MEDICAL SERVICES

EDUCATION

Undergraduate Degree

  • Princeton University , Princeton , NJ

Medical School

  • Harvard Medical School , Boston , MA

Internship

  • Boston Combined Residency Program (BCRP) , Boston , MA

Residency

  • Boston Combined Residency Program (BCRP) , Boston , MA

Fellowship

  • Harvard Program in Neonatal-Perinatal Medicine , Boston , MA

PROFESSIONAL HISTORY

I am an attending physician in both the divisions of newborn medicine and genetics and genomics. My ongoing research strives to understand how clinical genetics/genomic medicine can improve the care of high-risk neonates, from improving our understanding of infant mortality to providing early developmental supports for infants diagnosed with rare genetic disorders. I care for infants in the neonatal intensive care unit and I also see infants diagnosed with genetic conditions as outpatients in the NICU GraDS program in order to support optimal growth and development. In addition, I have a general genetics clinic and see inpatient consults on the genetics and metabolism service. In addition to my clinical research at Boston Children's Hospital, I also work in novel disease gene discovery and towards novel methods for genetic diagnosis with the Center for Mendelian Genomics at the Broad Institute of MIT and Harvard.

I received my medical degree from Harvard Medical School, after which I completed my pediatrics residency training with the Boston Combined Residency Program at Boston Children's Hospital and Boston Medical Center. I then pursued combined training in neonatal-perinatal medicine and in clinical genetics and genomics in order to develop my clinical expertise in both specialties.

CERTIFICATIONS

  • American Board of Pediatrics, General Pediatrics

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Mortality in the neonatal intensive care unit: improving the accuracy of death reporting. J Perinatol. 2021 Sep 28. View abstract
  2. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Am J Med Genet A. 2021 Aug 09. View abstract
  3. The Unrecognized Mortality Burden of Genetic Disorders in Infancy. Am J Public Health. 2021 07; 111(S2):S156-S162. View abstract
  4. 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 Jul; 41(7):1745-1754. View abstract
  5. Commentary on a Neonate with Hypocalcemia and Cardiac Anomaly. Clin Chem. 2021 Jun 01; 67(6):827-828. View abstract
  6. 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
  7. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375. View abstract
  8. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 02 18; 12(1):1135. View abstract
  9. 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 Dec; 6(49). View abstract
  10. 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
  11. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020 11; 19(11):908-918. View abstract
  12. 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
  13. Deciphering congenital anomalies for the next generation. Cold Spring Harb Mol Case Stud. 2020 10; 6(5). View abstract
  14. 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
  15. Genomic Insights into Stillbirth. N Engl J Med. 2020 09 17; 383(12):1182-1183. View abstract
  16. 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
  17. Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease. Kidney Int Rep. 2020 Aug; 5(8):1316-1319. View abstract
  18. Developmental Support for Infants With Genetic Disorders. Pediatrics. 2020 05; 145(5). View abstract
  19. Prenatal Diagnosis of a Ventral Abdominal Wall Defect. Neoreviews. 2020 04; 21(4):e286-e292. View abstract
  20. Genetic diagnosis in the fetus. J Perinatol. 2020 07; 40(7):997-1006. View abstract
  21. 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
  22. 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
  23. 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
  24. 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
  25. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 12; 39(12):1611-1619. View abstract
  26. 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
  27. 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
  28. 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
  29. 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
  30. Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders. . 2019 08; 179(8):1565-1569. View abstract
  31. PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene. Eur J Med Genet. 2020 Feb; 63(2):103660. View abstract
  32. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. . 2019 07; 179(7):1299-1303. View abstract
  33. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View abstract
  34. 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
  35. matchbox: An open-source tool for patient matching via the Matchmaker Exchange. Hum Mutat. 2018 12; 39(12):1827-1834. View abstract
  36. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. . 2018 12; 176(12):2623-2629. View abstract
  37. 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
  38. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143. View abstract
  39. 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
  40. Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genet Med. 2018 11; 20(11):1396-1404. View abstract
  41. 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
  42. Cover Image, Volume 173A, Number 8, August 2017. Am J Med Genet A. 2017 Aug; 173(8):i. View abstract
  43. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View abstract
  44. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema. . 2017 Aug; 173(8):2235-2239. View abstract
  45. Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome. J Pediatr. 2017 06; 185:248-248.e1. View abstract
  46. A 19-year-old at 37 weeks gestation with an acute acetylsalicylic acid overdose. NDT Plus. 2011 Dec; 4(6):394-6. View abstract
  47. Reduced amylin levels are associated with low bone mineral density in women with anorexia nervosa. Bone. 2010 Mar; 46(3):796-800. View abstract