| Year |
Citation |
Score |
| 2024 |
Borroto MC, Michaud C, Hudon C, Agrawal PB, Agre K, Applegate CD, Beggs AH, Bjornsson HT, Callewaert B, Chen MJ, Curry C, Devinsky O, Dudding-Byth T, Fagan K, Finnila CR, et al. A Genotype/Phenotype Study of -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes. 15. PMID 39202393 DOI: 10.3390/genes15081033 |
0.517 |
|
| 2024 |
Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, ... ... Agrawal PB, et al. Genome Sequencing for Diagnosing Rare Diseases. The New England Journal of Medicine. 390: 1985-1997. PMID 38838312 DOI: 10.1056/NEJMoa2314761 |
0.52 |
|
| 2024 |
Li Q, Lin J, Luo S, Schmitz-Abe K, Agrawal R, Meng M, Moghadaszadeh B, Beggs AH, Liu X, Perrella MA, Agrawal PB. Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex. Journal of Cachexia, Sarcopenia and Muscle. PMID 38725372 DOI: 10.1002/jcsm.13470 |
0.75 |
|
| 2024 |
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, ... ... Agrawal PB, et al. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. American Journal of Human Genetics. PMID 38565148 DOI: 10.1016/j.ajhg.2024.03.008 |
0.543 |
|
| 2023 |
Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Straub V, Stenton SL, Snow H, ... ... Agrawal PB, et al. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. Medrxiv : the Preprint Server For Health Sciences. PMID 38328047 DOI: 10.1101/2023.08.08.23293829 |
0.521 |
|
| 2023 |
Hills S, Li Q, Madden JA, Genetti CA, Brownstein CA, Schmitz-Abe K, Beggs AH, Agrawal PB. High number of candidate gene variants are identified as disease-causing in a period of 4 years. American Journal of Medical Genetics. Part A. PMID 38158391 DOI: 10.1002/ajmg.a.63509 |
0.557 |
|
| 2023 |
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, ... ... Agrawal PB, et al. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. Medrxiv : the Preprint Server For Health Sciences. PMID 37873196 DOI: 10.1101/2023.10.05.23296595 |
0.532 |
|
| 2023 |
Green RC, Shah N, Genetti CA, Yu T, Zettler B, Uveges MK, Ceyhan-Birsoy O, Lebo MS, Pereira S, Agrawal PB, Parad RB, McGuire AL, Christensen KD, Schwartz TS, Rehm HL, et al. Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. American Journal of Human Genetics. PMID 37279760 DOI: 10.1016/j.ajhg.2023.05.007 |
0.463 |
|
| 2023 |
Li Q, Lin J, Luo S, Schmitz-Abe K, Agrawal R, Meng M, Moghadaszadeh B, Beggs AH, Liu X, Perrella MA, Agrawal PB. Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex. Biorxiv : the Preprint Server For Biology. PMID 37162921 DOI: 10.1101/2023.04.24.538136 |
0.751 |
|
| 2023 |
Hojlo MA, Ghebrelul M, Genetti CA, Smith R, Rockowitz S, Deaso E, Beggs AH, Agrawal PB, Glahn DC, Gonzalez-Heydrich J, Brownstein CA. Children with Early-Onset Psychosis Have Increased Burden of Rare Variants. Genes. 14. PMID 37107537 DOI: 10.3390/genes14040779 |
0.488 |
|
| 2023 |
Barros JS, Sanchez SI, Cabral K, Beggs AH, Agrawal PB, Genetti CA, Brownstein CA, Carpenter TO. X-linked hypophosphatemia in 4 generations due to an exon 13-15 duplication in PHEX, in the absence of the c.*231A>G variant. Bone. 116763. PMID 37059315 DOI: 10.1016/j.bone.2023.116763 |
0.466 |
|
| 2023 |
Li Q, Agrawal R, Schmitz-Abe K, Genetti CA, Fernandes MA, Fryou NL, Madden JA, Brownstein CA, Smith EC, Rajabi F, Beggs AH, Agrawal PB. Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders. European Journal of Human Genetics : Ejhg. PMID 36690831 DOI: 10.1038/s41431-023-01291-2 |
0.555 |
|
| 2022 |
