Information

Related Research Units

The Manton Center for Orphan Disease Research
Wojcik Lab Research

Education

Undergraduate School

Princeton University
Princeton NJ

Medical School

Harvard Medical School
Boston MA

Internship

Pediatrics Boston Combined Residency Program (BCRP)
Boston MA

Residency

Pediatrics Boston Combined Residency Program (BCRP)
Boston MA

Fellowship

HMS Genetics Training Program and Harvard Neonatal-Perinatal Medicine
Boston MA

Publications

  1. Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders - three cases with different clinical presentations. Front Genet. 2024; 15:1484651. View Abstract
  2. Genetic Test Utilization and Cost among Families of Children Evaluated for Genetic Conditions: An Analysis of USA Commercial Claims Data. Appl Health Econ Health Policy. 2025 Jan 08. View Abstract
  3. Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study. Neurology. 2025 Jan 14; 104(1):e210106. View Abstract
  4. Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit. Prenat Diagn. 2024 Dec 05. View Abstract
  5. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract
  6. Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. Pediatrics. 2024 Dec 01; 154(6). View Abstract
  7. Where the Genetic Code Meets the Zip Code: Advancing Equity in Rare Disease Genomics. Hastings Cent Rep. 2024 Dec; 54 Suppl 2:S49-S55. View Abstract
  8. Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders. Genet Med. 2025 Jan; 27(1):101284. View Abstract
  9. A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes (Basel). 2024 Aug 06; 15(8). View Abstract
  10. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature. 2024 Aug; 632(8026):832-840. View Abstract
  11. Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. medRxiv. 2024 Jul 01. View Abstract
  12. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 06; 390(21):1985-1997. View Abstract
  13. "It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs. Genet Med. 2024 Sep; 26(9):101177. View Abstract
  14. De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv. 2024 Apr 09. View Abstract
  15. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. Am J Hum Genet. 2024 05 02; 111(5):863-876. View Abstract
  16. Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit. J Perinatol. 2024 Aug; 44(8):1196-1202. View Abstract
  17. Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. BMJ Open. 2024 02 06; 14(2):e080529. View Abstract
  18. Sudden Unexplained Death in Childhood: Current Understanding. Pediatr Emerg Care. 2023 Dec 01; 39(12):979-983. View Abstract
  19. Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. Am J Hum Genet. 2023 12 07; 110(12):2112-2119. View Abstract
  20. The Role of Genetic Testing for Short Stature Now and in the Future. JAMA Pediatr. 2023 11 01; 177(11):1127-1128. View Abstract
  21. Final Results of GERDA on the Two-Neutrino Double-ß Decay Half-Life of ^{76}Ge. Phys Rev Lett. 2023 Oct 06; 131(14):142501. View Abstract
  22. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. medRxiv. 2023 Oct 05. View Abstract
  23. A novel syndrome associated with prenatal fentanyl exposure. Genet Med Open. 2023; 1(1):100834. View Abstract
  24. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv. 2023 Aug 13. View Abstract
  25. Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 08 03; 110(8):1229-1248. View Abstract
  26. Advancing Understanding of Inequities in Rare Disease Genomics. Clin Ther. 2023 08; 45(8):745-753. View Abstract
  27. Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure. Cold Spring Harb Mol Case Stud. 2023 06; 9(3). View Abstract
  28. Provision and availability of genomic medicine services in Level IV neonatal intensive care units. Genet Med. 2023 Oct; 25(10):100926. View Abstract
  29. Correspondence on "Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)" by Deignan, et al. Genet Med. 2023 Oct; 25(10):100904. View Abstract
  30. Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome. medRxiv. 2023 Jun 27. View Abstract
  31. Vitelline vascular remnant causing intestinal obstruction in a patient with TARP syndrome. Birth Defects Res. 2023 08 01; 115(13):1216-1221. View Abstract
  32. The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths. Front Med (Lausanne). 2023; 10:1166188. View Abstract
  33. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Am J Med Genet A. 2023 07; 191(7):1900-1910. View Abstract
  34. Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans. J Clin Invest. 2023 04 03; 133(7). View Abstract
  35. Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy. medRxiv. 2023 Mar 30. View Abstract
  36. Advancing Understanding of Inequities in Rare Disease Genomics. medRxiv. 2023 Mar 29. View Abstract
  37. AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature. Mol Genet Genomic Med. 2023 06; 11(6):e2157. View Abstract
  38. Implications of Genomic Newborn Screening for Infant Mortality. Int J Neonatal Screen. 2023 Feb 28; 9(1). View Abstract
  39. Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites. Sci Adv. 2023 02 17; 9(7):eade4814. View Abstract
  40. The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. Eur J Hum Genet. 2023 04; 31(4):461-468. View Abstract
  41. Beyond the exome: what's next in diagnostic testing for Mendelian conditions. ArXiv. 2023 Jan 18. View Abstract
  42. Trisomy 13: Survival beyond the NICU. Neoreviews. 2023 01 01; 24(1):51-56. View Abstract
  43. Hospital-level variation in genetic testing in children's hospitals' neonatal intensive care units from 2016 to 2021. Genet Med. 2023 03; 25(3):100357. View Abstract
  44. Re: "Next generation sequencing in neonatology: what does it mean for the next generation?" Hum Genet. 2023 Feb; 142(2):161-164. View Abstract
  45. Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age. Adv Genet (Hoboken). 2023 Mar; 4(1):2200012. View Abstract
  46. ECI Biocommentary: Monica Hsiung Wojcik. Pediatr Res. 2023 Jan; 93(1):9. View Abstract
  47. Integrating rapid exome sequencing into NICU clinical care after a pilot research study. NPJ Genom Med. 2022 Sep 05; 7(1):51. View Abstract
  48. Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. Pediatr Res. 2023 01; 93(1):110-117. View Abstract
