• 2645 Citations
  • 15 Scopus h-Index
20032019
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Research Output 2003 2019

  • 2645 Citations
  • 15 Scopus h-Index
  • 35 Article
  • 1 Comment/debate
  • 1 Review article
2019

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

Liewluck, T., Niu, Z., Moore, S. A., Alsharabati, M. & Milone, M., Jan 1 2019, In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Muscular Diseases
Vacuoles
Nuclear Family
Fathers
Fingers

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

Karolak, J. A., Bacolla, A., Liu, Q., Lantz, P. E., Petty, J., Trapane, P., Panzer, K., Totapally, B. R., Niu, Z., Xiao, R., Xie, N. G., Wu, L. R., Szafranski, P., Zhang, D. Y. & Stankiewicz, P., Nov 1 2019, In : American Journal of Medical Genetics, Part A. 179, 11, p. 2272-2276 5 p.

Research output: Contribution to journalArticle

Persistent Fetal Circulation Syndrome
Mutation
Exons
CpG Islands
Tandem Repeat Sequences

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup

Kiessling, P., Dowling, E., Huang, Y., Ho, M. L., Balakrishnan, K., Weigel, B. J., Highsmith, W. E. J., Niu, Z. & Schimmenti, L. A., Apr 1 2019, In : Cold Spring Harbor molecular case studies. 5, 2

Research output: Contribution to journalArticle

Open Access
Gardner Syndrome
Tissue
Phenotype
Tooth Abnormalities
APC Genes
1 Citation (Scopus)

Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes

Sun, C., Song, J., Jiang, Y., Zhao, C., Lu, J., Li, Y., Wang, Y., Gao, M., Xi, J., Luo, S., Li, M., Donaldson, K., Oprescu, S. N., Slavin, T. P., Lee, S., Magoulas, P. L., Lewis, A. M., Emrick, L., Lalani, S. R., Niu, Z. & 10 others, Landsverk, M. L., Walkiewicz, M., Person, R. E., Mei, H., Rosenfeld, J. A., Yang, Y., Antonellis, A., Hou, Y. M., Lin, J. & Zhang, V. W., Apr 1 2019, In : Neurology: Genetics. 5, 2, e316.

Research output: Contribution to journalArticle

Open Access
Lysine-tRNA Ligase
Leukoencephalopathies
Phenotype
Mutation
Missense Mutation

Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance

Mauermann, M. M., Niu, Z., Renaud, D. L., Kemppainen, J. L., Schultz, M. J. & Klein, C. J., Jan 1 2019, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Gait
Mutation
Genes
Peripheral Nervous System Diseases
2018
2 Citations (Scopus)

A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy

Madigan, N. N., Tracy, J. A., Litchy, W. J., Niu, Z., Chen, C., Ling, K. & Milone, M., Dec 1 2018, In : Neurology: Genetics. 4, 6, e287.

Research output: Contribution to journalArticle

Mutation
Genes
tropomyosin kinase
Vacuolar myopathy
10 Citations (Scopus)

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

Palmer, E. E., Stuhlmann, T., Weinert, S., Haan, E., Van Esch, H., Holvoet, M., Boyle, J., Leffler, M., Raynaud, M., Moraine, C., Van Bokhoven, H., Kleefstra, T., Kahrizi, K., Najmabadi, H., Ropers, H. H., Delgado, M. R., Sirsi, D., Golla, S., Sommer, A., Pietryga, M. P. & 30 others, Chung, W. K., Wynn, J., Rohena, L., Bernardo, E., Hamlin, D., Faux, B. M., Grange, D. K., Manwaring, L., Tolmie, J., Joss, S., Study, D. D. D., Cobben, J. M., Duijkers, F. A. M., Goehringer, J. M., Challman, T. D., Hennig, F., Fischer, U., Grimme, A., Suckow, V., Musante, L., Nicholl, J., Shaw, M., Lodh, S. P., Niu, Z., Rosenfeld, J. A., Stankiewicz, P., Jentsch, T. J., Gecz, J., Field, M. & Kalscheuer, V. M., Feb 1 2018, In : Molecular Psychiatry. 23, 2, p. 222-230 9 p.

Research output: Contribution to journalArticle

X-Linked Genes
Mental Disorders
Intellectual Disability
Epilepsy
Mutation
6 Citations (Scopus)

Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)

Boczek, N. J., Lahner, C. A., Nguyen, T. M., Ferber, M. J., Hasadsri, L., Thorland, E. C., Niu, Z. & Gavrilova, R. M., Jan 1 2018, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Wolf-Hirschhorn Syndrome
Failure to Thrive
Genes
Exome
Head Protective Devices
7 Citations (Scopus)

Myopathy with SQSTM1 and TIA1 variants: Clinical and pathological features

Niu, Z., Pontifex, C. S., Berini, S., Hamilton, L. E., Naddaf, E., Wieben, E. D., Aleff, R. A., Martens, K., Gruber, A., Engel, A. G., Pfeffer, G. & Milone, M., Mar 19 2018, In : Frontiers in Neurology. 9, MAR, 147.

Research output: Contribution to journalArticle

Muscular Diseases
Distal Myopathies
Chromosomes
Exome
Phenotype

Recurrent Genomic Alterations in Soft Tissue Perineuriomas

Carter, J., Wu, Y., Blessing, M. M., Folpe, A. L., Thorland, E. C., Spinner, R. J., Jentoft, M. E., Wang, C., Baheti, S., Niu, Z., Mauermann, M. M. & Klein, C. J., Dec 1 2018, In : American Journal of Surgical Pathology. 42, 12, p. 1708-1714 7 p.

Research output: Contribution to journalArticle

Nerve Sheath Neoplasms
Exome
Chromosome Aberrations
Mutation
Single Nucleotide Polymorphism
2017
6 Citations (Scopus)

Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21

Martinez-Thompson, J., Niu, Z., Tracy, J. A., Moore, S. A., Swenson, A., Wieben, E. D. & Milone, M., 2017, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

Calpain
Muscles
Limb-Girdle Muscular Dystrophies
Paraspinal Muscles
Exome
3 Citations (Scopus)

Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy

Meng, L., Donti, T., Xia, F., Niu, Z., Al Shamsi, A., Hertecant, J., Al-Jasmi, F., Gibson, J. B., Nagakura, H., Zhang, J., He, W., