Harvard Catalyst Profiles

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Monica Hsiung Wojcik, M.D.

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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.
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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. (Note that publications are often cited in additional ways that are not shown here.) 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. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Hu RS, Heffernan J, Sims J, Wojcik MH. Trisomy 13: Survival beyond the NICU. Neoreviews. 2023 Jan 01; 24(1):51-56. PMID: 36587011.
    Citations:    Fields:    Translation:Humans
  2. Callahan KP, Radack J, Wojcik MH, Jenkins SM, Nye RT, Skraban C, Wild KT, Feudtner C. Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021. Genet Med. 2022 Dec 13; 25(3):100357. PMID: 36521640.
    Citations:    Fields:    
  3. Wojcik MH, Fishler KP, Chaudhari BP. Re: "Next generation sequencing in neonatology: what does it mean for the next generation?" Hum Genet. 2022 Nov 10. PMID: 36355221.
    Citations:    Fields:    
  4. Wojcik MH. ECI Biocommentary: Monica Hsiung Wojcik. Pediatr Res. 2022 Oct 19. PMID: 36261504.
    Citations:    Fields:    
  5. D'Gama AM, Del Rosario MC, Bresnahan MA, Yu TW, Wojcik MH, Agrawal PB. Integrating rapid exome sequencing into NICU clinical care after a pilot research study. NPJ Genom Med. 2022 Sep 05; 7(1):51. PMID: 36064943; PMCID: PMC9441819.
    Citations:    
  6. Wojcik MH, Bresnahan M, Del Rosario MC, Ojeda MM, Kritzer A, Fraiman YS. Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. Pediatr Res. 2022 Aug 13. PMID: 35963884.
    Citations:    Fields:    
  7. Zhang T, Briere JM, Leeman KT, Wojcik MH, Agrawal PB. Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. J Genet Couns. 2022 12; 31(6):1434-1437. PMID: 35916015; PMCID: PMC9722620.
    Citations:    Fields:    Translation:Humans
  8. Deming RS, Mazzola E, MacDonald J, Manning S, Beight L, Currie ER, Wojcik MH, Wolfe J. Care Intensity and Palliative Care in Chronically Critically Ill Infants. J Pain Symptom Manage. 2022 11; 64(5):486-494. PMID: 35840043.
    Citations:    Fields:    
  9. Wojcik MH. Commentary on Clinicians at Crossroads for a Dangerous Interference in Neonatal Bilirubin Determination at the Point-of-Care. Clin Chem. 2022 07 03; 68(7):892. PMID: 35780509.
    Citations:    Fields:    Translation:Humans
  10. Zhao B, Madden JA, Lin J, Berry GT, Wojcik MH, Zhao X, Brand H, Talkowski M, Lee EA, Agrawal PB. A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Eur J Hum Genet. 2022 09; 30(9):1083-1087. PMID: 35768521; PMCID: PMC9437004.
    Citations:    Fields:    
  11. Wojcik MH, D'Gama AM, Agrawal PB. A model to implement genomic medicine in the neonatal intensive care unit. J Perinatol. 2022 Jun 24. PMID: 35750755; PMCID: PMC9789202.
    Citations:    Fields:    
  12. Morton SU, Christodoulou J, Costain G, Muntoni F, Wakeling E, Wojcik MH, French CE, Szuto A, Dowling JJ, Cohn RD, Raymond FL, Darras BT, Williams DA, Lunke S, Stark Z, Rowitch DH, Agrawal PB. Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. JAMA Neurol. 2022 04 01; 79(4):405-413. PMID: 35254387.
    Citations:    Fields:    Translation:Humans
  13. Wojcik MH, Fraiman YS. Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants. JAMA Pediatr. 2022 04 01; 176(4):420-421. PMID: 35129617; PMCID: PMC9470004.
    Citations:    Fields:    Translation:Humans
  14. Wojcik MH, Del Rosario MC, Agrawal PB. Perspectives of United States neonatologists on genetic testing practices. Genet Med. 2022 06; 24(6):1372-1377. PMID: 35304021; PMCID: PMC9272826.
    Citations:    Fields:    Translation:Humans
  15. Gofin Y, Wang T, Gillentine MA, Scott TM, Berry AM, Azamian MS, Genetti C, Agrawal PB, Picker J, Wojcik MH, Delgado MR, Lynch SA, Scherer SW, Howe JL, Bacino CA, DiTroia S, VanNoy GE, O'Donnell-Luria A, Lalani SR, Graf WD, Rosenfeld JA, Eichler EE, Earl RK, Scott DA. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470. PMID: 35094443; PMCID: PMC8960338.
