American Board of Medical Genetics and Genomics (Clinical Genetics) | Education
Undergraduate School
Cornell University
2008, Ithaca, NY
Graduate School
University of Michigan
2017, Ann Arbor, MI
Medical School
University of Michigan
2017, Ann Arbor, MI
Internship
Pediatrics
Boston Children's Hospital
2018, Boston, MA
Residency
Combined Pediatrics and Medical Genetics Program
Boston Children's Hospital
2022, Boston, MA
American Board of Medical Genetics and Genomics (Clinical Genetics) | Publications
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders. Genet Med. 2024 Nov 12; 101326. View Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders. Abstract
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. Brain. 2024 Aug 01; 147(8):2732-2744. View De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. Abstract
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 03 07; 111(3):487-508. View Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Abstract
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms. Life Sci Alliance. 2024 03; 7(3). View USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms. Abstract
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Nat Commun. 2023 07 11; 14(1):4109. View Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Abstract
Perspectives of Rare Disease Experts on Newborn Genome Sequencing. JAMA Netw Open. 2023 05 01; 6(5):e2312231. View Perspectives of Rare Disease Experts on Newborn Genome Sequencing. Abstract
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. NPJ Genom Med. 2023 Mar 06; 8(1):7. View An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. Abstract
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genet Med. 2022 10; 24(10):2065-2078. View Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Abstract
Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations. Eur J Med Genet. 2020 Apr; 63(4):103802. View Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations. Abstract
Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency. J Pediatr. 2017 07; 186:179-182. View Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency. Abstract
Secreted HHIP1 interacts with heparan sulfate and regulates Hedgehog ligand localization and function. J Cell Biol. 2015 Jun 08; 209(5):739-57. View Secreted HHIP1 interacts with heparan sulfate and regulates Hedgehog ligand localization and function. Abstract
Distinct structural requirements for CDON and BOC in the promotion of Hedgehog signaling. Dev Biol. 2015 Jun 15; 402(2):239-52. View Distinct structural requirements for CDON and BOC in the promotion of Hedgehog signaling. Abstract
Dosage-dependent regulation of pancreatic cancer growth and angiogenesis by hedgehog signaling. Cell Rep. 2014 Oct 23; 9(2):484-94. View Dosage-dependent regulation of pancreatic cancer growth and angiogenesis by hedgehog signaling. Abstract
Ihog and Boi elicit Hh signaling via Ptc but do not aid Ptc in sequestering the Hh ligand. Development. 2014 Oct; 141(20):3879-88. View Ihog and Boi elicit Hh signaling via Ptc but do not aid Ptc in sequestering the Hh ligand. Abstract
The transcription factor GLI1 modulates the inflammatory response during pancreatic tissue remodeling. J Biol Chem. 2014 Oct 03; 289(40):27727-43. View The transcription factor GLI1 modulates the inflammatory response during pancreatic tissue remodeling. Abstract
Essential role for ligand-dependent feedback antagonism of vertebrate hedgehog signaling by PTCH1, PTCH2 and HHIP1 during neural patterning. Development. 2013 Aug; 140(16):3423-34. View Essential role for ligand-dependent feedback antagonism of vertebrate hedgehog signaling by PTCH1, PTCH2 and HHIP1 during neural patterning. Abstract
Time course of energy perturbation after compression trauma to the spinal cord: an experimental study in the rat using microdialysis. Surg Neurol. 1993 Apr; 39(4):297-304. View Time course of energy perturbation after compression trauma to the spinal cord: an experimental study in the rat using microdialysis. Abstract
Exudation of fibronectin and albumin after spinal cord injury in rats. Acta Neuropathol. 1992; 84(6):613-20. View Exudation of fibronectin and albumin after spinal cord injury in rats. Abstract