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Ronit Marom

5PUBLICATIONS

41CO-AUTHORS

Medical physiology not elsewhere classifiedMedical infection agents (incl. prions)Epigenetics (incl. genome methylation and epigenomics)Clinical nutritionMicroelectromechanical systems (MEMS)

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Publications (5)

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|Apr 06, 2026

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency.

Aaron Williams, Kristian Divin, Lindsay C Burrage

|Nov 07, 2023

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.

Ronit Marom, Bo Zhang, Megan E Washington

|Aug 07, 2023

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework.

Alexander J M Dingemans, Max Hinne, Kim M G Truijen

|Jul 24, 2023

Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance.

Bridget M Stroup, Xiaohui Li, Sara Ho

|Nov 27, 2019

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Nurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson

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Frequent Collaborators

2 joint publications

Brendan Lee

2 joint publications

Lindsay C Burrage

1 joint publications

Jennifer E Posey

1 joint publications

James R Lupski

1 joint publications

Michael F Wangler

1 joint publications

Bridget M Stroup

1 joint publications

Lia Goltstein

1 joint publications

Jeroen van Reeuwijk

1 joint publications

Nicole de Leeuw

1 joint publications

Joery den Hoed

Frequent Collaborators

2 joint publications

Brendan Lee

2 joint publications

Lindsay C Burrage

1 joint publications

Jennifer E Posey

1 joint publications

James R Lupski

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