| Year |
Citation |
Score |
| 2024 |
D'Gama AM, Hills S, Douglas J, Young V, Genetti CA, Wojcik MH, Feldman HA, Yu TW, G Parker M, Agrawal PB. Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. Bmj Open. 14: e080529. PMID 38320840 DOI: 10.1136/bmjopen-2023-080529 |
0.67 |
|
| 2023 |
Lai J, Demirbas D, Kim J, Jeffries AM, Tolles A, Park J, Chittenden TW, Buckley PG, Yu TW, Lodato MA, Lee EA. ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia. Cell Reports. 43: 113622. PMID 38159274 DOI: 10.1016/j.celrep.2023.113622 |
0.723 |
|
| 2023 |
Zhao B, Nguyen MA, Woo S, Kim J, Yu TW, Lee EA. Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia. American Journal of Human Genetics. PMID 37802069 DOI: 10.1016/j.ajhg.2023.09.008 |
0.727 |
|
| 2023 |
Kim J, Woo S, de Gusmao CM, Zhao B, Chin DH, DiDonato RL, Nguyen MA, Nakayama T, Hu CA, Soucy A, Kuniholm A, Thornton JK, Riccardi O, Friedman DA, El Achkar CM, ... ... Yu TW, et al. A framework for individualized splice-switching oligonucleotide therapy. Nature. PMID 37438524 DOI: 10.1038/s41586-023-06277-0 |
0.705 |
|
| 2022 |
Vockley J, Aartsma-Rus A, Cohen JL, Cowsert LM, Howell RR, Yu TW, Wasserstein MP, Defay T. Whole-genome sequencing holds the key to the success of gene-targeted therapies. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 36453229 DOI: 10.1002/ajmg.c.32017 |
0.301 |
|
| 2022 |
D'Gama AM, Del Rosario MC, Bresnahan MA, Yu TW, Wojcik MH, Agrawal PB. Integrating rapid exome sequencing into NICU clinical care after a pilot research study. Npj Genomic Medicine. 7: 51. PMID 36064943 DOI: 10.1038/s41525-022-00326-9 |
0.699 |
|
| 2022 |
Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, ... ... Yu T, et al. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35997716 DOI: 10.1016/j.gim.2022.07.020 |
0.391 |
|
| 2022 |
Williams LA, Gerber DJ, Elder A, Tseng WC, Baru V, Delaney-Busch N, Ambrosi C, Mahimkar G, Joshi V, Shah H, Harikrishnan K, Upadhyay H, Rajendran SH, Dhandapani A, Meier J, ... ... Yu TW, et al. Developing antisense oligonucleotides for a mutation-induced, ultra-rare neurological disorder using patient-derived cellular models. Molecular Therapy. Nucleic Acids. 29: 189-203. PMID 35860385 DOI: 10.1016/j.omtn.2022.06.015 |
0.35 |
|
| 2021 |
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, ... ... Yu TW, et al. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Molecular Genetics & Genomic Medicine. e1809. PMID 34519438 DOI: 10.1002/mgg3.1809 |
0.352 |
|
| 2021 |
Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, ... ... Yu TW, et al. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33658631 DOI: 10.1038/s41436-021-01114-z |
0.644 |
|
| 2020 |
Schmitz-Abe K, Sanchez-Schmitz G, Doan RN, Hill RS, Chahrour MH, Mehta BK, Servattalab S, Ataman B, Lam AN, Morrow EM, Greenberg ME, Yu TW, Walsh CA, Markianos K. Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. Scientific Reports. 10: 14045. PMID 32820185 DOI: 10.1038/S41598-020-70656-0 |
0.809 |
|
| 2020 |
D'Gama AM, Brucker WJ, Zhang T, Gubbels CS, Ferdinandusse S, Shi J, Grant PE, VanNoy G, Genetti CA, Juusola J, Yu TW, Kritzer A, Agrawal PB. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. American Journal of Medical Genetics. Part A. PMID 32022391 DOI: 10.1002/ajmg.a.61498 |
0.699 |
|
| 2020 |
D'Gama AM, Brucker WJ, Zhang T, Gubbels CS, Ferdinandusse S, Shi J, Grant PE, VanNoy G, Genetti CA, Juusola J, Yu TW, Kritzer A, Agrawal PB. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. American Journal of Medical Genetics. Part A. PMID 32022391 DOI: 10.1002/ajmg.a.61498 |
0.699 |
|
| 2019 |
Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, ... ... Yu TW, et al. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. The New England Journal of Medicine. PMID 31597037 DOI: 10.1056/Nejmoa1813279 |
0.4 |
|
| 2019 |
Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, ... ... Yu TW, et al. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. The New England Journal of Medicine. PMID 31597037 DOI: 10.1056/Nejmoa1813279 |
0.4 |
|
| 2019 |
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. PMID 31327508 DOI: 10.1016/J.Ajhg.2019.06.014 |
0.367 |
|
| 2019 |
