Klaas J. Wierenga, M.D.

Publications

  1. Srinivasan A, Zhou Y, Scordino T, Prabhu S, Wierenga A, Simon G, Wierenga KJ, Thompson J, Shah R, Sinha AA. IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria. Pediatr Hematol Oncol. 2020 Aug; 37 (5):431-437 Epub 2020 Mar 13
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  2. Riley LG, Rudinger-Thirion J, Frugier M, Wilson M, Luig M, Alahakoon TI, Nixon CY, Kirk EP, Roscioli T, Lunke S, Stark Z, Wierenga KJ, Palle S, Walsh M, Higgs E, Arbuckle S, Thirukeswaran S, Compton AG, Thorburn DR, Christodoulou J. The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy. Hum Mutat. 2020 Aug; 41 (8):1425-1434
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  3. Nabais Sa MJ, El Tekle G, de Brouwer APM, Sawyer SL, Del Gaudio D, Parker MJ, Kanani F, van den Boogaard MH, van Gassen K, Van Allen MI, Wierenga K, Purcarin G, Elias ER, Begtrup A, Keller-Ramey J, Bernasocchi T, van de Wiel L, Gilissen C, Venselaar H, Pfundt R, Vissers LELM, Theurillat JP, de Vries BBA. De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders. Am J Hum Genet. 2020 Mar 5; 106 (3):405-411 Epub 2020 Feb 27
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  4. Blackburn PR, Sullivan AE, Gerassimou AG, Kleinendorst L, Bersten DC, Cooiman M, Harris KG, Wierenga KJ, Klee EW, van Gerpen JA, Ross OA, van Haelst MM, Whitelaw ML, Caulfield TR, Atwal PS. Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity. J Clin Endocrinol Metab. 2020 Jan 1; 105 (1)
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  5. Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. Am J Hum Genet. 2019 Dec 5; 105 (6):1237-1253 Epub 2019 Nov 27
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  6. Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gerard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bezieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21 (12):2713-2722 Epub 2019 June 03
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  7. Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gerard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bezieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Nov; 21 (11):2663
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  8. Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, Bonnemann CG. Dominant collagen XII mutations cause a distal myopathy. Ann Clin Transl Neurol. 2019 Oct; 6 (10):1980-1988 Epub 2019 Sept 11
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  9. Richter JE Jr, Samreen A, Vadlamudi C, Helmi H, Mohammad AN, Wierenga K, Hines S, Atwal PS, Caulfield TR. Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys(-)Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations. Medicina (Kaunas). 2019 May 15; 55 (5)
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  10. Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM, Finnila CR, Guillen Sacoto MJ, Henderson A, Huffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Ounap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A, Deciphering Developmental Disorders (DDD) Study. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet. 2019 May; 27 (5):747-759 Epub 2019 Jan 21
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  11. Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, Makitie O, Campeau PM. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". Bone. 2019 Apr; 121:163-171 Epub 2018 Dec 30
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  12. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P, DDD study. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Mar 25; 11 (1):16
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  13. Sharkia R, Wierenga KJ, Kessel A, Azem A, Bertini E, Carrozzo R, Torraco A, Goffrini P, Ceccatelli Berti C, McCormick ME, Plecko B, Klein A, Abela L, Hengel H, Schols L, Shalev S, Khayat M, Mahajnah M, Spiegel R. Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. J Inherit Metab Dis. 2019 Mar; 42 (2):264-275 Epub 2019 Jan 28
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  14. Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P, DDD study. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Feb 28; 11 (1):12
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  15. Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R. Encephalocraniocutaneous Lipomatosis. J Pediatr Hematol Oncol. 2018 Oct; 40 (7):553-554
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  16. Shakir A, Wadley AF, Purcarin G, Wierenga KJ. The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2. Clin Case Rep. 2018 Sep; 6 (9):1815-1817 Epub 2018 July 26
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  17. Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM, Care for Rare Canada Consortium. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. Eur J Hum Genet. 2018 Sep; 26 (9):1272-1281 Epub 2018 June 14
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  18. Stove SI, Blenski M, Stray-Pedersen A, Wierenga KJ, Jhangiani SN, Akdemir ZC, Crawford D, McTiernan N, Myklebust LM, Purcarin G, McNall-Knapp R, Wadley A, Belmont JW, Kim JJ, Lupski JR, Arnesen T. A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Eur J Hum Genet. 2018 Sep; 26 (9):1294-1305 Epub 2018 May 10
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  19. Kondo Y, Fu J, Wang H, Hoover C, McDaniel JM, Steet R, Patra D, Song J, Pollard L, Cathey S, Yago T, Wiley G, Macwana S, Guthridge J, McGee S, Li S, Griffin C, Furukawa K, James JA, Ruan C, McEver RP, Wierenga KJ, Gaffney PM, Xia L. Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking. JCI Insight. 2018 Jul 26; 3 (14) Epub 2018 July 26
