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Last Name
Institution

Shivarajan M Amudhavalli, MBBS, FAAP, FACMG

TitlePhysician
InstitutionChildren's Mercy Kansas City
DepartmentClinical Genetics
Address2401 Gillham Rd
Kansas City MO 64108
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    Other Positions
    TitleAssociate Professor
    InstitutionUniversity of Missouri-Kansas City
    DepartmentPediatrics


    Collapse Biography 
    Collapse education and training
    Madras Medical College, Chennai, IndiaMBBS1999
    Mount Sinai Medical Center, Baltimore, MDResidency2010Pediatrics
    Johns Hopkins University School of Medicine, Baltimore, MDResidency2012Genetics

    Collapse Research 
    Collapse research activities and funding
    ALX-HPP-501     (Eric Rush)
    Alexion
    An Observational, Longitudinal, Prospective, Long-Term Registry of Patients with Hypophosphatasia
    ALX-HPP-501s     (Eric Rush)
    Alexion
    A Prospective Observational Sub-Study of the Global Hypophosphatasia Registry to Describe the Potential Risk of Immune-Mediated Loss of Pharmacological Effect of Asfotase Alfa in Participants with Hypophosphatasia
    ALXN1850-HPP-303     (Eric Rush)
    Alexion
    A Phase 3, Randomized, Open-label, Parallel-arm, Active-controlled, Multicenter Study to Evaluate Safety and Efficacy of ALXN1850 Versus Asfotase Alfa Administered Subcutaneously in Pediatric Participants (2 to < 12 years of age) with Hypophosphatasia (HPP) Previously Treated with Asfotase Alfa
    ALXN1850-HPP-305     (Eric Rush)
    Alexion
    A Phase 3, Randomized, Double-blinded, Placebo-controlled, Multicenter Study to Evaluate Efficacy and Safety of ALXN1850 Versus Placebo Administered Subcutaneously in Pediatric (2 to < 12 years of age) Participants with Hypophosphatasia Who Have Not Received Previous Treatment with Asfotase Alfa

