Works matching AU Mahida, Sonal

Results: 16

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 445, doi. 10.1002/humu.24176
By:
- Woerden, Geeske M.;
- Bos, Melanie;
- Konink, Charlotte;
- Distel, Ben;
- Avagliano Trezza, Rossella;
- Shur, Natasha E.;
- Barañano, Kristin;
- Mahida, Sonal;
- Chassevent, Anna;
- Schreiber, Allison;
- Erwin, Angelika L.;
- Gripp, Karen W.;
- Rehman, Fatima;
- Brulleman, Saskia;
- McCormack, Róisín;
- Geus, Gwynna;
- Kalsner, Louisa;
- Sorlin, Arthur;
- Bruel, Ange‐Line;
- Koolen, David A.
Publication type:
Article
A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.
Published in:
Human Mutation, 2018, v. 39, n. 6, p. 827, doi. 10.1002/humu.23426
By:
- Nguyen, Thi Tuyet Mai;
- Mahida, Sonal;
- Smith-Hicks, Constance;
- Campeau, Philippe M.
Publication type:
Article
Expansion of the clinical spectrum associated with AARS2‐related disorders.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1556, doi. 10.1002/ajmg.a.61188
By:
- Srivastava, Siddharth;
- Butala, Ankur;
- Mahida, Sonal;
- Richter, John;
- Mu, Weiyi;
- Poretti, Andrea;
- Vernon, Hilary;
- VanGerpen, Jay;
- Atwal, Paldeep S.;
- Middlebrooks, Erik H.;
- Zee, David S.;
- Naidu, SakkuBai
Publication type:
Article
Racial differences in the dermatological manifestations of tuberous sclerosis complex and the potential effects on diagnosis and care.
Published in:
Therapeutic Advances in Rare Disease, 2022, v. 3, p. 1, doi. 10.1177/26330040221140125
By:
- Pounders, Ashley J.;
- Rushing, Gabrielle V.;
- Mahida, Sonal;
- Sanny Nonyane, Bareng Aletta;
- Thomas, Emily A.;
- Tameez, Rabiah Sundus;
- Gipson, Tanjala T.
Publication type:
Article
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Published in:
Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0286-0
By:
- Kim, Hyung-Goo;
- Rosenfeld, Jill A.;
- Scott, Daryl A.;
- Bénédicte, Gerard;
- Labonne, Jonathan D.;
- Brown, Jason;
- McGuire, Marianne;
- Mahida, Sonal;
- Naidu, Sakkubai;
- Gutierrez, Jacqueline;
- Lesca, Gaetan;
- des Portes, Vincent;
- Bruel, Ange-Line;
- Sorlin, Arthur;
- Xia, Fan;
- Capri, Yline;
- Muller, Eric;
- McKnight, Dianalee;
- Torti, Erin;
- Rüschendorf, Franz
Publication type:
Article
CIC-Related Neurodevelopmental Disorder: A Review of the Literature and an Expansion of Genotype and Phenotype.
Published in:
Genes, 2024, v. 15, n. 11, p. 1425, doi. 10.3390/genes15111425
By:
- Ruiz, Ivan;
- Wiltrout, Kimberly;
- Stredny, Coral;
- Mahida, Sonal
Publication type:
Article
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder.
Published in:
Genes, 2024, v. 15, n. 4, p. 423, doi. 10.3390/genes15040423
By:
- Cordova, Ineke;
- Blesson, Alyssa;
- Savatt, Juliann M.;
- Sveden, Abigail;
- Mahida, Sonal;
- Hazlett, Heather;
- Rooney Riggs, Erin;
- Chopra, Maya
Publication type:
Article
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 6, p. 2285, doi. 10.1093/brain/awac461
By:
- Deshwar, Ashish R;
- Cytrynbaum, Cheryl;
- Murthy, Harsha;
- Zon, Jessica;
- Chitayat, David;
- Volpatti, Jonathan;
- Newbury-Ecob, Ruth;
- Ellard, Sian;
- Allen, Hana Lango;
- Yu, Emily P;
- Noche, Ramil;
- Walker, Suzi;
- Scherer, Stephen W;
- Mahida, Sonal;
- Elitt, Christopher M;
- Nicolas, Gaël;
- Goldenberg, Alice;
- Saugier-Veber, Pascale;
- Lecoquierre, Francois;
- Dabaj, Ivana
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
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Published in:
JAMA Network Open, 2023, v. 6, n. 7, p. e2324380, doi. 10.1001/jamanetworkopen.2023.24380
By:
- Koh, Hyun Yong;
- Smith, Lacey;
- Wiltrout, Kimberly N.;
- Podury, Archana;
- Chourasia, Nitish;
- D'Gama, Alissa M.;
- Park, Meredith;
- Knight, Devon;
- Sexton, Emma L.;
- Koh, Julia J.;
- Oby, Brandon;
- Pinsky, Rebecca;
- Shao, Diane D.;
- French, Courtney E.;
- Shao, Wanqing;
- Rockowitz, Shira;
- Sliz, Piotr;
- Zhang, Bo;
- Mahida, Sonal;
- Moufawad El Achkar, Christelle
Publication type:
Article
Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions.
Published in:
Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 304, doi. 10.1002/jgc4.1093
By:
- Li, Xin;
- Nusbaum, Rachel;
- Dixon, Shannan;
- Smith‐Hicks, Constance;
- Mahida, Sonal;
- Jamal, Leila
Publication type:
Article
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16294-6
By:
- Asselin, Laure;
- Rivera Alvarez, José;
- Heide, Solveig;
- Bonnet, Camille S.;
- Tilly, Peggy;
- Vitet, Hélène;
- Weber, Chantal;
- Bacino, Carlos A.;
- Baranaño, Kristin;
- Chassevent, Anna;
- Dameron, Amy;
- Faivre, Laurence;
- Hanchard, Neil A.;
- Mahida, Sonal;
- McWalter, Kirsty;
- Mignot, Cyril;
- Nava, Caroline;
- Rastetter, Agnès;
- Streff, Haley;
- Thauvin-Robinet, Christel
Publication type:
Article
KCNQ2‐DEE: developmental or epileptic encephalopathy?
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 666, doi. 10.1002/acn3.51316
By:
- Berg, Anne T.;
- Mahida, Sonal;
- Poduri, Annapurna
Publication type:
Article
Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 716, doi. 10.1002/acn3.51272
By:
- McGraw, Christopher M.;
- Mahida, Sonal;
- Jayakar, Parul;
- Koh, Hyun Yong;
- Taylor, Alan;
- Resnick, Trevor;
- Rodan, Lance;
- Schwartz, Marc A.;
- Ejaz, Ayesha;
- Sankaran, Vijay G.;
- Berry, Gerard;
- Poduri, Annapurna
Publication type:
Article
Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 7, p. e143, doi. 10.1111/epi.17627
By:
- Knight, Devon;
- Mahida, Sonal;
- Kelly, Mckenna;
- Poduri, Annapurna;
- Olson, Heather E.
Publication type:
Article
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 2, p. 249, doi. 10.1111/epi.16427
By:
- Rochtus, Anne;
- Olson, Heather E.;
- Smith, Lacey;
- Keith, Louisa G.;
- El Achkar, Christelle;
- Taylor, Alan;
- Mahida, Sonal;
- Park, Meredith;
- Kelly, McKenna;
- Shain, Catherine;
- Rockowitz, Shira;
- Rosen Sheidley, Beth;
- Poduri, Annapurna
Publication type:
Article