S. Wallace

发表

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Ying Liu, Jing Xie, Eric Legius, 2015, Human mutation.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension

D. Nickerson, M. Bamshad, D. Saunders, 2016, Clinical genetics.

Assessment of the information sources and interest in research collaboration among individuals with Vascular Ehlers-Danlos Syndrome.

P. Byers, M. Driessnack, S. Wallace, 2019, Annals of vascular surgery.

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

S. Leal, D. Milewicz, D. Guo, 2019, Journal of Medical Genetics.

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

D. Nickerson, S. Leal, M. Bamshad, 2018, American journal of human genetics.

MYLK Mutations: Aortic Disease Presentation, Pregnancy Risk, and Characterization of Pathogenic Missense Variants

S. Leal, D. Milewicz, D. Guo, 2018, Genetics in Medicine.

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

Edward R. Smith, D. Nickerson, M. Bamshad, 2019, Genetics in Medicine.

Multiplexed Biosensing of Proteins and Virions with Disposable Plasmonic Assays (preprint)

N. Gadegaard, S. Wallace, A. Lapthorn, 2022, 2210.09804.

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati–Engelmann disease): Report of a four‐generation pedigree, identification of a mutation in TGFB1, and review

S. Wallace, W. Wilcox, R. Lachman, 2004, American journal of medical genetics. Part A.

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

D. Bick, S. Wallace, T. Mcgregor, 2014, Clinical genetics.

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

J. Rosenfeld, H. Mefford, E. Eichler, 2010, Genetics in Medicine.

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome

Eric Boerwinkle, Richard A. Gibbs, Sanjay Shete, 2016, Cold Spring Harbor molecular case studies.

Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2013, Human mutation.

Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision

William E. Byrd, Gabor T. Marth, David R. Murdock, 2021, Orphanet Journal of Rare Diseases.

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

A. Shelling, W. Reardon, R. Veitia, 2010, Human mutation.

Recessive mutations in VPS13D cause childhood onset movement disorders

H. Prokisch, I. Glass, D. Krainc, 2018, Annals of neurology.

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations

Jessie H. Conta, S. Gospe, S. Wallace, 2014, Neuromuscular Disorders.

A novel missense mutation in POMT 1 modulates the severe congenital muscular dystrophy phenotype associated with POMT 1 nonsense mutations

Jessie H. Conta, K. Campbell, S. Gospe, 2014 .

Molecular genetic testing for hereditary ataxia: What every neurologist should know.

T. Bird, S. Wallace, 2018, Neurology. Clinical practice.

Improving the value of costly genetic reference laboratory testing with active utilization management.

Michael L Astion, Jessie H. Conta, Monica Wellner, 2014, Archives of pathology & laboratory medicine.

Parent Perspectives of Support Received from Physicians and/or Genetic Counselors Following a Decision to Continue a Pregnancy with a Prenatal Diagnosis of Trisomy 13/18

S. Wallace, S. Dolan, Michael J. Smith, 2018, Journal of Genetic Counseling.

Genetic aortic disease epidemiology, management principles, and disparities in care.

S. Wallace, S. Shalhub, K. Newhall, 2021, Seminars in vascular surgery.

Impact of preoperative screening for rectal colonization with fluoroquinolone-resistant enteric bacteria on the incidence of sepsis following transrectal ultrasound guided prostate biopsy.

Jennifer L Hicks, S. Wallace, J. Farrell, 2017, Research and reports in urology.

Precision medical and surgical management for thoracic aortic aneurysms and acute aortic dissections based on the causative mutant gene.

D. Milewicz, S. Wallace, H. Pannu, 2016, The Journal of cardiovascular surgery.

Multiplexed Biosensing of Proteins and Virions with Disposable Plasmonic Assays.

N. Gadegaard, E. Maillart, S. Wallace, 2022, ACS sensors.

Recurrent HERV‐H‐Mediated 3q13.2–q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2013, Human mutation.