Jill A. Rosenfeld

发表

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

G. Carvill, H. Mefford, S. Berkovic, 2023, medRxiv.

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

Denise G. Lanza, Jason D. Heaney, J. Posey, 2024, American journal of human genetics.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Gabor T. Marth, Laurel A. Cobban, Lisa T. Emrick, 2024, American journal of human genetics.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

M. Wangler, Paul C. Marcogliese, Hyung-Lok Chung, 2020, Neuron.

De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects

Lauren S Blieden, S. Lalani, B. Mandriani, 2024, medRxiv.

VarSight: prioritizing clinically reported variants with binary classification algorithms

Gabor T. Marth, David R. Murdock, Alexander C. Moss, 2019, BMC Bioinformatics.

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

S. Lalani, R. Louie, G. Chillemi, 2024, Nature communications.

Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1.

J. Rosenfeld, A. Halbower, A. Hamvas, 2013, Chest.