Avinash Dharmadhikari, PhD
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| Title(s) | Assistant Professor of Clinical Pathology |
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| School | Keck School of Medicine of Usc |
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| Address | 4640 West Sunset Blvd
Off Campus
Los Angeles CA 90027
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| vCard | Download vCard |
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Bibliographic
Altmetrics Details
PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media.
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Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication.
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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genet Med. 2022 09; 24(9):1899-1908.
Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, Krause A, Liao J, Lumaka A, Mah M, Maloney CM, Mohan S, Osei-Owusu IA, Reble E, Rennie O, Savatt JM, Shimelis H, Siegert RK, Sneddon TP, Thaxton C, Toner KA, Tran KT, Webb R, Wilcox EH, Yin J, Zhuo X, Znidarsic M, Martin CL, Betancur C, Vorstman JAS, Miller DT, Schaaf CP. PMID: 35616647; PMCID: PMC10200330.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Whole-exome sequencing detects PYGM variants in two adults with McArdle disease. Cold Spring Harb Mol Case Stud. 2022 02; 8(2).
Thomas-Wilson A, Dharmadhikari AV, Heymann JJ, Jobanputra V, DiMauro S, Hirano M, Naini AB, Ganapathi M. PMID: 35022222; PMCID: PMC8958908.
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PubMed Mentions: Fields:
Translation:
Humans
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Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency. Orphanet J Rare Dis. 2020 11 13; 15(1):320.
Abdelhakim AH, Dharmadhikari AV, Ragi SD, de Carvalho JRL, Xu CL, Thomas AL, Buchovecky CM, Mansukhani MM, Naini AB, Liao J, Jobanputra V, Maumenee IH, Tsang SH. PMID: 33187544; PMCID: PMC7662744.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Causal Genetic Variants in Stillbirth. N Engl J Med. 2020 09 17; 383(12):1107-1116.
Stanley KE, Giordano J, Thorsten V, Buchovecky C, Thomas A, Ganapathi M, Liao J, Dharmadhikari AV, Revah-Politi A, Ernst M, Lippa N, Holmes H, Povysil G, Hostyk J, Parker CB, Goldenberg R, Saade GR, Dudley DJ, Pinar H, Hogue C, Reddy UM, Silver RM, Aggarwal V, Allen AS, Wapner RJ, Goldstein DB. PMID: 32786180; PMCID: PMC7604888.
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PubMed Mentions:
35 Fields:
Translation:
Humans
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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30.
Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W. PMID: 31101064; PMCID: PMC6525387.
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PubMed Mentions:
24 Fields:
Translation:
Humans
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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 09 28; 10(1):74.
Normand EA, Braxton A, Nassef S, Ward PA, Vetrini F, He W, Patel V, Qu C, Westerfield LE, Stover S, Dharmadhikari AV, Muzny DM, Gibbs RA, Dai H, Meng L, Wang X, Xiao R, Liu P, Bi W, Xia F, Walkiewicz M, Van den Veyver IB, Eng CM, Yang Y. PMID: 30266093; PMCID: PMC6162951.
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PubMed Mentions:
54 Fields:
Translation:
Humans
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994.
Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ. PMID: 29656860; PMCID: PMC5986698.
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PubMed Mentions:
36 Fields:
Translation:
HumansAnimalsCells
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. PMID: 28973083; PMCID: PMC6359927.
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PubMed Mentions:
201 Fields:
Translation:
Humans
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Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression. Biol Open. 2016 Nov 15; 5(11):1595-1606.
Dharmadhikari AV, Sun JJ, Gogolewski K, Carofino BL, Ustiyan V, Hill M, Majewski T, Szafranski P, Justice MJ, Ray RS, Dickinson ME, Kalinichenko VV, Gambin A, Stankiewicz P. PMID: 27638768; PMCID: PMC5155529.
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PubMed Mentions:
12 Fields:
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.
Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YWY, Mok GTK, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P. PMID: 27071622; PMCID: PMC5518754.
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PubMed Mentions:
49 Fields:
Translation:
HumansCells
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Inhaled drug treatment for tuberculosis: Past progress and future prospects. J Control Release. 2016 10 28; 240:127-134.
Hickey AJ, Durham PG, Dharmadhikari A, Nardell EA. PMID: 26596254.