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, et al. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. American Journal of Human Genetics. PMID 31327508 DOI: 10.1016/J.Ajhg.2019.06.014 |
0.367 |
|
| 2019 |
Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S, Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW. Recessive gene disruptions in autism spectrum disorder. Nature Genetics. PMID 31209396 DOI: 10.1038/S41588-019-0433-8 |
0.64 |
|
| 2018 |
Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, Vannoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, et al. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: A BabySeq Project case report. Cold Spring Harbor Molecular Case Studies. PMID 29728376 DOI: 10.1101/mcs.a002873 |
0.311 |
|
| 2018 |
Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, Vannoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, et al. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: A BabySeq Project case report. Cold Spring Harbor Molecular Case Studies. PMID 29728376 DOI: 10.1101/mcs.a002873 |
0.311 |
|
| 2017 |
Marsh AP, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, ... ... Yu TW, et al. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome. Human Mutation. PMID 29068161 DOI: 10.1002/Humu.23361 |
0.573 |
|
| 2017 |
Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, et al. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Research. PMID 28630177 DOI: 10.1101/Gr.219899.116 |
0.828 |
|
| 2017 |
Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, et al. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Research. PMID 28630177 DOI: 10.1101/Gr.219899.116 |
0.828 |
|
| 2017 |
Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, ... ... Yu TW, et al. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nature Genetics. PMID 28250456 DOI: 10.1038/Ng.3804 |
0.759 |
|
| 2017 |
Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, ... ... Yu TW, et al. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nature Genetics. PMID 28250456 DOI: 10.1038/Ng.3804 |
0.759 |
|
| 2016 |
Jayaraman D, Kodani A, Gonzalez DM, Mancias JD, Mochida GH, Vagnoni C, Johnson J, Krogan N, Harper JW, Reiter JF, Yu TW, Bae BI, Walsh CA. Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron. 92: 813-828. PMID 27974163 DOI: 10.1016/J.Neuron.2016.09.056 |
0.653 |
|
| 2016 |
Jayaraman D, Kodani A, Gonzalez DM, Mancias JD, Mochida GH, Vagnoni C, Johnson J, Krogan N, Harper JW, Reiter JF, Yu TW, Bae BI, Walsh CA. Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron. 92: 813-828. PMID 27974163 DOI: 10.1016/J.Neuron.2016.09.056 |
0.653 |
|
| 2016 |
Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, et al. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. Journal of Human Genetics. PMID 27708273 DOI: 10.1038/Jhg.2016.116 |
0.448 |
|
| 2016 |
Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, et al. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. Journal of Human Genetics. PMID 27708273 DOI: 10.1038/Jhg.2016.116 |
0.448 |
|
| 2016 |
Wang X, Zhang Z, Morris N, Cai T, Lee S, Wang C, Yu TW, Walsh CA, Lin X. Rare variant association test in family-based sequencing studies. Briefings in Bioinformatics. PMID 27677958 DOI: 10.1093/Bib/Bbw083 |
0.505 |
|
| 2016 |
Wang X, Zhang Z, Morris N, Cai T, Lee S, Wang C, Yu TW, Walsh CA, Lin X. Rare variant association test in family-based sequencing studies. Briefings in Bioinformatics. PMID 27677958 DOI: 10.1093/Bib/Bbw083 |
0.505 |
|
| 2016 |
Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, et al. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harbor Molecular Case Studies. 2: a001008. PMID 27626066 DOI: 10.1101/mcs.a001008 |
0.42 |
|
| 2016 |
Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, et al. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harbor Molecular Case Studies. 2: a001008. PMID 27626066 DOI: 10.1101/mcs.a001008 |
0.42 |
|
| 2015 |
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, ... ... Yu TW, et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 87: 1215-1233. PMID 26402605 DOI: 10.1016/J.Neuron.2015.09.016 |
0.691 |
|
| 2015 |
