Richard P Lifton

8PUBLICATIONS
113CO-AUTHORS
Electronic and magnetic properties of condensed matter; superconductivityEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Gene mappingNeurogenetics
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Publications (8)

|Jul 08, 2026
Developmental genetic determinants of the human cerebrospinal fluid-ventricular system.

|Aug 04, 2025
A recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma.

Xingyuan Jiang, Ryland D Mortlock, Nathalie Pironon

|Mar 24, 2025
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes.

Michael C Sierant, Sheng Chih Jin, Kaya Bilguvar

|Mar 03, 2025
Recessive genetic contribution to congenital heart disease in 5,424 probands.

Weilai Dong, Sheng Chih Jin, Michael C Sierant

|Jun 25, 2024
Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.

Tyrone DeSpenza, Amrita Singh, Garrett Allington

|Jun 16, 2022
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.

Qian Zhang, Daniela Matuozzo, Jérémie Le Pen

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Frequent Collaborators

4 joint publications

Junhui Zhang

3 joint publications

Daniel Bernstein

3 joint publications

Christine E Seidman

3 joint publications

Sarah U Morton