Carlos Bacino

6PUBLICATIONS
105CO-AUTHORS
NeurogeneticsNeurosciences not elsewhere classifiedNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)
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Publications (6)

|Aug 06, 2026
Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.

|Mar 18, 2024
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA.

Vijay S Ganesh, Kevin Riquin, Nicolas Chatron

|Jul 03, 2023
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.

Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh

|Jan 20, 2023
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.

Shyam K Akula, Jack H Marciano, Youngshin Lim

|Jan 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.

Yoel Gofin, Tianyun Wang, Madelyn A Gillentine

|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.

Michael D Fountain, Emmelien Aten, Megan T Cho

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Frequent Collaborators

6 joint publications

Jill A Rosenfield

2 joint publications

Evan E Eichler

2 joint publications

Anne O'Donnell-Luria

2 joint publications

Stephanie DiTroia