W. Xin

发表

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Brittany N. Lasseigne, W. Chung, D. Goldstein, 2015, Science.

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.

J. Cooper, R. Giugliani, Z. Lukacs, 2016, Molecular genetics and metabolism.

Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea[S]

Robert V Farese, W. Chung, Shirly Pinto, 2017, Journal of Lipid Research.

Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers.

Caifeng Zhao, K. Sims, D. Sleat, 2017, Journal of proteome research.

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

K. Sims, S. Cotman, J. Staropoli, 2012, BMC Medical Genetics.

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

M. Daly, M. MacDonald, Andrew W. Kirby, 2012, American journal of human genetics.

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

P. Andersen, E. Pioro, W. Seltzer, 2003 .

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis

Robert H. Brown, P. Andersen, E. Pioro, 2003 .

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene in and for Therapeutic

Timothy A. Miller, Denis C. Bauer, Shankaracharya, 2018 .

Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea patient-oriented and epidemiological research

Robert V Farese, Shirly Pinto, T. Walther, 2020 .

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.

K. Sims, W. Xin, I. Noher de Halac, 2015, Biochimica et biophysica acta.

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

S. Züchner, W. Brown, Michael A. Gonzalez, 2012, PloS one.

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.

Robert H. Brown, P. Andersen, E. Pioro, 2003, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

S. Züchner, W. Brown, Michael A. Gonzalez, 2012, PLoS ONE.

Mutational spectrum of the NF2 gene: a meta‐analysis of 12 years of research and diagnostic laboratory findings

K. Sims, M. Maccollin, W. Xin, 2007, Human mutation.

Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.

B. Maron, R. Desnick, M. Maron, 2017, The American journal of medicine.

Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

K. Sims, D. Pearce, W. Xin, 2013, Gene.

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

H. Goebel, T. Mullen, Y. Shen, 2010, Neurology.

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience

T. Mullen, K. Sims, J. Staropoli, 2012, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

Mass Spectrometry-based Protein Profiling to Determine the Cause of Lysosomal Storage Diseases of Unknown Etiology*

Caifeng Zhao, K. Sims, D. Sleat, 2009, Molecular & Cellular Proteomics.

Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4

K. Sims, J. Staropoli, W. Xin, 2010, Journal of Medical Genetics.

Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort.

N. Leach, W. Xin, L. S. Rosenblum, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.

W. Xin, R. Piña-Aguilar, K. Goss, 2015, World journal of gastroenterology.

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Matthew T. Sweney, J. Roach, D. Galas, 2015, PLoS ONE.

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Jared C. Roach, Gustavo Glusman, Fengfeng Zhou, 2015, PloS one.

Huntington Disease: Molecular Diagnostics Approach

M. Bastepe, W. Xin, 2015, Current protocols in human genetics.

Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress

J. Landers, G. Hu, J. Sheng, 2012, Angiogenesis.

Angiogenin loss‐of‐function mutations in amyotrophic lateral sclerosis

A. Iafrate, Yiping Shen, R. Folkerth, 2007, Annals of neurology.

Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress

Robert H. Brown, J. Landers, G. Hu, 2013, Angiogenesis.

Novel recruitment strategy to enrich for LRRK2 mutation carriers

T. Foroud, L. Wetherill, K. Marek, 2015, Molecular genetics & genomic medicine.

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Matthew T. Sweney, J. Roach, D. Galas, 2015, PloS one.

Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

S. Züchner, W. Brown, Michael A. Gonzalez, 2012, PLoS ONE.

Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

K. Sims, D. Pearce, W. Xin, 2013, Gene.

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

M. Daly, M. MacDonald, Andrew W. Kirby, 2012, American journal of human genetics.

Mutation in 5′ upstream region of GCHI gene causes familial dopa‐responsive dystonia

Trisha J. Multhaupt-Buell, L. Ozelius, K. Sims, 2011, Movement disorders : official journal of the Movement Disorder Society.