Estrella E, Rockowitz S, Thorne M, Smith P, Petit J, Zehnder V, Yu RN, Bauer S, Berde C, Agrawal PB, Beggs AH, Gharavi AG, Kunkel L, Brownstein CA. Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort. Advanced Genetics (Hoboken, N.J.). 4: 2200013. PMID 36910591 DOI: 10.1002/ggn2.202200013 |
0.604 |
|
| 2022 |
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, ... ... Agrawal PB, et al. The Phenotypic Continuum of -Related Disorders. Neurology. 99: e1511-e1526. PMID 36192182 DOI: 10.1212/WNL.0000000000200927 |
0.32 |
|
| 2022 |
Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, ... ... Agrawal PB, et al. The Phenotypic Continuum of -Related Disorders. Neurology. 99: e1511-e1526. PMID 36192182 DOI: 10.1212/WNL.0000000000200927 |
0.32 |
|
| 2022 |
Brownstein CA, Douard E, Mollon J, Smith R, Hojlo MA, Das A, Goldman M, Garvey E, Cabral K, Li J, Bowen J, Rao AS, Genetti C, Carroll D, Knowles EEM, ... ... Agrawal PB, et al. Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum Disorder. The American Journal of Psychiatry. appiajp21111175. PMID 36000218 DOI: 10.1176/appi.ajp.21111175 |
0.473 |
|
| 2022 |
Li Q, Lin J, Widrick JJ, Luo S, Li G, Zhang Y, Laporte J, Perrella MA, Liu X, Agrawal PB. Dynamin-2 reduction rescues the skeletal myopathy of SPEG-deficient mouse model. Jci Insight. PMID 35763354 DOI: 10.1172/jci.insight.157336 |
0.318 |
|
| 2021 |
Li Q, Madden JA, Lin J, Shi J, Rosen SM, Schmitz-Abe K, Agrawal PB. Reanalysis of Exome Data Identifies Novel Variants Associated with Leigh Syndrome. Journal of Personalized Medicine. 11. PMID 34945750 DOI: 10.3390/jpm11121277 |
0.324 |
|
| 2021 |
De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Löscher BS, Franke A, et al. Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases. Genome Medicine. 13: 153. PMID 34645491 DOI: 10.1186/s13073-021-00965-0 |
0.512 |
|
| 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, ... ... Agrawal PB, 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 |
0.32 |
|
| 2021 |
Parikh JR, Genetti CA, Aykanat A, Brownstein CA, Schmitz-Abe K, Danowski M, Quitadomo A, Madden JA, Yacoubian C, Gain R, Williams T, Meskell M, Brown A, Frith A, Rockowitz S, ... ... Agrawal PB, et al. A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders. Hgg Advances. 2. PMID 34514437 DOI: 10.1016/j.xhgg.2021.100035 |
0.47 |
|
| 2021 |
Luo S, Rosen SM, Li Q, Agrawal PB. Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease. International Journal of Molecular Sciences. 22. PMID 34072258 DOI: 10.3390/ijms22115732 |
0.302 |
|
| 2021 |
Wojcik MH, Zhang T, Ceyhan-Birsoy O, Genetti CA, Lebo MS, Yu TW, Parad RB, Holm IA, Rehm HL, Beggs AH, Green RC, Agrawal PB. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33772220 DOI: 10.1038/s41436-021-01146-5 |
0.502 |
|
| 2021 |
Li J, Hojlo MA, Chennuri S, Gujral N, Paterson HL, Shefchek KA, Genetti CA, Cohn EL, Sewalk KC, Garvey EA, Buttermore ED, Anderson NC, Beggs AH, Agrawal PB, Brownstein JS, et al. Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. Journal of Medical Internet Research. 23: e21023. PMID 33724192 DOI: 10.2196/21023 |
0.457 |
|
| 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, ... ... Agrawal PB, 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 |
0.444 |
|
| 2021 |
Brownstein CA, Smith RS, Rodan LH, Gorman MP, Hojlo MA, Garvey EA, Li J, Cabral K, Bowen JJ, Rao AS, Genetti CA, Carroll D, Deaso EA, Agrawal PB, Rosenfeld JA, et al. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Molecular Psychiatry. PMID 33597717 DOI: 10.1038/s41380-021-01035-y |
0.547 |
|
