M. Towne

发表

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

S. Prabhu, S. Morton, K. Schmitz‐Abe, 2016, JIMD reports.

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.

C. Brownstein, A. Beggs, P. Pearl, 2016, Pediatric neurology.

genome-wide association study locus Rare complete loss of function provides insight into a pleiotropic

K. Schmitz‐Abe, K. Markianos, V. Sankaran, 2013 .

Time-dependent and tissue factor addition mask the ability of platelet polyphosphates

Meghan C Towne, M. Towne, Nicholas S Marinakis, 2013 .

Misattributed parentage identified through diagnostic exome sequencing: Frequency of detection and reporting practices

M. Towne, D. El-Khechen, Julie Stefka, 2021, Journal of genetic counseling.

Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study

Meghan C Towne, A. Beggs, I. Holm, 2016, PloS one.

Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher

Meghan C Towne, B. Wayburn, M. Towne, 2021, Human mutation.

Three‐generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome

Meghan C Towne, Yiping Shen, M. Towne, 2018, American journal of medical genetics. Part A.

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Meghan C Towne, P. Newburger, M. Fleming, 2015, Blood.

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

J. Hirschhorn, C. Brownstein, A. Beggs, 2015, The Journal of clinical endocrinology and metabolism.

Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant

Meghan C Towne, Colin A. Ellis, T. Olson, 2022, British journal of haematology.

Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum

Meghan C Towne, David T. Miller, N. Stenquist, 2016, Neonatology.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Meghan C Towne, Sharyn A. Lincoln, Stephan J Sanders, 2017, American journal of human genetics.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.

K. Markianos, V. Sankaran, G. Berry, 2013, Blood.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Meghan C Towne, Lovelace J. Luquette, C. Brownstein, 2013, European journal of medical genetics.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Jill A. Madden, E. Roeder, A. Fatemi, 2021, Molecular genetics & genomic medicine.

NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings

J. Stoler, D. Dukhovny, M. Towne, 2014, Journal of Perinatology.

When moments matter: Finding answers with rapid exome sequencing

J. Graham, L. Randolph, E. Palmaer, 2019, Molecular genetics & genomic medicine.

Genetic Disorders and Mortality in Infancy and Early Childhood: Delayed Diagnoses and Missed Opportunities

Inbar Yamin, M. Wojcik, M. Towne, 2018, Genetics in Medicine.

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

Meghan C Towne, Catherine A. Brownstein, Pankaj B. Agrawal, 2016, Cold Spring Harbor molecular case studies.

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

S. Sajan, E. Palmaer, M. Towne, 2019, Clinical genetics.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

Expanding the phenotypic spectrum associated with OPHN1 variants.

Meghan C Towne, A. Beggs, I. Holm, 2019, European journal of medical genetics.

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

Mugdha Joshi, Klaus Schmitz-Abe, Jiahai Shi, 2016, Cold Spring Harbor molecular case studies.

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy

M. Wegner, C. Brownstein, A. Beggs, 2017, Muscle and Nerve.

Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia

Jacob C. Ulirsch, N. Mohandas, J. Hale, 2016, Cold Spring Harbor molecular case studies.

The Epithelial Sodium Channel Is a Modifier of the Long‐Term Nonprogressive Phenotype Associated with F508del CFTR Mutations

Meghan C Towne, M. Bamshad, M. Emond, 2017, American journal of respiratory cell and molecular biology.

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports

Yiping Shen, Va Lip, Catherine A Brownstein, 2016, American journal of medical genetics. Part A.

Backpack health reduces data‐sharing barriers between the medical community and individuals with rare diseases

H. LaDuca, M. Towne, Lauren May, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene.

Meghan C Towne, T. Chatila, C. Brownstein, 2018, Journal of autoimmunity.

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia

Meghan C Towne, A. Beggs, A. McIntyre, 2014, European Journal of Human Genetics.

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Meghan C Towne, E. Eichler, H. Hakonarson, 2023, Science Translational Medicine.

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Meghan C Towne, S. Ferdinandusse, C. Brownstein, 2018, JIMD reports.

Genetic Disorders and Mortality in Infancy and Early Childhood: Delayed Diagnoses and Missed Opportunities

Inbar Yamin, M. Wojcik, M. Towne, 2018, Genetics in Medicine.

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

Meghan C Towne, C. Brownstein, A. Beggs, 2015, neurogenetics.

How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty.

M. Towne, Rachel Epstein, Victoria Suslovitch, 2023, Journal of genetic counseling.