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, Klei L, Mandell JD, ... ... Yu TW, et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 87: 1215-1233. PMID 26402605 DOI: 10.1016/J.Neuron.2015.09.016 |
0.691 |
|
| 2015 |
Kodani A, Yu TW, Johnson JR, Jayaraman D, Johnson TL, Al-Gazali L, Sztriha L, Partlow JN, Kim H, Krup AL, Dammermann A, Krogan N, Walsh CA, Reiter JF. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. Elife. 4. PMID 26297806 DOI: 10.7554/Elife.07519 |
0.436 |
|
| 2015 |
Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, et al. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biological Psychiatry. 77: 775-84. PMID 25534755 DOI: 10.1016/J.Biopsych.2014.09.017 |
0.665 |
|
| 2015 |
Kodani A, Yu TW, Johnson JR, Jayaraman D, Johnson TL, Al-Gazali L, Sztriha L, Partlow JN, Kim H, Krup AL, Dammermann A, Krogan NJ, Walsh CA, Reiter JF. Author response: Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication Elife. DOI: 10.7554/Elife.07519.038 |
0.364 |
|
| 2014 |
Hu WF, Pomp O, Ben-Omran T, Kodani A, Henke K, Mochida GH, Yu TW, Woodworth MB, Bonnard C, Raj GS, Tan TT, Hamamy H, Masri A, Shboul M, Al Saffar M, et al. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 84: 1240-57. PMID 25521379 DOI: 10.1016/J.Neuron.2014.12.017 |
0.684 |
|
| 2014 |
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, ... ... Yu TW, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515: 209-15. PMID 25363760 DOI: 10.1038/Nature13772 |
0.777 |
|
| 2014 |
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, ... ... Yu TW, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515: 209-15. PMID 25363760 DOI: 10.1038/Nature13772 |
0.777 |
|
| 2014 |
Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, ... ... Yu TW, et al. Somatic mutations in cerebral cortical malformations. The New England Journal of Medicine. 371: 733-43. PMID 25140959 DOI: 10.1056/Nejmoa1314432 |
0.827 |
|
| 2014 |
Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, ... ... Yu TW, et al. Somatic mutations in cerebral cortical malformations. The New England Journal of Medicine. 371: 733-43. PMID 25140959 DOI: 10.1056/Nejmoa1314432 |
0.827 |
|
| 2014 |
Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Human Molecular Genetics. 23: 5781-92. PMID 24925318 DOI: 10.1093/hmg/ddu296 |
0.748 |
|
| 2014 |
Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Human Molecular Genetics. 23: 5781-92. PMID 24925318 DOI: 10.1093/hmg/ddu296 |
0.748 |
|
| 2014 |
Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, et al. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Research : Official Journal of the International Society For Autism Research. 7: 355-62. PMID 24821083 DOI: 10.1002/Aur.1378 |
0.671 |
|
| 2014 |
Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, et al. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Research : Official Journal of the International Society For Autism Research. 7: 355-62. PMID 24821083 DOI: 10.1002/Aur.1378 |
0.671 |
|
| 2014 |
Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology. 15: R53. PMID 24667040 DOI: 10.1186/Gb-2014-15-3-R53 |
0.302 |
|
| 2014 |
Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. American Journal of Human Genetics. 94: 547-58. PMID 24656866 DOI: 10.1016/J.Ajhg.2014.03.003 |
0.765 |
|
| 2014 |
Reiff RE, Ali BR, Baron B, Yu TW, Ben-Salem S, Coulter ME, Schubert CR, Hill RS, Akawi NA, Al-Younes B, Kaya N, Evrony GD, Al-Saffar M, Felie JM, Partlow JN, et al. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Human Molecular Genetics. 23: 3456-66. PMID 24501276 DOI: 10.1093/Hmg/Ddu054 |
0.801 |
|
| 2014 |
Reiff RE, Ali BR, Baron B, Yu TW, Ben-Salem S, Coulter ME, Schubert CR, Hill RS, Akawi NA, Al-Younes B, Kaya N, Evrony GD, Al-Saffar M, Felie JM, Partlow JN, et al. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Human Molecular Genetics. 23: 3456-66. PMID 24501276 DOI: 10.1093/Hmg/Ddu054 |
0.801 |
|
| 2013 |
Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, ... ... Yu TW, et al. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. American Journal of Human Genetics. 93: 1108-17. PMID 24268659 DOI: 10.1016/J.Ajhg.2013.10.020 |
0.41 |
|
| 2013 |
Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, ... ... Yu TW, et al. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. American Journal of Human Genetics. 93: 1108-17. PMID 24268659 DOI: 10.1016/J.Ajhg.2013.10.020 |
