Ikuko Ohashi

Yokohama, Japan

Last Updated: 09/26/2026

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Found 13 publications

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Journal: Clinical genetics

Published: November 04, 2021

6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.

6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability.

Journal: Clinical dysmorphology

Published: March 24, 2021

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.

Journal: American journal of medical genetics. Part A

Published: March 26, 2020

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.

Journal: Human genome variation

Published: July 06, 2019

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.

Journal: Journal of human genetics

Published: April 23, 2018

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1.

Journal: Congenital anomalies

Published: December 19, 2017

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

Journal: Human genome variation

Published: January 19, 2017

A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.

A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.

Journal: American journal of medical genetics. Part A

Published: October 24, 2014

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.

Journal: American journal of medical genetics. Part A

Published: August 13, 2014

West syndrome in a patient with Schinzel-Giedion syndrome.

West syndrome in a patient with Schinzel-Giedion syndrome.

Journal: Journal of child neurology

Published: January 04, 2014

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.

Journal: American journal of medical genetics. Part A

Published: September 25, 2013

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.

Journal: American journal of medical genetics. Part A

Published: September 25, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026