Lois J. Starr

发表

Fumonisins disrupt sphingolipid metabolism, folate transport, and neural tube development in embryo culture and in vivo: a potential risk factor for human neural tube defects among populations consuming fumonisin-contaminated maize.

S. Missmer, V. Stevens, A. Merrill, 2004, The Journal of nutrition.

PIGQ glycosylphosphatidylinositol‐anchored protein deficiency: Characterizing the phenotype

V. Rao, Lois J. Starr, A. Yetman, 2019, American journal of medical genetics. Part A.

Delineating Phenotypes of Rare Disease

Lois J. Starr, L. Starr, 2019 .

Eliciting Narratives to Inform Care for Infants With Trisomy 18

Lois J. Starr, M. Weaver, J. Hammel, 2018, Pediatrics.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Michael F. Wangler, E. Zackai, David T. Miller, 2018, Genetics in Medicine.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

Michelle S. Miller, G. Mortier, M. Simpson, 2014, European Journal of Human Genetics.

Utilization of echocardiography in Ehlers-Danlos syndrome.

Lois J. Starr, A. Yetman, Kristina K Rauser-Foltz, 2019, Congenital heart disease.

Clinical and Echocardiographic Prevalence and Detection of Congenital and Acquired Cardiac Abnormalities in Girls and Women with the Turner Syndrome.

Lois J. Starr, J. Sanmann, A. Yetman, 2018, The American journal of cardiology.

Newly described recessive MYH11 disorder with clinical overlap of Multisystemic smooth muscle dysfunction and Megacystis microcolon hypoperistalsis syndromes

Lois J. Starr, A. Yetman, L. Starr, 2018, American journal of medical genetics. Part A.

Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy

L. Meyers, S. Bleyl, Lois J. Starr, 2015, Pediatrics.

Searching for Electrical Properties, Phenomena and Mechanisms in the Construction and Function of Chromosomes

W. Sanger, B. Dave, A. Mizuno, 2013, Computational and Structural Biotechnology Journal.

Maternal fumonisin exposure and risk for neural tube defects: mechanisms in an in vivo mouse model.

R. Riley, J. G. Gelineau-van Waes, J. Maddox, 2005, Birth defects research. Part A, Clinical and molecular teratology.

Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss‐of‐function disorder, a SWI/SNF‐related intellectual disability

Scott C. Smith, R. Khazanchi, Lois J. Starr, 2019, American journal of medical genetics. Part A.

Kawasaki Disease in a Patient With Williams Syndrome

Lois J. Starr, J. Cramer, Aleisha M Nabower, 2020, World journal for pediatric & congenital heart surgery.

2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.

A. Popejoy, A. Philp, F. Quintero-Rivera, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Expanding the phenotype of HNRNPU-related disorders to include brief, resolved, unexplained events (BRUE)

Kristen P Fishler, Lois J. Starr, J. Scheffler, 2021, Molecular Genetics and Metabolism.

Vascular dissection in women with turner syndrome.

Lois J. Starr, J. Sanmann, A. Yetman, 2020, International journal of cardiology.

Autism spectrum disorder and genetic testing: Parental perceptions and decision‐making

Marlene Z. Cohen, Lois J. Starr, A. Hanish, 2018, Journal for specialists in pediatric nursing : JSPN.

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

C. Cummings, Lois J. Starr, 2022, American journal of medical genetics. Part A.

Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray

W. Sanger, B. Dave, Lois J. Starr, 2015, Genetics in Medicine.

Genetic Abnormalities

Lois J. Starr, Carey Ronspies, Danita Velasco, 2020, The Encyclopedia of Child and Adolescent Development.