| 2021 |
Luo S, Li Q, Lin J, Murphy Q, Marty I, Zhang Y, Kazerounian S, Agrawal PB. SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins. Human Molecular Genetics. 29: 3882-3891. PMID 33355670 DOI: 10.1093/hmg/ddaa276 |
0.316 |
|
| 2020 |
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, et al. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. American Journal of Medical Genetics. Part A. PMID 33098347 DOI: 10.1002/ajmg.a.61926 |
0.561 |
|
| 2020 |
Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, et al. Children's rare disease cohorts: an integrative research and clinical genomics initiative. Npj Genomic Medicine. 5: 29. PMID 32655885 DOI: 10.1038/S41525-020-0137-0 |
0.494 |
|
| 2020 |
Rosen SM, Joshi M, Hitt T, Beggs AH, Agrawal PB. Knockin mouse model of the human CFL2 p.A35T mutation results in a unique splicing defect and severe myopathy phenotype. Human Molecular Genetics. PMID 32160286 DOI: 10.1093/Hmg/Ddaa035 |
0.558 |
|
| 2019 |
Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF. FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. Npj Genomic Medicine. 4: 32. PMID 31839987 DOI: 10.1038/S41525-019-0105-8 |
0.46 |
|
| 2019 |
Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, et al. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31780822 DOI: 10.1038/S41436-019-0708-6 |
0.477 |
|
| 2019 |
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, ... ... Agrawal PB, et al. Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Human Mutation. PMID 31646703 DOI: 10.1002/Humu.23936 |
0.311 |
|
| 2019 |
Boone PM, Paterson S, Mohajeri K, Zhu W, Genetti CA, Tai DJC, Nori N, Agrawal PB, Bacino CA, Bi W, Talkowski ME, Hogan BM, Rodan LH. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome. American Journal of Medical Genetics. Part A. PMID 31633297 DOI: 10.1002/Ajmg.A.61392 |
0.327 |
|
| 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, ... ... Agrawal PB, et al. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. The New England Journal of Medicine. PMID 31597037 DOI: 10.1056/Nejmoa1813279 |
0.476 |
|
| 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 |
0.302 |
|
| 2019 |
Schmitz-Abe K, Li Q, Rosen SM, Nori N, Madden JA, Genetti CA, Wojcik MH, Ponnaluri S, Gubbels CS, Picker JD, O'Donnell-Luria AH, Yu TW, Bodamer O, Brownstein CA, Beggs AH, ... Agrawal PB, et al. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. European Journal of Human Genetics : Ejhg. PMID 30979967 DOI: 10.1038/S41431-019-0401-X |
0.514 |
|
| 2019 |
Taylor DM, Aronow BJ, Tan K, Bernt K, Salomonis N, Greene CS, Frolova A, Henrickson SE, Wells A, Pei L, Jaiswal JK, Whitsett J, Hamilton KE, MacParland SA, Kelsen J, ... ... Agrawal PB, et al. The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution. Developmental Cell. PMID 30930166 DOI: 10.1016/J.Devcel.2019.03.001 |
0.438 |
|
| 2019 |
Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, et al. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms. European Journal of Human Genetics : Ejhg. PMID 30679813 DOI: 10.1038/S41431-018-0292-2 |
0.345 |
|
| 2019 |
Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH, et al. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. American Journal of Human Genetics. 104: 76-93. PMID 30609409 DOI: 10.1016/J.Ajhg.2018.11.016 |
0.503 |
|
| 2018 |
Mavros CF, Brownstein CA, Thyagrajan R, Genetti CA, Tembulkar S, Graber K, Murphy Q, Cabral K, VanNoy GE, Bainbridge M, Shi J, Agrawal PB, Beggs AH, D'Angelo E, Gonzalez-Heydrich J. De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report. Bmc Medical Genetics. 19: 197. PMID 30424743 DOI: 10.1186/S12881-018-0711-9 |
