruce R.;
- Cooper, Gregory M.;
- Greally, John M.;
- Hurst, Anna C. E.
Publication type:
Article
Foramen magnum compression in Coffin-Lowry syndrome: A case report.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1087, doi. 10.1002/ajmg.a.38095
By:
- Upadia, Jariya;
- Oakes, Jerry;
- Hamm, Austin;
- Hurst, Anna C. E.;
- Robin, Nathaniel H.
Publication type:
Article