    Citations:    Fields:    Translation:HumansAnimals
  16. Omorodion J, Dowsett L, Clark RD, Fraser J, Abu-El-Haija A, Strong A, Wojcik MH, Bryant AS, Gold NB. Delayed diagnosis and racial bias in children with genetic conditions. Am J Med Genet A. 2022 04; 188(4):1118-1123. PMID: 35037400.
    Citations:    Fields:    Translation:Humans
  17. Bresnahan M, Wojcik MH. Follow-up for a Preterm Infant with Beckwith-Wiedemann Syndrome. Neoreviews. 2022 01 01; 23(1):e60-e66. PMID: 34970667.
    Citations:    Fields:    Translation:Humans
  18. Wojcik MH, Yuen JC, Hansen A, Leeman KT. Mortality in the neonatal intensive care unit: improving the accuracy of death reporting. J Perinatol. 2022 05; 42(5):671-676. PMID: 34584196; PMCID: PMC9126052.
    Citations:    Fields:    Translation:Humans
  19. Stadelmaier RT, Kenna MA, Barrett D, Mullen TE, Bodamer O, Agrawal PB, Robson CD, Wojcik MH. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Am J Med Genet A. 2021 12; 185(12):3770-3783. PMID: 34369642; PMCID: PMC8595668.
    Citations: 1     Fields:    Translation:Humans
  20. Wojcik MH, Stadelmaier R, Heinke D, Holm IA, Tan WH, Agrawal PB. The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Am J Public Health. 2021 07; 111(S2):S156-S162. PMID: 34314210; PMCID: PMC8495634.
    Citations:    Fields:    Translation:Humans
  21. Acharya K, Leuthner SR, Zaniletti I, Niehaus JZ, Bishop CE, Coghill CH, Datta A, Dereddy N, DiGeronimo R, Jackson L, Ling CY, Matoba N, Natarajan G, Nayak SP, Schlegel AB, Seale J, Shah A, Weiner J, Williams HO, Wojcik MH, Fry JT, Sullivan K. Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children's hospitals neonatal intensive care units (NICUs). J Perinatol. 2021 07; 41(7):1745-1754. PMID: 34112961.
    Citations:    Fields:    Translation:Humans
  22. Wojcik MH. Commentary on a Neonate with Hypocalcemia and Cardiac Anomaly. Clin Chem. 2021 06 01; 67(6):827-828. PMID: 34059898.
    Citations:    Fields:    Translation:Humans
  23. Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. Genet Med. 2021 08; 23(8):1474-1483. PMID: 33941880; PMCID: PMC8354849.
    Citations: 2     Fields:    Translation:HumansCells
  24. 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. Genet Med. 2021 07; 23(7):1372-1375. PMID: 33772220; PMCID: PMC8263473.
    Citations: 11     Fields:    Translation:HumansPHPublic Health
  25. Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mrácek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 02 18; 12(1):1135. PMID: 33602924; PMCID: PMC7893070.
    Citations: 2     Fields:    Translation:HumansCells
  26. Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Lüttgen S, Denecke J, Strom TM, Monaghan KG, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Günthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Õunap K, Ilves P, Innes AM, Kernohan KD, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, Martin MG, Martinez-Agosto JA, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vøllo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 12; 6(49). PMID: 33268356; PMCID: PMC7821880.
    Citations: 10     Fields:    Translation:HumansAnimals
  27. Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B, Agrawal PB. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 12 03; 107(6):1170-1177. PMID: 33232677.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  28. Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fecíková A, Havránková P, Roth J, Príhodová I, Adamovicová M, Ulmanová O, Bechyne K, Danhofer P, Veselý B, Han V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Ružicka E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020 11; 19(11):908-918. PMID: 33098801.
    Citations: 24     Fields:    Translation:Humans
  29. D'Gama AM, England E, Madden JA, Shi J, Chao KR, Wojcik MH, Torres AR, Tan WH, Berry GT, Prabhu SP, Agrawal PB. Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis. Am J Med Genet A. 2021 01; 185(1):203-207. PMID: 33037779.
    Citations: 1     Fields:    Translation:HumansCells
  30. Wojcik MH, Agrawal PB. Deciphering congenital anomalies for the next generation. Cold Spring Harb Mol Case Stud. 2020 10; 6(5). PMID: 32826208.
    Citations:    Fields:    Translation:Humans
  31. Fraiman YS, Wojcik MH. The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect? Pediatr Res. 2021 01; 89(2):295-300. PMID: 32932427.