0.471 |
|
| 2018 |
Qualls AE, Donkervoort S, Herkert JC, D'Gama AM, Bharucha-Goebel D, Collins J, Chao KR, Foley AR, Schoots MH, Jongbloed JDH, Bönnemann CG, Agrawal PB. Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations. Muscle & Nerve. PMID 30412272 DOI: 10.1002/Mus.26378 |
0.329 |
|
| 2018 |
Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, et al. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30209271 DOI: 10.1038/S41436-018-0105-6 |
0.438 |
|
| 2018 |
Fan X, Xie B, Zou J, Luo J, Qin Z, D'Gama AM, Shi J, Yi S, Yang Q, Wang J, Luo S, Chen S, Agrawal PB, Li Q, Shen Y. Novel mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism Reports. 16: 15-19. PMID 29988809 DOI: 10.1016/j.ymgmr.2018.05.007 |
0.339 |
|
| 2018 |
Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, et al. The BabySeq project: implementing genomic sequencing in newborns. Bmc Pediatrics. 18: 225. PMID 29986673 DOI: 10.1186/S12887-018-1200-1 |
0.491 |
|
| 2018 |
Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB. Expanding the phenotypic spectrum associated with OPHN1 variants. European Journal of Medical Genetics. PMID 29960046 DOI: 10.1016/J.Ejmg.2018.06.015 |
0.574 |
|
| 2018 |
Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, et al. and compound heterozygous mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Molecular Genetics and Metabolism Reports. 16: 23-29. PMID 29922587 DOI: 10.1016/J.Ymgmr.2018.06.001 |
0.692 |
|
| 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 |
0.533 |
|
| 2018 |
Katwa U, D'Gama AM, Qualls AE, Donovan LM, Heffernan J, Shi J, Agrawal PB. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. American Journal of Medical Genetics. Part A. PMID 29704303 DOI: 10.1002/ajmg.a.38720 |
0.318 |
|
| 2018 |
Huntoon V, Widrick JJ, Sanchez C, Rosen SM, Kutchukian C, Cao S, Pierson CR, Liu X, Perrella MA, Beggs AH, Jacquemond V, Agrawal PB. SPEG-deficient Skeletal Muscles Exhibit Abnormal Triad and Defective Calcium Handling. Human Molecular Genetics. PMID 29474540 DOI: 10.1093/Hmg/Ddy068 |
0.53 |
|
| 2017 |
Cao S, Smith LL, Padilla-Lopez SR, Guida BS, Blume E, Shi J, Morton SU, Brownstein CA, Beggs AH, Kruer MC, Agrawal PB. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Human Molecular Genetics. 26: 3545-3552. PMID 28911200 DOI: 10.1093/Hmg/Ddx239 |
0.556 |
|
| 2017 |
Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, Brownstein CA, Berry GT, Agrawal PB. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. Jimd Reports. PMID 28726122 DOI: 10.1007/8904_2017_45 |
0.458 |
|
| 2017 |
Morton SU, Prabhu SP, Lidov HG, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harbor Molecular Case Studies. 3: a001560. PMID 28299359 DOI: 10.1101/mcs.a001560 |
0.489 |
|
| 2017 |
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, et al. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Human Genetics. PMID 28283832 DOI: 10.1007/S00439-017-1772-0 |
0.349 |
|
| 2017 |
Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, et al. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. PMID 28096516 DOI: 10.1542/Peds.2016-2252 |
0.481 |
|
| 2017 |
Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. A curated gene list for reporting results of newborn genomic sequencing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28079900 DOI: 10.1038/Gim.2016.193 |
0.503 |
|
| 2016 |
