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Alexander Holtz, MD, PhD
Attending Physician, Division of Genetics and Genomics
Instructor, Harvard Medical School
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Alexander Holtz, MD, PhD
Attending Physician, Division of Genetics and Genomics
Instructor, Harvard Medical School
Medical Services
Languages
English
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
Certifications
American Board of Medical Genetics and Genomics (Clinical Genetics)
Professional History
Dr. Holtz is a board-certified physician in Genetics and Genomics at Boston Children's Hospital. He is also a post-doctoral researcher in the lab of Dr. Darrell Kotton at Boston Medical Center and Boston University. Dr. Holtz specializes in pediatric genetics seeing children with complex medical and neurodevelopmental challenges. He has a special emphasis on disorders that affect the lungs including interstitial lung disease and pulmonary hypertension. Dr. Holtz's research is focused on developing cellular therapies using stem cells for children with genetic respiratory disorders.
Publications
Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders. View Abstract
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. View Abstract
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. View Abstract
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms. View Abstract
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. View Abstract
Perspectives of Rare Disease Experts on Newborn Genome Sequencing. View Abstract
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. View Abstract
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. View Abstract
Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations. View Abstract
Acute Liver Failure Secondary to Neuroblastoma Amplified Sequence Deficiency. View Abstract
Secreted HHIP1 interacts with heparan sulfate and regulates Hedgehog ligand localization and function. View Abstract
Distinct structural requirements for CDON and BOC in the promotion of Hedgehog signaling. View Abstract
Dosage-dependent regulation of pancreatic cancer growth and angiogenesis by hedgehog signaling. View Abstract
Ihog and Boi elicit Hh signaling via Ptc but do not aid Ptc in sequestering the Hh ligand. View Abstract
The transcription factor GLI1 modulates the inflammatory response during pancreatic tissue remodeling. View Abstract
Essential role for ligand-dependent feedback antagonism of vertebrate hedgehog signaling by PTCH1, PTCH2 and HHIP1 during neural patterning. View Abstract
Time course of energy perturbation after compression trauma to the spinal cord: an experimental study in the rat using microdialysis. View Abstract
Exudation of fibronectin and albumin after spinal cord injury in rats. View Abstract