Monica Wojcik

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
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