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PubMed Mentions:
26 Fields:
Translation:
HumansAnimals
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Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease. Curr Genomics. 2015 Apr; 16(2):107-16.
Dharmadhikari AV, Szafranski P, Kalinichenko VV, Stankiewicz P. PMID: 26085809; PMCID: PMC4467301.
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PubMed Mentions:
30
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Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. BMC Med Genet. 2014 Dec 04; 15:128.
Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, Becker K, Holinski-Feder E, Cheung SW, Stankiewicz P. PMID: 25472632; PMCID: PMC4411736.
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PubMed Mentions:
4 Fields:
Translation:
HumansAnimalsCells
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Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 2014 Aug; 164A(8):2013-9.
Szafranski P, Dharmadhikari AV, Wambach JA, Towe CT, White FV, Grady RM, Eghtesady P, Cole FS, Deutsch G, Sen P, Stankiewicz P. PMID: 24842713; PMCID: PMC4107046.
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PubMed Mentions:
29 Fields:
Translation:
HumansCells
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Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. PLoS One. 2014; 9(4):e94390.
Sen P, Dharmadhikari AV, Majewski T, Mohammad MA, Kalin TV, Zabielska J, Ren X, Bray M, Brown HM, Welty S, Thevananther S, Langston C, Szafranski P, Justice MJ, Kalinichenko VV, Gambin A, Belmont J, Stankiewicz P. PMID: 24722050; PMCID: PMC3983164.
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PubMed Mentions:
18 Fields:
Translation:
HumansAnimalsCells
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Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat. 2013 Jun; 34(6):801-11.
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. PMID: 23505205; PMCID: PMC3663886.
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PubMed Mentions:
54 Fields:
Translation:
HumansCells
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CD19 expression in acute leukemia is not restricted to the cytogenetically aberrant populations. Leuk Lymphoma. 2013 Jul; 54(7):1517-20.
Francis J, Dharmadhikari AV, Sait SN, Deeb G, Wallace PK, Thompson JE, Wang ES, Wetzler M. PMID: 23193950; PMCID: PMC6668030.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res. 2013 Jan; 23(1):23-33.
Szafranski P, Dharmadhikari AV, Brosens E, Gurha P, Kolodziejska KE, Zhishuo O, Dittwald P, Majewski T, Mohan KN, Chen B, Person RE, Tibboel D, de Klein A, Pinner J, Chopra M, Malcolm G, Peters G, Arbuckle S, Guiang SF, Hustead VA, Jessurun J, Hirsch R, Witte DP, Maystadt I, Sebire N, Fisher R, Langston C, Sen P, Stankiewicz P. PMID: 23034409; PMCID: PMC3530681.
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PubMed Mentions:
78 Fields:
Translation:
HumansCells
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P. PMID: 22543972; PMCID: PMC3392111.
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PubMed Mentions:
12 Fields:
Translation:
HumansCells
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. PMID: 21948486; PMCID: PMC3655525.
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PubMed Mentions:
25 Fields:
Translation:
HumansCells
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Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903.
Liu P, Erez A, Nagamani SC, Dhar SU, Kolodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W. PMID: 21925314; PMCID: PMC3242451.
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PubMed Mentions:
219 Fields:
Translation:
HumansCells
This graph shows the total number of publications by year. To see the data as text,
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This graph shows the total number of publications by year. To return to the graph,
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| Year | Publications |
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| 2011 | 2 |
| 2012 | 2 |
| 2013 | 2 |
| 2014 | 3 |
| 2015 | 2 |
| 2016 | 2 |
| 2017 | 1 |
| 2018 | 2 |
| 2019 | 1 |
| 2020 | 2 |
| 2022 | 2 |
This graph shows the number and percent of publications by field.
Fields are based on how the National Library of Medicine (NLM) classifies the publications' journals and might not represent the specific topics of the publications.
Note that an individual publication can be assigned to more than one field. As a result, the publication counts in this graph might add up to more than the number of publications the person has written.
To see the data as text,
click here.
This graph shows the number and percent of publications by field.
Fields are based on how the National Library of Medicine (NLM) classifies the publications' journals and might not represent the specific topics of the publications.
Note that an individual publication can be assigned to more than one field. As a result, the publication counts in this graph might add up to more than the number of publications the person has written.
To see the data as text,
click here.
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