K. Brigatti

发表

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.

E. Puffenberger, K. Strauss, D. Morton, 2020, Molecular genetics and metabolism.

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

J. Rosenfeld, E. Puffenberger, F. Xia, 2020, Brain : a journal of neurology.

Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B

E. Puffenberger, K. Strauss, C. Gonzaga-Jauregui, 2022, BMC Cardiovascular Disorders.

Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.

E. Puffenberger, K. Strauss, K. Aoki, 2019, Molecular genetics and metabolism.

Effects of genetic severity on glucose homeostasis in Friedreich ataxia

D. Lynch, S. McCormack, K. Brigatti, 2016, Muscle & nerve.

TNNT1 nemaline myopathy: natural history and therapeutic frontier

K. Strauss, J. Gray, M. Lawlor, 2018, Human molecular genetics.

Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atrophy

E. Puffenberger, K. Strauss, F. Miller, 2018, Journal of pediatric orthopedics.

Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history

E. Puffenberger, K. Strauss, K. Brigatti, 2018, PloS one.

Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry

P. Bosma, K. Strauss, N. Brunetti‐Pierri, 2022, Liver international : official journal of the International Association for the Study of the Liver.

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

M. Yoder, E. Puffenberger, K. Strauss, 2018, Human molecular genetics.

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

C. Mathew, M. Simpson, N. Mailand, 2022, Nature Communications.

Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder

Bianca Migliori, Raju Tomer, S. Kushner, 2019, Nature Communications.

Crigler‐Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier

E. Puffenberger, K. Strauss, K. Soltys, 2020, Hepatology.

First-trimester screening for aneuploidy.

F. Malone, K. Brigatti, Karlla W Brigatti, 2004, Obstetrics and gynecology clinics of North America.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Ellen F. Macnamara, J. Lupski, E. Puffenberger, 2018, American journal of human genetics.

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

H. Mandel, Ann Saada, J. Staples, 2020, Molecular genetics and metabolism reports.

Genomic diagnostics within a medically underserved population: efficacy and implications

F. Dewey, E. Puffenberger, K. Strauss, 2017, Genetics in Medicine.

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

E. Puffenberger, K. Strauss, K. Millen, 2016, American journal of human genetics.

Introduction to concepts of genetics and genomics

Karlla Welch Brigatti, K. Brigatti, 2021, Genomics of Rare Diseases.

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.

W. Chung, E. Puffenberger, Z. Niu, 2021, American journal of human genetics.

Nusinersen by subcutaneous intrathecal catheter for symptomatic spinal muscular atrophy patients with complex spine anatomy

K. Strauss, F. Miller, K. Brigatti, 2021, Muscle & nerve.

Frataxin levels in peripheral tissue in Friedreich ataxia

S. Subramony, C. Gomez, S. Perlman, 2015, Annals of clinical and translational neurology.

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

H. Hakonarson, C. Siao, E. Puffenberger, 2017, American Journal of Human Genetics.

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

E. Puffenberger, K. Strauss, B. Wirth, 2020, The American Journal of Human Genetics.

Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.

E. Puffenberger, K. Strauss, D. Morton, 2020, Molecular genetics and metabolism.

A0001 in Friedreich ataxia: Biochemical characterization and effects in a clinical trial

William Shrader, Guy Miller, Robert B. Wilson, 2012, Movement disorders : official journal of the Movement Disorder Society.

Friedreich Ataxia Clinical Outcome Measures

K. Bushara, B. Ravina, T. Ashizawa, 2012, Journal of child neurology.

Progression of Friedreich ataxia: quantitative characterization over 5 years

S. Subramony, S. Perlman, K. Mathews, 2016, Annals of clinical and translational neurology.

APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain

Harrison W. Gabel, S. Gygi, E. Puffenberger, 2021, Molecular Cell.

WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy

E. Bertini, K. Strauss, A. D’Amico, 2023, Annals of clinical and translational neurology.