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  20. Wang CC, Ortiz-Gonzalez XR, Yum SW, Gill SM, White A, Kelter E, Seaver LH, Lee S, Wiley G, Gaffney PM, Wierenga KJ, Rasband MN. betaIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. Am J Hum Genet. 2018 Jun 7; 102 (6):1158-1168 Epub 2018 May 31
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  21. Olson HE, Jean-Marcais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ, Donadieu J, Narayanan V, Ramsey KM, Nava C, Riviere JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C, DDD Study//C4RCD Research Group. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018 May 3; 102 (5):995-1007 Epub 2018 Apr 12
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  22. Shakir A, Ripperger M, Jiang Z, Wierenga KJ. Inferred inheritance of MorbidMap genes without OMIM clinical synopsis. Genet Med. 2018 Apr; 20 (4):470-473 Epub 2017 Aug 24
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  23. 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 Rep. 2018; 39:45-54 Epub 2017 July 20
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  24. Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Ounap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafreniere RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL, Deciphering Developmental Disorders Study. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 2; 101 (5):664-685
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  25. Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nat Genet. 2017 Oct; 49 (10):1529-1538 Epub 2017 Aug 14
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  26. Shah RK, Munson M, Wierenga KJ, Pokala HR, Newburger PE, Crawford D. A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis. Pediatr Blood Cancer. 2017 Sep; 64 (9) Epub 2017 Apr 28
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  27. Luo X, Rosenfeld JA, Yamamoto S, Harel T, Zuo Z, Hall M, Wierenga KJ, Pastore MT, Bartholomew D, Delgado MR, Rotenberg J, Lewis RA, Emrick L, Bacino CA, Eldomery MK, Coban Akdemir Z, Xia F, Yang Y, Lalani SR, Lotze T, Lupski JR, Lee B, Bellen HJ, Wangler MF, Members of the UDN. Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. PLoS Genet. 2017 Jul; 13 (7):e1006905 Epub 2017 July 24
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  28. Alfadhel M, Nashabat M, Qahtani HA, Alfares A, Mutairi FA, Shaalan HA, Douglas GV, Wierenga K, Juusola J, Alrifai MT, Arold ST, Alkuraya F, Ali QA. Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. Hum Genet. 2016 Nov; 135 (11):1263-1268 Epub 2016 Aug 01
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  29. Petrovski S, Kury S, Myers CT, Anyane-Yeboa K, Cogne B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bezieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB, University of Washington Center for Mendelian Genomics. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet. 2016 May 5; 98 (5):1001-1010 Epub 2016 Apr 21
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  30. Qin L, Wang J, Tian X, Yu H, Truong C, Mitchell JJ, Wierenga KJ, Craigen WJ, Zhang VW, Wong LC. Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. J Mol Diagn. 2016 May; 18 (3):446-453 Epub 2016 Mar 02
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  31. Franco-Palacios MA, Martin, MA, Wierenga KJ, Lake JR, Davis AC, Wartchow EP, Mierau GW, Fung K-M . Adult polyglucosan body disease with reduced glycogen branching enzyme activity and heterozygous GBE1mutation mimicking a low-grade glioma Int J Clin Exp Pathol. 2016; 9(3):4092-4100. Epub 2016 Mar 01.
  32. White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 6; 8 (1):3 Epub 2016 Jan 06
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  33. Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ. Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. Mol Genet Metab. 2015 Dec; 116 (4):252-9 Epub 2015 Oct 17
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  34. Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T. Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility. Eur J Hum Genet. 2015 May; 23 (5):663-71 Epub 2014 Aug 13
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  35. Luteijn AJ, Wierenga KJ. Sikkelcelziekte Bijblijven. 2015; 31(7):510-23.
  36. Longo N, Arnold GL, Pridjian G, Enns GM, Ficicioglu C, Parker S, Cohen-Pfeffer J L, Wierenga KJ. Molecular Genetics and Metabolism Long term safety and efficacy of sapropterin: the PKUDOS registry experience. 2015; 114(4):557-63.
  37. Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6; 95 (5):579-83 Epub 2014 Oct 16
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  38. Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis. Proc Natl Acad Sci U S A. 2014 Mar 18; 111 (11):4197-202 Epub 2014 Mar 03
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  39. Wierenga KJ, Jiang Z, Yang AC, Mulvihill JJ, Tsinoremas NF. A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents. Genet Med. 2013 May; 15 (5):354-60 Epub 2012 Oct 25
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  40. Pascual FT, Wierenga KJ, Ng YT. Contiguous deletion of KCNQ2 and CHRNA4 may cause a different disorder from benign familial neonatal seizures. Epilepsy Behav Case Rep. 2013; 1:35-8 Epub 2013 Mar 01
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  41. Wilson PL, Goodman JR, Notley L, Li S, Lee Y, Yu Z, Wierenga KJ, Wagner AF. Prenatal Diagnosis of Osteopathia Striata with Cranial Sclerosis in a Male Fetus with a ~330kb Deletion of Xq11.1 involving the WTX Gene American Journal of Medical and Biological Research. 2013; 1(1):33-6.
  42. Winters KA, Jiang Z, Xu W, Li S, Ammous Z, Jayakar P, Wierenga KJ. Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome. Am J Med Genet A. 2012 Nov; 158A (11):2935-40 Epub 2012 Sept 14
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  43. Tang M, Odejinmi SI, Vankayalapati H, Wierenga KJ, Lai K. Innovative therapy for Classic Galactosemia - tale of two HTS. Mol Genet Metab. 2012 Jan; 105 (1):44-55 Epub 2011 Oct 01
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  44. Tang M, Wierenga K, Elsas LJ, Lai K. Molecular and biochemical characterization of human galactokinase and its small molecule inhibitors. Chem Biol Interact. 2010 Dec 5; 188 (3):376-85 Epub 2010 Aug 07
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  45. Kurt B, Jaeken J, Van Hove J, Lagae L, Lofgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S. A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Arch Neurol. 2010 Feb; 67 (2):239-44
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  46. Bergmann AK, Sahai I, Falcone JF, Fleming J, Bagg A, Borgna-Pignati C, Casey R, Fabris L, Hexner E, Mathews L, Ribeiro ML, Wierenga KJ, Neufeld EJ. Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update. J Pediatr. 2009 Dec; 155 (6):888-892.e1 Epub 2009 July 29
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  47. Lai K, Elsas LJ, Wierenga KJ. Galactose toxicity in animals. IUBMB Life. 2009 Nov; 61 (11):1063-74
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  48. Wierenga KJ, Lai K, Buchwald P, Tang M. High-throughput screening for human galactokinase inhibitors. J Biomol Screen. 2008 Jun; 13 (5):415-23 Epub 2008 May 19
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  49. Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. 2008 Feb; 29 (2):330-1
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  50. Lai K, Tang M, Yin X, Klapper H, Wierenga K, Elsas L. ARHI: A new target of galactose toxicity in Classic Galactosemia. Biosci Hypotheses. 2008; 1 (5):263-271
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  51. Duncan ND, Brown B, Dundas SE, Wierenga K, Kulkarni S, Pinnock-Ramsaran C, Abel C. "Minimal intervention management" for gastroschisis: a preliminary report. West Indian Med J. 2005 Mar; 54 (2):152-4
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  52. Hambleton IR, Wierenga KJ. Identifying homozygous sickle cell disease when neonatal screening is not available: a clinic-based observational study. J Med Screen. 2004; 11 (4):175-9
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  53. Wierenga KJ, Serjeant BE, Serjeant GR. Cerebrovascular complications and parvovirus infection in homozygous sickle cell disease. J Pediatr. 2001 Sep; 139 (3):438-42
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  54. Wierenga KJ, Hambleton IR, Lewis NA. Survival estimates for patients with homozygous sickle-cell disease in Jamaica: a clinic-based population study. Lancet. 2001 Mar 3; 357 (9257):680-3
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  55. Wierenga KJ, Hambleton IR, Wilson RM, Alexander H, Serjeant BE, Serjeant GR. Significance of fever in Jamaican patients with homozygous sickle cell disease. Arch Dis Child. 2001 Feb; 84 (2):156-9
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  56. Singhal A, Davies P, Wierenga KJ, Thomas P, Serjeant G. Is there an energy deficiency in homozygous sickle cell disease? Am J Clin Nutr. 1997 Aug; 66 (2):386-90
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  57. Wierenga KJ. [Neonatal screening for sickle-cell disease]. Ned Tijdschr Geneeskd. 1997 Jan 25; 141 (4):184-7
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  58. Wierenga KJ, Moosdeen F, Thomas S, Serjeant GR. Penicillin-resistant Streptococcus pneumoniae in a Jamaican patient with homozygous sickle-cell disease. West Indian Med J. 1996 Sep; 45 (3):95-6
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  59. Wierenga KJ, Pattison JR, Brink N, Griffiths M, Miller M, Shah DJ, Williams W, Serjeant BE, Serjeant GR. Glomerulonephritis after human parvovirus infection in homozygous sickle-cell disease. Lancet. 1995 Aug 19; 346 (8973):475-6
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  60. Singhal A, Thomas P, Cook R, Wierenga K, Serjeant G. Delayed adolescent growth in homozygous sickle cell disease. Arch Dis Child. 1994 Nov; 71 (5):404-8
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  61. Ortiz-Gonzalez X, Wierenga K. SPTBN4 Disorder Adam MP//Ardinger HH//Pagon RA//Wallace SE//Bean LJH//Stephens K//Amemiya A editor.GeneReviews((R)) Seattle (WA) University of Washington, Seattle 1993
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