    Citations: 6     Fields:    Translation:Humans
  32. Wojcik MH. Genomic Insights into Stillbirth. N Engl J Med. 2020 09 17; 383(12):1182-1183. PMID: 32786182.
    Citations: 1     Fields:    Translation:Humans
  33. Woldegebriel R, Kvist J, Andersson N, Õunap K, Reinson K, Wojcik MH, Bijlsma EK, Hoffer MJV, Ryan MM, Stark Z, Walsh M, Cuppen I, van den Boogaard MH, Bharucha-Goebel D, Donkervoort S, Winchester S, Zori R, Bönnemann CG, Maroofian R, O'Connor E, Houlden H, Zhao F, Carpén O, White M, Sreedharan J, Stewart M, Ylikallio E, Tyynismaa H. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. Hum Mol Genet. 2020 06 03; 29(9):1426-1439. PMID: 32202298.
    Citations: 1     Fields:    Translation:HumansCells
  34. VanNoy GE, Wojcik MH, Genetti CA, Mullen TE, Agrawal PB, Stein DR. Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease. Kidney Int Rep. 2020 Aug; 5(8):1316-1319. PMID: 32775833; PMCID: PMC7403496.
    Citations: 1     
  35. Wojcik MH, Stewart JE, Waisbren SE, Litt JS. Developmental Support for Infants With Genetic Disorders. Pediatrics. 2020 05; 145(5). PMID: 32327449; PMCID: PMC7193975.
    Citations: 2     Fields:    Translation:Humans
  36. Beam K, Wojcik MH, Agrawal PB, Smithers C, Estroff J. Prenatal Diagnosis of a Ventral Abdominal Wall Defect. Neoreviews. 2020 04; 21(4):e286-e292. PMID: 32238493.
    Citations:    Fields:    Translation:Humans
  37. Wojcik MH, Reimers R, Poorvu T, Agrawal PB. Genetic diagnosis in the fetus. J Perinatol. 2020 07; 40(7):997-1006. PMID: 32094481; PMCID: PMC7319864.
    Citations: 1     Fields:    Translation:Humans
  38. Lilleväli H, Pajusalu S, Wojcik MH, Goodrich J, Collins RL, Murumets Ü, Tammur P, Blau N, Lilleväli K, Õunap K. Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Mol Genet Genomic Med. 2020 04; 8(4):e1154. PMID: 32022462; PMCID: PMC7196484.
    Citations: 4     Fields:    Translation:HumansCells
  39. 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, Yu TW. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 04; 22(4):736-744. PMID: 31780822; PMCID: PMC7127968.
    Citations: 26     Fields:    Translation:Humans
  40. Pravata VM, Gundogdu M, Bartual SG, Ferenbach AT, Stavridis M, Õunap K, Pajusalu S, Žordania R, Wojcik MH, van Aalten DMF. A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. FEBS Lett. 2020 02; 594(4):717-727. PMID: 31627256; PMCID: PMC7042088.
    Citations: 13     Fields:    Translation:HumansAnimalsCells
  41. Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet. 2019 09 05; 105(3):493-508. PMID: 31447100; PMCID: PMC6731364.
    Citations: 20     Fields:    Translation:HumansCells
  42. Wojcik MH, Schwartz TS, Thiele KE, Paterson H, Stadelmaier R, Mullen TE, VanNoy GE, Genetti CA, Madden JA, Gubbels CS, Yu TW, Tan WH, Agrawal PB. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 12; 39(12):1611-1619. PMID: 31395954.
    Citations: 13     Fields:    Translation:Humans
  43. Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. Am J Hum Genet. 2019 08 01; 105(2):403-412. PMID: 31303265; PMCID: PMC6698880.
    Citations: 10     Fields:    Translation:HumansCells
  44. Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, Sticht H, Gregor A, Van Esch H, Zweier C. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med. 2019 12; 21(12):2723-2733. PMID: 31239556; PMCID: PMC6892744.
    Citations: 17     Fields:    Translation:HumansAnimalsCells
  45. Wojcik MH, Thiele K, Grant CF, Chao K, Goodrich J, O'Donnell-Luria A, Lacro RV, Tan WH, Agrawal PB. Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. J Pediatr. 2019 10; 213:235-240. PMID: 31235381; PMCID: PMC6765408.
    Citations: 2     Fields:    Translation:Humans
  46. Yakoreva M, Kahre T, Žordania R, Reinson K, Teek R, Tillmann V, Peet A, Õiglane-Shlik E, Pajusalu S, Murumets Ü, Vals MA, Mee P, Wojcik MH, Õunap K. A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016. Eur J Hum Genet. 2019 11; 27(11):1649-1658. PMID: 31186545.