0.41 |
|
| 2013 |
Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. European Journal of Medical Genetics. 56: 678-82. PMID 24176758 DOI: 10.1016/J.Ejmg.2013.09.009 |
0.317 |
|
| 2013 |
Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. European Journal of Medical Genetics. 56: 678-82. PMID 24176758 DOI: 10.1016/J.Ejmg.2013.09.009 |
0.317 |
|
| 2013 |
Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscular Disorders : Nmd. 23: 975-80. PMID 24128691 DOI: 10.1016/J.Nmd.2013.08.009 |
0.376 |
|
| 2013 |
Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscular Disorders : Nmd. 23: 975-80. PMID 24128691 DOI: 10.1016/J.Nmd.2013.08.009 |
0.376 |
|
| 2013 |
Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, ... ... Yu TW, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/Ng.2711 |
0.628 |
|
| 2013 |
Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, ... ... Yu TW, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/Ng.2711 |
0.628 |
|
| 2013 |
Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, et al. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biological Psychiatry. 74: 576-84. PMID 23746936 DOI: 10.1016/J.Biopsych.2013.04.018 |
0.639 |
|
| 2013 |
Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, et al. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biological Psychiatry. 74: 576-84. PMID 23746936 DOI: 10.1016/J.Biopsych.2013.04.018 |
0.639 |
|
| 2013 |
Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 77: 259-73. PMID 23352163 DOI: 10.1016/J.Neuron.2012.11.002 |
0.823 |
|
| 2013 |
Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 77: 259-73. PMID 23352163 DOI: 10.1016/J.Neuron.2012.11.002 |
0.823 |
|
| 2013 |
Yu TW, Coulter M, Chahrour M, Walsh CA. Autism Spectrum Disorders Genomic and Personalized Medicine. 2: 1067-1074. DOI: 10.1016/B978-0-12-382227-7.00090-2 |
0.771 |
|
| 2012 |
Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, et al. Common genetic variants, acting additively, are a major source of risk for autism. Molecular Autism. 3: 9. PMID 23067556 DOI: 10.1186/2040-2392-3-9 |
0.679 |
|
| 2012 |
Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, et al. Common genetic variants, acting additively, are a major source of risk for autism. Molecular Autism. 3: 9. PMID 23067556 DOI: 10.1186/2040-2392-3-9 |
0.679 |
|
| 2012 |
Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. American Journal of Human Genetics. 91: 541-7. PMID 22958903 DOI: 10.1016/J.Ajhg.2012.07.009 |
0.815 |
|
| 2012 |
Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR, Greenberg ME, Gabriel SB, Walsh CA. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. Plos Genetics. 8: e1002635. PMID 22511880 DOI: 10.1371/Journal.Pgen.1002635 |
0.839 |
|
| 2012 |
Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR, Greenberg ME, Gabriel SB, Walsh CA. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. Plos Genetics. 8: e1002635. PMID 22511880 DOI: 10.1371/Journal.Pgen.1002635 |
0.839 |
|
| 2012 |
Clapham KR, Yu TW, Ganesh VS, Barry B, Chan Y, Mei D, Parrini E, Funalot B, Dupuis L, Nezarati MM, du Souich C, van Karnebeek C, Guerrini R, Walsh CA. FLNA genomic rearrangements cause periventricular nodular heterotopia. Neurology. 78: 269-78. PMID 22238415 DOI: 10.1212/Wnl.0B013E31824365E4 |
0.77 |
|
| 2012 |
Ganesh V, Poduri A, Yu T, Partlow J, Barry B, Gotoff J, Walsh C. ISDN2012_0212: Whole exome sequencing of right‐sided asymmetric polymicrogyria International Journal of Developmental Neuroscience. 30: 682-682. DOI: 10.1016/J.Ijdevneu.2012.10.035 |
0.733 |
|
| 2011 |
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, ... ... Yu TW, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85. PMID 21658581 DOI: 10.1016/J.Neuron.2011.05.002 |
0.678 |
|
| 2011 |
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, ... ... Yu TW, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85. PMID 21658581 DOI: 10.1016/J.Neuron.2011.05.002 |
0.678 |
|
| 2010 |
Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nature Genetics. 42: 1015-20. PMID 20890278 DOI: 10.1038/Ng.683 |
0.578 |
|
| Show low-probability matches. |