From my first medical school rotations, I found caring for children to be the most rewarding area of medicine. Today, I am lucky to care for children and their families as a neonatologist (newborn doctor) and clinical geneticist. Combining the fields of genetics and neonatal-perinatal medicine is extremely gratifying.
As a neonatologist, I spend much of my time in the Neonatal Intensive Care Unit (NICU). The NICU is a truly special place to work. We care for critically ill infants with a wide range of medical problems, from prematurity to complex genetic syndromes. We also provide the total care our patients need, from short inpatient stays for common newborn issues to working with talented subspecialists on complex conditions.
As a board-certified medical geneticist, I care for infants and children with congenital malformations, suspected genetic syndromes, and complex or undiagnosed conditions. The technologies available to diagnose infants and children with a suspected genetic disorder are rapidly advancing. I am passionate about leveraging these new technologies, such as whole-exome (WES) and whole-genome sequencing (WGS), in a way that will allow us to take the best possible care of the infants in the NICU.
I also play an active role in the inpatient Clinical Genetics consult service and outpatient Fetal Care team. Through the Fetal Care program, we are able to help provide a diagnosis for families before their child is born so that we can provide the highest level of care during pregnancy, delivery and after birth. I enjoy caring for children admitted to the hospital with metabolic conditions. I also enjoy helping clinical teams across the hospital find a genetic diagnosis and guide ongoing care in complex cases.
Whatever the clinical setting, the most rewarding part of my job is to see some of the most fragile patients in the hospital flourish under our care and go on to lead happy, healthy and productive lives.
MD: Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 2007.
Residency: General Pediatrics, Baylor College of Medicine & Texas Children’s Hospital, Houston, TX, 2007-2010.
Fellowship: Combined Fellowship in Neonatal-Perinatal Medicine and Medical Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA, 2010-2015.
Board Certifications: General Pediatrics, 2010; Medical Genetics & Genomics, 2015; Neonatal-Perinatal Medicine, 2016.
General neonatology (including prematurity); genetic & genomic testing in the NICU; diagnosis and management of suspected genetic conditions in the NICU; inpatient genetics; evaluation and management of isolated and syndromic congenital malformations.
Neonatology, Perinatal, Human Genetics
Use of genomic technologies in inpatient pediatrics; applying computational methods (such as natural language processing and AI) to improve diagnosis in the NICU; management of congenital malformations and genetic disorders.
Neonatology, Perinatal Biology, Human Genetics
PRDM3/16 regulate chromatin accessibility required for NKX2-1 mediated alveolar epithelial differentiation and function. Nature Communications. 2024; 15:8112.
1 Multicenter, prospective cohort of genome sequencing in 750 fetal structural anomalies. American Journal of Obstetrics and Gynecology. 2024; 230:s2.
P294: Exploring episignatures as a potential diagnostic tool for diabetic embryopathy. 2024; 2:101190.
Alveolar epithelial progenitor cells require Nkx2-1 to maintain progenitor-specific epigenomic state during lung homeostasis and regeneration. Nature Communications. 2023; 14:8452.
Twin-twin transfusion syndrome recipient with arterial calcification and heterozygous variant in ABCC6: Evidence of a gene-environment interaction?. Prenatal Diagnosis. 2023; 43:1092-1095.
Sleep Apnea in Children With Down Syndrome. Pediatrics. 2023; 151:e2022058771.
Fetal maturation revealed by amniotic fluid cell-free transcriptome in rhesus macaques. JCI insight. 2022; 7:e162101.
PI3K signaling specifies proximal-distal fate by driving a developmental gene regulatory network in SOX9+ mouse lung progenitors. eLife. 2022; 11:e67954.
Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18. The Journal of Pediatrics. 2022; 247:116-123.e5.
Detection and impact of genetic disease in a level IV neonatal intensive care unit. Journal of Perinatology. 2022; 42:580-588.
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