    Citations: 9     Fields:    Translation:HumansCells
  47. Wojcik MH, Linnea K, Stoler JM, Rappaport L. Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. Am J Med Genet A. 2019 08; 179(8):1565-1569. PMID: 31074943; PMCID: PMC6663627.
    Citations: 5     Fields:    Translation:Humans
  48. Õunap K, Muru K, Õiglane-Shlik E, Ilves P, Pajusalu S, Kuus I, Wojcik MH, Reimand T. PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet. 2020 Feb; 63(2):103660. PMID: 31048081.
    Citations:    Fields:    Translation:Humans
  49. Edward HL, D'Gama AM, Wojcik MH, Brownstein CA, Kenna MA, Grant PE, Majzoub JA, Agrawal PB. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. Am J Med Genet A. 2019 07; 179(7):1299-1303. PMID: 31012281.
    Citations: 1     Fields:    Translation:HumansCells
  50. 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. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. PMID: 30979967.
    Citations: 18     Fields:    Translation:Humans
  51. 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, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Õunap 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. Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. Eur J Hum Genet. 2019 05; 27(5):747-759. PMID: 30664714.
    Citations: 11     Fields:    Translation:HumansCells
  52. Arachchi H, Wojcik MH, Weisburd B, Jacobsen JOB, Valkanas E, Baxter S, Byrne AB, O'Donnell-Luria AH, Haendel M, Smedley D, MacArthur DG, Philippakis AA, Rehm HL. matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat. 2018 12; 39(12):1827-1834. PMID: 30240502; PMCID: PMC6250066.
    Citations: 9     Fields:    Translation:Humans
  53. Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A. 2018 12; 176(12):2623-2629. PMID: 30151950; PMCID: PMC6481602.
    Citations: 5     Fields:    Translation:HumansAnimalsCells
  54. Wojcik MH, Brodsky D, Stewart JE, Picker J. Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology. J Perinatol. 2018 09; 38(9):1125-1134. PMID: 30076402; PMCID: PMC6419510.
    Citations: 1     Fields:    Translation:Humans
  55. 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. Eur J Med Genet. 2019 Feb; 62(2):137-143. PMID: 29960046; PMCID: PMC6310103.
    Citations: 3     Fields:    Translation:Humans
  56. Wojcik MH, Schwartz TS, Yamin I, Edward HL, Genetti CA, Towne MC, Agrawal PB. Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genet Med. 2018 11; 20(11):1396-1404. PMID: 29790870; PMCID: PMC6185816.
    Citations: 14     Fields:    Translation:Humans
  57. Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carré W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogné B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bézieau S, Koenig M, Davis EE, Pasquier L, Küry S. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018 05 03; 102(5):744-759. PMID: 29656859; PMCID: PMC5986661.
    Citations: 22     Fields:    Translation:HumansAnimalsCells
  58. 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, Õunap 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, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 02; 101(5):664-685. PMID: 29100083.
    Citations: 110     Fields:    Translation:Humans
  59. Wojcik MH, Carmichael N, Bieber FR, Wiener DC, Madan R, Pober BR, Raby BA. Cover Image, Volume 173A, Number 8, August 2017. Am J Med Genet A. 2017 Aug; 173(8):i. PMID: 28703452.
    Citations:    Fields:    
  60. 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. PMID: 28726122; PMCID: PMC5953889.
    Citations: 7     
  61. Wojcik MH, Carmichael N, Bieber FR, Wiener DC, Madan R, Pober BR, Raby BA. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. Am J Med Genet A. 2017 Aug; 173(8):2235-2239. PMID: 28574231; PMCID: PMC5509496.
    Citations: 3     Fields:    Translation:HumansCells
  62. Ebrahimi-Fakhari D, Freiman E, Wojcik MH, Krone K, Casey A, Winn AS, Roberts AE, Harper BD. Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. J Pediatr. 2017 06; 185:248-248.e1. PMID: 28363362; PMCID: PMC5529256.
    Citations: 3     Fields:    Translation:Humans
  63. Farid H, Wojcik MH, Christopher KB. A 19-year-old at 37 weeks gestation with an acute acetylsalicylic acid overdose. NDT Plus. 2011 Dec; 4(6):394-6. PMID: 25984203; PMCID: PMC4421659.
    Citations:    
  64. Wojcik MH, Meenaghan E, Lawson EA, Misra M, Klibanski A, Miller KK. Reduced amylin levels are associated with low bone mineral density in women with anorexia nervosa. Bone. 2010 Mar; 46(3):796-800. PMID: 19931436.
    Citations: 18     Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.