| Year |
Citation |
Score |
| 2024 |
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, ... ... Chao HT, et al. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. American Journal of Human Genetics. 111: 96-118. PMID 38181735 DOI: 10.1016/j.ajhg.2023.12.004 |
0.755 |
|
| 2023 |
Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, ... ... Chao HT, et al. Rare variants in cause delayed development, intellectual disability, autism, and epilepsy. Medrxiv : the Preprint Server For Health Sciences. PMID 37034625 DOI: 10.1101/2023.03.27.23287689 |
0.756 |
|
| 2023 |
Corriveau ML, Amaya SI, Koebel MC, Lerma VC, Michener SL, Turner A, Schultz RJ, Seto ES, Diaz-Medina GE, Craigen WJ, Swann JW, Xue M, Chao HT. PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature. American Journal of Medical Genetics. Part A. PMID 36905087 DOI: 10.1002/ajmg.a.63177 |
0.764 |
|
| 2023 |
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, ... ... Chao HT, et al. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. American Journal of Human Genetics. 110: 548. PMID 36868207 DOI: 10.1016/j.ajhg.2023.02.010 |
0.811 |
|
| 2022 |
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, ... ... Chao HT, et al. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. American Journal of Human Genetics. PMID 36528028 DOI: 10.1016/j.ajhg.2022.11.011 |
0.852 |
|
| 2022 |
Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O'Heir E, O'Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Azamian MS, Chao HT, Pham L, et al. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain. American Journal of Medical Genetics. Part A. PMID 35934918 DOI: 10.1002/ajmg.a.62940 |
0.737 |
|
| 2022 |
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, ... ... Chao HT, et al. ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. Annals of Clinical and Translational Neurology. PMID 35871307 DOI: 10.1002/acn3.51629 |
0.762 |
|
| 2022 |
Deisseroth CA, Lerma VC, Magyar CL, Pfliger JM, Nayak A, Bliss ND, LeMaire AW, Narayanan V, Balak C, Zanni G, Valente EM, Bertini E, Benke PJ, Wangler MF, Chao HT. An integrated phenotypic and genotypic approach reveals a high-risk subtype association for EBF3 missense variants affecting the zinc finger domain. Annals of Neurology. PMID 35340043 DOI: 10.1002/ana.26359 |
0.744 |
|
| 2022 |
Marcogliese PC, Deal SL, Andrews J, Harnish JM, Bhavana VH, Graves HK, Jangam S, Luo X, Liu N, Bei D, Chao YH, Hull B, Lee PT, Pan H, Bhadane P, ... ... Chao HT, et al. Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases. Cell Reports. 38: 110517. PMID 35294868 DOI: 10.1016/j.celrep.2022.110517 |
0.778 |
|
| 2022 |
Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB, Bacino CA, Lee BH, Chao HT. PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. American Journal of Medical Genetics. Part A. PMID 35194938 DOI: 10.1002/ajmg.a.62704 |
0.829 |
|
| 2020 |
Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Müller MF, Yépez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, et al. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. The Journal of Clinical Investigation. PMID 33001864 DOI: 10.1172/JCI141500 |
0.437 |
|
| 2020 |
Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF, Chao HT, Long H, Feng L, et al. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. American Journal of Human Genetics. PMID 32330417 DOI: 10.1016/J.Ajhg.2020.04.001 |
0.839 |
|
| 2020 |
Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, ... ... Chao HT, et al. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. American Journal of Human Genetics. PMID 32197074 DOI: 10.1016/J.Ajhg.2020.02.016 |
0.835 |
|
| 2020 |
Chen W, Cai ZL, Chao ES, Chen H, Longley CM, Hao S, Chao HT, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M. haploinsufficiency impairs inhibition and mediates key neurological features of encephalopathy. Elife. 9. PMID 32073399 DOI: 10.7554/Elife.48705 |
0.777 |
|
| 2020 |
Chen W, Cai Z, Chao ES, Chen H, Longley CM, Hao S, Chao H, Kim JH, Messier JE, Zoghbi HY, Tang J, Swann JW, Xue M. Author response: Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy Elife. DOI: 10.7554/Elife.48705.Sa2 |
0.692 |
|
| 2019 |
Harnish JM, Deal SL, Chao HT, Wangler MF, Yamamoto S. In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila. Journal of Visualized Experiments : Jove. PMID 31498321 DOI: 10.3791/59658 |
0.737 |
|
| 2019 |
Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, ... ... Chao HT, et al. DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31263215 DOI: 10.1038/S41436-019-0576-0 |
0.358 |
|
| 2018 |
Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, Belmont JW, Lee BH, Bacino CA, Chao HT. Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. American Journal of Medical Genetics. Part A. PMID 30569621 DOI: 10.1002/Ajmg.A.61007 |
0.411 |
|
| 2017 |
Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, ... ... Chao HT, et al. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Medicine. 9: 83. PMID 28934986 DOI: 10.1186/S13073-017-0472-7 |
0.639 |
|
| 2017 |
Wangler MF, Yamamoto S, Chao HT, Posey JE, Westerfield M, Postlethwait J, Hieter P, Boycott KM, Campeau PM, Bellen HJ. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. Genetics. 207: 9-27. PMID 28874452 DOI: 10.1534/Genetics.117.203067 |
0.725 |
|
| 2017 |
Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. American Journal of Medical Genetics. Part A. PMID 28815871 DOI: 10.1002/Ajmg.A.38388 |
0.601 |
|
| 2017 |
Chao HT, Liu L, Bellen HJ. Building dialogues between clinical and biomedical research through cross-species collaborations. Seminars in Cell & Developmental Biology. PMID 28579453 DOI: 10.1016/J.Semcdb.2017.05.022 |
0.663 |
|
| 2017 |
Wang J, Al-Ouran R, Hu Y, Kim SY, Wan YW, Wangler MF, Yamamoto S, Chao HT, Comjean A, Mohr SE, Perrimon N, Liu Z, Bellen HJ. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. American Journal of Human Genetics. PMID 28502612 DOI: 10.1016/J.Ajhg.2017.04.010 |
0.785 |
|
| 2016 |
Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG, et al. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. American Journal of Human Genetics. PMID 28017372 DOI: 10.1016/J.Ajhg.2016.11.018 |
0.807 |
|
| 2014 |
Chang CL, Trimbuch T, Chao HT, Jordan JC, Herman MA, Rosenmund C. Investigation of synapse formation and function in a glutamatergic-GABAergic two-neuron microcircuit. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 34: 855-68. PMID 24431444 DOI: 10.1523/Jneurosci.0229-13.2014 |
0.737 |
|
| 2013 |
Jiang M, Ash RT, Baker SA, Suter B, Ferguson A, Park J, Rudy J, Torsky SP, Chao HT, Zoghbi HY, Smirnakis SM. Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 19518-33. PMID 24336718 DOI: 10.1523/Jneurosci.1745-13.2013 |
0.715 |
|
| 2012 |
Chao HT, Zoghbi HY. MeCP2: only 100% will do. Nature Neuroscience. 15: 176-7. PMID 22281712 DOI: 10.1038/Nn.3027 |
0.537 |
|
| 2011 |
Wagnon JL, Mahaffey CL, Sun W, Yang Y, Chao HT, Frankel WN. Etiology of a genetically complex seizure disorder in Celf4 mutant mice. Genes, Brain, and Behavior. 10: 765-77. PMID 21745337 DOI: 10.1111/J.1601-183X.2011.00717.X |
0.414 |
|
| 2010 |
Chao HT, Chen H, Samaco RC, Xue M, Chahrour M, Yoo J, Neul JL, Gong S, Lu HC, Heintz N, Ekker M, Rubenstein JL, Noebels JL, Rosenmund C, Zoghbi HY. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 468: 263-9. PMID 21068835 DOI: 10.1038/Nature09582 |
0.798 |
|
| 2010 |
Xue M, Craig TK, Xu J, Chao HT, Rizo J, Rosenmund C. Binding of the complexin N terminus to the SNARE complex potentiates synaptic-vesicle fusogenicity. Nature Structural & Molecular Biology. 17: 568-75. PMID 20400951 DOI: 10.1038/Nsmb.1791 |
0.665 |
|
| 2009 |
Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proceedings of the National Academy of Sciences of the United States of America. 106: 21966-71. PMID 20007372 DOI: 10.1073/pnas.0912257106 |
0.794 |
|
| 2009 |
Rose MF, Ren J, Ahmad KA, Chao HT, Klisch TJ, Flora A, Greer JJ, Zoghbi HY. Math1 is essential for the development of hindbrain neurons critical for perinatal breathing. Neuron. 64: 341-54. PMID 19914183 DOI: 10.1016/J.Neuron.2009.10.023 |
0.789 |
|
| 2009 |
Chao HT, Zoghbi HY. The yin and yang of MeCP2 phosphorylation. Proceedings of the National Academy of Sciences of the United States of America. 106: 4577-8. PMID 19293386 DOI: 10.1073/Pnas.0901518106 |
0.619 |
|
| 2008 |
Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, Moretti P, McGill BE, Goulding EH, Sullivan E, Tecott LH, Zoghbi HY. Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron. 59: 947-58. PMID 18817733 DOI: 10.1016/J.Neuron.2008.07.030 |
0.791 |
|
| 2008 |
Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, Sun Y, Greer JJ, Zoghbi HY, Neul JL. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Human Molecular Genetics. 17: 1718-27. PMID 18321864 DOI: 10.1093/Hmg/Ddn062 |
0.811 |
|
| 2007 |
Chao HT, Zoghbi HY, Rosenmund C. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron. 56: 58-65. PMID 17920015 DOI: 10.1016/J.Neuron.2007.08.018 |
0.691 |
|
| 2007 |
Xue M, Reim K, Chen X, Chao HT, Deng H, Rizo J, Brose N, Rosenmund C. Distinct domains of complexin I differentially regulate neurotransmitter release. Nature Structural & Molecular Biology. 14: 949-58. PMID 17828276 DOI: 10.1038/Nsmb1292 |
0.647 |
|
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