  49. Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome. J Genet Couns. 2022 12; 31(6):1434-1437. View Abstract
  50. Care Intensity and Palliative Care in Chronically Critically Ill Infants. J Pain Symptom Manage. 2022 11; 64(5):486-494. View Abstract
  51. 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. View Abstract
  52. 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. View Abstract
  53. A model to implement genomic medicine in the neonatal intensive care unit. J Perinatol. 2023 02; 43(2):248-252. View Abstract
  54. Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants. JAMA Pediatr. 2022 04 01; 176(4):420-421. View Abstract
  55. Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. JAMA Neurol. 2022 04 01; 79(4):405-413. View Abstract
  56. Perspectives of United States neonatologists on genetic testing practices. Genet Med. 2022 06; 24(6):1372-1377. View Abstract
  57. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470. View Abstract
  58. Delayed diagnosis and racial bias in children with genetic conditions. Am J Med Genet A. 2022 04; 188(4):1118-1123. View Abstract
  59. Follow-up for a Preterm Infant with Beckwith-Wiedemann Syndrome. Neoreviews. 2022 01 01; 23(1):e60-e66. View Abstract
  60. Mortality in the neonatal intensive care unit: improving the accuracy of death reporting. J Perinatol. 2022 05; 42(5):671-676. View Abstract
  61. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Am J Med Genet A. 2021 12; 185(12):3770-3783. View Abstract
  62. The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Am J Public Health. 2021 07; 111(S2):S156-S162. View Abstract
  63. 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. View Abstract
  64. Commentary on a Neonate with Hypocalcemia and Cardiac Anomaly. Clin Chem. 2021 06 01; 67(6):827-828. View Abstract
  65. 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. View Abstract
  66. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375. View Abstract
  67. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 02 18; 12(1):1135. View Abstract
  68. Final Results of GERDA on the Search for Neutrinoless Double-ß Decay. Phys Rev Lett. 2020 Dec 18; 125(25):252502. View Abstract
  69. 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). View Abstract
  70. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. Am J Hum Genet. 2020 12 03; 107(6):1170-1177. View Abstract
  71. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020 11; 19(11):908-918. View Abstract
  72. 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. View Abstract
  73. Deciphering congenital anomalies for the next generation. Cold Spring Harb Mol Case Stud. 2020 10; 6(5). View Abstract
  74. 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. View Abstract
  75. Genomic Insights into Stillbirth. N Engl J Med. 2020 09 17; 383(12):1182-1183. View Abstract
  76. 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. View Abstract
  77. Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease. Kidney Int Rep. 2020 Aug; 5(8):1316-1319. View Abstract
  78. Developmental Support for Infants With Genetic Disorders. Pediatrics. 2020 05; 145(5). View Abstract
  79. Prenatal Diagnosis of a Ventral Abdominal Wall Defect. Neoreviews. 2020 04; 21(4):e286-e292. View Abstract
  80. Genetic diagnosis in the fetus. J Perinatol. 2020 07; 40(7):997-1006. View Abstract
  81. Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency. Mol Genet Genomic Med. 2020 04; 8(4):e1154. View Abstract
  82. 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. View Abstract
  83. 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. View Abstract
  84. 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. View Abstract
  85. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 12; 39(12):1611-1619. View Abstract
  86. 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. View Abstract
  87. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med. 2019 12; 21(12):2723-2733. View Abstract
  88. Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. J Pediatr. 2019 10; 213:235-240. View Abstract
  89. 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. View Abstract
  90. 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. View Abstract
  91. PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet. 2020 Feb; 63(2):103660. View Abstract
  92. 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. View Abstract
  93. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View Abstract
  94. 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. View Abstract
  95. matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat. 2018 12; 39(12):1827-1834. View Abstract
  96. 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. View Abstract
  97. Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology. J Perinatol. 2018 09; 38(9):1125-1134. View Abstract
  98. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143. View Abstract
  99. Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genet Med. 2018 11; 20(11):1396-1404. View Abstract
  100. 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. View Abstract
  101. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 02; 101(5):664-685. View Abstract
  102. Cover Image, Volume 173A, Number 8, August 2017. Am J Med Genet A. 2017 Aug; 173(8):i. View Abstract
  103. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View Abstract
  104. 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. View Abstract
  105. Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. J Pediatr. 2017 06; 185:248-248.e1. View Abstract
  106. Insulin resistance in adolescents with Turner syndrome is comparable to obese peers, but the overall metabolic risk is lower due to unknown mechanism. J Endocrinol Invest. 2015 Mar; 38(3):345-9. View Abstract
  107. A 19-year-old at 37 weeks gestation with an acute acetylsalicylic acid overdose. NDT Plus. 2011 Dec; 4(6):394-6. View Abstract
  108. Reduced amylin levels are associated with low bone mineral density in women with anorexia nervosa. Bone. 2010 Mar; 46(3):796-800. View Abstract
  109. Direct measurement of the 7Be solar neutrino flux with 192 days of borexino data. Phys Rev Lett. 2008 Aug 29; 101(9):091302. View Abstract

Contact Monica Wojcik

Print Profile