Morton SU, Neilan EG, Peake RW, Shi J, Schmitz-Abe K, Towne M, Markianos K, Prabhu SP, Agrawal PB. Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. Jimd Reports. PMID 27858371 DOI: 10.1007/8904_2016_17 |
0.331 |
|
| 2016 |
Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB. Novel Mutation in CNTNAP1 results in Congenital Hypomyelinating Neuropathy. Muscle & Nerve. PMID 27668699 DOI: 10.1002/Mus.25416 |
0.524 |
|
| 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, ... Agrawal PB, 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 |
0.56 |
|
| 2016 |
Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatric Neurology. PMID 27600546 DOI: 10.1016/J.Pediatrneurol.2016.07.012 |
0.401 |
|
| 2015 |
Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. PMID 26395884 DOI: 10.1007/S10048-015-0460-2 |
0.584 |
|
| 2015 |
Morton SU, Joshi M, Savic T, Beggs AH, Agrawal PB. Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. Plos One. 10: e0123829. PMID 25874796 DOI: 10.1371/Journal.Pone.0123829 |
0.534 |
|
| 2015 |
Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. The Journal of Clinical Endocrinology and Metabolism. 100: 1723-30. PMID 25781356 DOI: 10.1210/Jc.2014-4215 |
0.471 |
|
| 2014 |
Agrawal PB, Joshi M, Marinakis NS, Schmitz-Abe K, Ciarlini PD, Sargent JC, Markianos K, De Girolami U, Chad DA, Beggs AH. Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. Jama Neurology. 71: 1413-20. PMID 25264603 DOI: 10.1001/Jamaneurol.2014.1432 |
0.565 |
|
| 2014 |
Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, HaliloÄŸlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, et al. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. American Journal of Human Genetics. 95: 218-26. PMID 25087613 DOI: 10.1016/J.Ajhg.2014.07.004 |
0.768 |
|
| 2014 |
Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. European Journal of Human Genetics : Ejhg. 22: 1229-32. PMID 24549054 DOI: 10.1038/Ejhg.2014.8 |
0.537 |
|
| 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 |
0.515 |
|
| 2013 |
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 81: 1205-14. PMID 23975875 DOI: 10.1212/Wnl.0B013E3182A6Ca62 |
0.699 |
|
| 2013 |
Touma M, Joshi M, Connolly MC, Grant PE, Hansen AR, Khwaja O, Berry GT, Kinney HC, Poduri A, Agrawal PB. Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. Epilepsia. 54: e81-5. PMID 23550958 DOI: 10.1111/Epi.12137 |
0.306 |
|
| 2012 |
Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. American Journal of Human Genetics. 91: 365-71. PMID 22818856 DOI: 10.1016/J.Ajhg.2012.06.012 |
0.61 |
|
| 2012 |
Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH. Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Human Molecular Genetics. 21: 2341-56. PMID 22343409 DOI: 10.1093/Hmg/Dds053 |
0.528 |
|
| 2007 |
Pierson CR, Agrawal PB, Blasko J, Beggs AH. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscular Disorders : Nmd. 17: 562-8. PMID 17537630 DOI: 10.1016/J.Nmd.2007.03.010 |
0.511 |
|
| 2006 |
Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. American Journal of Human Genetics. 80: 162-7. PMID 17160903 DOI: 10.1086/510402 |
0.53 |
|
| 2005 |
Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. X-linked myotubular and centronuclear myopathies. Journal of Neuropathology and Experimental Neurology. 64: 555-64. PMID 16042307 DOI: 10.1097/01.Jnen.0000171653.17213.2E |
0.759 |
|
| 2004 |
Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Annals of Neurology. 56: 86-96. PMID 15236405 DOI: 10.1002/Ana.20157 |
0.589 |
|
| Show low-probability matches. |