Ladonna L. Immken

Medical Genetics | Pediatrics

6811 Austin Center Blvd
Suite #400
Austin, TX 78731

Last Updated: 09/26/2026

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Found 26 publications

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

Journal: American journal of medical genetics. Part A

Published: March 15, 2022

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 06, 2020

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

Journal: American journal of human genetics

Published: September 23, 2019

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Journal: Annals of clinical and translational neurology

Published: May 13, 2018

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 20, 2018

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Journal: American journal of human genetics

Published: January 06, 2018

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 23, 2017

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies.

Journal: Clinical case reports

Published: December 07, 2017

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

Journal: American journal of human genetics

Published: August 20, 2017

Showing 1-12 of 26

Last Updated: 09/26/2026