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John Schacht

Medical Genetics / Clinical Genetics (M.D.)

Credentials: ·

History

Pediatrics
2014–2017
Medical School
2010–2014

Research

Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders
Case report · Pediatric Research · 2020 · 24 citations
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
European Journal of Human Genetics · 2023 · 17 citations
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review
Case report · American Journal of Medical Genetics Part A · 2023 · 7 citations

BH
Brian Hughes
3 papers
MH
Mark Haigney
3 papers
Mauricio Pretelt
2 papers
MS
Mohamed Shakir
2 papers
SZ
Sidney Zven
2 papers · 2 as a fellow
TH
Thanh Hoang
2 papers
Wendy Chung
2 papers
AC
Abigail Carey
1 paper
Alejandro Iglesias
1 paper
AC
Alesky Caffo
1 paper
AG
Alexis Ghersi
1 paper · 1 as a fellow
BG
Brian Graziose
1 paper · 1 as a resident