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Year Number of Results
2003 1
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2013 2
2014 5
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2019 6
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38 results

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Page 1
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Rahimi MJ, Urban N, Wegler M, Sticht H, Schaefer M, Popp B, Gaunitz F, Morleo M, Nigro V, Maitz S, Mancini GMS, Ruivenkamp C, Suk EK, Bartolomaeus T, Merkenschlager A, Koboldt D, Bartholomew D, Stegmann APA, Sinnema M, Duynisveld I, Salvarinova R, Race S, de Vries BBA, Trimouille A, Naudion S, Marom D, Hamiel U, Henig N, Demurger F, Rahner N, Bartels E, Hamm JA, Putnam AM, Person R, Abou Jamra R, Oppermann H. Rahimi MJ, et al. Among authors: bartholomew d. Am J Hum Genet. 2022 May 5;109(5):944-952. doi: 10.1016/j.ajhg.2022.03.009. Epub 2022 Mar 30. Am J Hum Genet. 2022. PMID: 35358416 Free PMC article.
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Hunter JM, Massingham LJ, Manickam K, Bartholomew D, Williamson RK, Schwab JL, Marhabaie M, Siemon A, de Los Reyes E, Reshmi SC, Cottrell CE, Wilson RK, Koboldt DC. Hunter JM, et al. Among authors: bartholomew d. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006180. doi: 10.1101/mcs.a006180. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35091509 Free PMC article.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lißewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Álvarez S, Martínez-García M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M. Motta M, et al. Among authors: bartholomew dw. Am J Hum Genet. 2020 Sep 3;107(3):499-513. doi: 10.1016/j.ajhg.2020.06.018. Epub 2020 Jul 27. Am J Hum Genet. 2020. PMID: 32721402 Free PMC article.
Craniofacial-deafness-hand syndrome revisited.
Sommer A, Bartholomew DW. Sommer A, et al. Among authors: bartholomew dw. Am J Med Genet A. 2003 Nov 15;123A(1):91-4. doi: 10.1002/ajmg.a.20501. Am J Med Genet A. 2003. PMID: 14556253
Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant.
Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, Bartholomew D, Herman GE, Mori M. Arredondo K, et al. Among authors: bartholomew d. J Child Neurol. 2022 May;37(6):517-523. doi: 10.1177/08830738221089741. Epub 2022 Apr 6. J Child Neurol. 2022. PMID: 35384780
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network; Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA… See abstract for full author list ➔ Johnson BV, et al. Among authors: bartholomew d. Biol Psychiatry. 2020 Jan 15;87(2):100-112. doi: 10.1016/j.biopsych.2019.05.028. Epub 2019 Jun 29. Biol Psychiatry. 2020. PMID: 31443933 Free PMC article.
Recurrent pancreatitis in ornithine transcarbamylase deficiency.
Prada CE, Kaul A, Hopkin RJ, Page KI, Nathan JD, Bartholomew DW, Cohen MB, Heubi JE, Leslie ND, Burrow TA. Prada CE, et al. Among authors: bartholomew dw. Mol Genet Metab. 2012 Aug;106(4):482-4. doi: 10.1016/j.ymgme.2012.06.005. Epub 2012 Jun 15. Mol Genet Metab. 2012. PMID: 22728053
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Li D, Wang Q, Gong NN, Kurolap A, Feldman HB, Boy N, Brugger M, Grand K, McWalter K, Guillen Sacoto MJ, Wakeling E, Hurst J, March ME, Bhoj EJ, Nowaczyk MJM, Gonzaga-Jauregui C, Mathew M, Dava-Wala A, Siemon A, Bartholomew D, Huang Y, Lee H, Martinez-Agosto JA, Schwaibold EMC, Brunet T, Choukair D, Pais LS, White SM, Christodoulou J, Brown D, Lindstrom K, Grebe T, Tiosano D, Kayser MS, Tan TY, Deardorff MA, Song Y, Hakonarson H. Li D, et al. Among authors: bartholomew d. Sci Adv. 2021 May 12;7(20):eabf2066. doi: 10.1126/sciadv.abf2066. Print 2021 May. Sci Adv. 2021. PMID: 33980485 Free PMC article.
Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS. Montaño AM, et al. Among authors: bartholomew d. J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23. J Med Genet. 2016. PMID: 26908836 Free PMC article.
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome.
Ramadesikan S, Showpnil IA, Marhabaie M, Daley A, Varga EA, Gurusamy U, Pastore MT, Sites ER, Manickam M, Bartholomew DW, Hunter JM, White P, Wilson RK, Stottmann RW, Koboldt DC. Ramadesikan S, et al. Among authors: bartholomew dw. HGG Adv. 2024 Nov 4:100379. doi: 10.1016/j.xhgg.2024.100379. Online ahead of print. HGG Adv. 2024. PMID: 39497417 Free article.
38 results