Lois J. Starr

Lois J. Starr

Medical Genetics

8200 Dodge St
Omaha, NE 68114

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 35 publications

Bullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?

Bullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?

Journal: American journal of medical genetics. Part A

Published: May 20, 2024

The Myhre Syndrome Foundation as a global modern support group: The business of rare.

The Myhre Syndrome Foundation as a global modern support group: The business of rare.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: May 02, 2024

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.

Journal: European journal of human genetics : EJHG

Published: October 27, 2022

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome.

Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome.

Journal: American journal of medical genetics. Part A

Published: September 26, 2022

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: September 19, 2022

Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.

Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.

Journal: American journal of medical genetics. Part A

Published: May 25, 2022

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

Journal: Clinical genetics

Published: April 20, 2021

Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy.

Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy.

Journal: Clinical dysmorphology

Published: March 24, 2021

Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.

Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.

Journal: GeroScience

Published: February 01, 2021

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Journal: American journal of medical genetics. Part A

Published: September 28, 2020

The QT Interval in Patients With the Turner Syndrome.

The QT Interval in Patients With the Turner Syndrome.

Journal: The American journal of cardiology

Published: August 12, 2020

Interdisciplinary care of children with trisomy 13 and 18.

Interdisciplinary care of children with trisomy 13 and 18.

Journal: American journal of medical genetics. Part A

Published: July 15, 2020

Showing 1-12 of 35

Last Updated: 09/26/2026