Yumi Enomoto

Yokohama, Japan

Last Updated: 09/26/2026

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Found 61 publications

A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus.

A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus.

Journal: Molecular syndromology

Published: November 30, 2024

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

Journal: European journal of human genetics : EJHG

Published: October 05, 2024

Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model.

Two distinct phenotypes in Snijders Blok-Campeau syndrome and characterization of the behavioral phenotype in a zebrafish model.

Journal: European journal of human genetics : EJHG

Published: August 28, 2024

Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome.

Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome.

Journal: Journal of human genetics

Published: August 24, 2024

Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU-related neurodevelopmental disorder associated with a novel nonsense variant.

Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU-related neurodevelopmental disorder associated with a novel nonsense variant.

Journal: Congenital anomalies

Published: June 05, 2024

Two siblings with acute necrotizing encephalopathy associated with variants of LARS1.

Two siblings with acute necrotizing encephalopathy associated with variants of LARS1.

Journal: American journal of medical genetics. Part A

Published: March 16, 2024

A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia.

A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia.

Journal: Clinical dysmorphology

Published: February 13, 2024

Noonan syndrome-like phenotype associated with an ERF frameshift variant.

Noonan syndrome-like phenotype associated with an ERF frameshift variant.

Journal: American journal of medical genetics. Part A

Published: December 20, 2023

GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.

GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.

Journal: American journal of medical genetics. Part A

Published: November 13, 2023

A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardation.

A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardation.

Journal: European journal of medical genetics

Published: June 12, 2023

The efficacy of a medium-chain triglyceride ketogenic diet for drug-resistant epilepsy with PIGA germline variant.

The efficacy of a medium-chain triglyceride ketogenic diet for drug-resistant epilepsy with PIGA germline variant.

Journal: Seizure

Published: June 12, 2023

Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.

Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.

Journal: Journal of human genetics

Published: May 16, 2023

Showing 1-12 of 61

Last Updated: 09/26/2026