    Collapse Bibliography 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    List All   |   Timeline
    1. Amudhavalli SM, Paolillo V, Lawson C, Patterson M, Kussmann J, Nopper AJ, Lypka M, Saunders C. Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia. Am J Med Genet A. 2023 05; 191(5):1425-1429. PMID: 36814386.
      View in: PubMed
    2. Zion TN, Berrios CD, Cohen ASA, Bartik L, Cross LA, Engleman KL, Fleming EA, Gadea RN, Hughes SS, Jenkins JL, Kussmann J, Lawson C, Schwager C, Strenk ME, Welsh H, Rush ET, Amudhavalli SM, Sullivan BR, Zhou D, Gannon JL, Heese BA, Moore R, Boillat E, Biswell RL, Louiselle DA, Puckett LMB, Beyer S, Neal SH, Sierant V, McBeth M, Belden B, Walter AM, Gibson M, Cheung WA, Johnston JJ, Thiffault I, Farrow EG, Grundberg E, Pastinen T. Insurance denials and diagnostic rates in a pediatric genomic research cohort. Genet Med. 2023 05; 25(5):100020. PMID: 36718845.
      View in: PubMed
    3. Cadieux-Dion M, Farrow E, Thiffault I, Cohen ASA, Welsh H, Bartik L, Schwager C, Engleman K, Zhou D, Zhang L, Repnikova E, Amudhavalli SM, Saunders CJ. Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series. Clin Genet. 2022 08; 102(2):136-141. PMID: 35533077.
      View in: PubMed
    4. Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes. Genet Med. 2022 06; 24(6):1336-1348. PMID: 35305867.
      View in: PubMed
    5. Hanson J, Brezavar D, Hughes S, Amudhavalli S, Fleming E, Zhou D, Alaimo JT, Bonnen PE. TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay. Clin Genet. 2022 02; 101(2):214-220. PMID: 34741306.
      View in: PubMed
    6. von der Lippe C, Tveten K, Prescott TE, Holla ?L, Busk ?L, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, L?vy J, Drunat S, Derive N, Haug MG, Thorstensen WM. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Am J Med Genet A. 2022 01; 188(1):272-282. PMID: 34515416.
      View in: PubMed
    7. Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y. Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly. Clin Genet. 2021 10; 100(4):386-395. PMID: 34164801.
      View in: PubMed
    8. Burns W, Bird LM, Heron D, Keren B, Ramachandra D, Thiffault I, Del Viso F, Amudhavalli S, Engleman K, Parenti I, Kaiser FJ, Wierzba J, Riedhammer KM, Liptay S, Zadeh N, Porrmann J, Fischer A, G??wein S, McLaughlin HM, Telegrafi A, Langley KG, Steet R, Louie RJ, Lyons MJ. Syndromic neurodevelopmental disorder associated with de novo variants in DDX23. Am J Med Genet A. 2021 10; 185(10):2863-2872. PMID: 34050707.
      View in: PubMed
    9. den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistiene L, Coon H, D?lot EC, D?murger F, Denomm?-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kucinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preik?aitiene E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. Am J Hum Genet. 2021 02 04; 108(2):346-356. PMID: 33513338.
      View in: PubMed
    10. Cross LA, McWalter K, Keller-Ramey J, Henderson LB, Amudhavalli SM. A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder. Clin Dysmorphol. 2020 Jul; 29(3):161-164. PMID: 31929335.
      View in: PubMed
    11. Ng A, Galosi S, Salz L, Wong T, Schwager C, Amudhavalli S, Gelineau-Morel R, Chowdhury S, Friedman J. Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation. BMC Neurol. 2020 Jun 16; 20(1):246. PMID: 32546208.
      View in: PubMed
    12. Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M. Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD. J Med Genet. 2020 Oct; 57(10):717-724. PMID: 32152250.
      View in: PubMed
    13. Porath B, Farooki S, Gener M, Amudhavalli SM, Grote L, Cooley LD, Ginn K, Farooqi MS. Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome. Clin Genet. 2020 04; 97(4):670-671. PMID: 31825089.
      View in: PubMed
    14. Patak J, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross L, Amudhavalli S, Pacio-Miguez M, Palomares-Bralo M, Garcia-Minaur S, Santos-Simarro F, Powis Z, Alcaraz W, Tang S, Jurgens J, Barry B, England E, Engle E, Hess J, Lebel RR. MAGEL2-related disorders: A study and case series. Clin Genet. 2019 12; 96(6):493-505. PMID: 31397880.
      View in: PubMed
    15. Caylor RC, Grote L, Thiffault I, Farrow EG, Willig L, Soden S, Amudhavalli SM, Nopper AJ, Horii KA, Fleming E, Jenkins J, Welsh H, Ilyas M, Engleman K, Abdelmoity A, Saunders CJ. Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings. Neurogenetics. 2018 12; 19(4):261-262. PMID: 29992365.
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    16. Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A. Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. Eur J Med Genet. 2019 Dec; 62(12):103588. PMID: 30472488.
      View in: PubMed
    17. Repnikova E, Roberts J, Kats A, Habeebu S, Schwager C, Joyce J, Manalang M, Amudhavalli SM. Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia. Clin Genet. 2018 12; 94(6):564-568. PMID: 30084132.
      View in: PubMed
    18. Amudhavalli SM, Hanson R, Angle B, Bontempo K, Gripp KW. Further delineation of Aym?-Gripp syndrome and use of automated facial analysis tool. Am J Med Genet A. 2018 07; 176(7):1648-1656. PMID: 30160832.
      View in: PubMed
    19. Caylor RC, Grote L, Thiffault I, Farrow EG, Willig L, Soden S, Amudhavalli SM, Nopper AJ, Horii KA, Fleming E, Jenkins J, Welsh H, Ilyas M, Engleman K, Abdelmoity A, Saunders CJ. Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings. Neurogenetics. 2018 08; 19(3):205-213. PMID: 29926239.
      View in: PubMed
    20. Grote LE, Repnikova EA, Amudhavalli SM. Expanding the phenotype of feingold syndrome-2. Am J Med Genet A. 2015 Dec; 167A(12):3219-25. PMID: 26360630.
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    21. Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA. Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy? Clin Genet. 2014 Feb; 85(2):138-46. PMID: 23379592.
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    22. Shivarajan MA, Suresh S, Jagadeesh S, Lata S, Bhat L. Second trimester diagnosis of Neu Laxova syndrome. Prenat Diagn. 2003 Jan; 23(1):21-4. PMID: 12533807.
      View in: PubMed
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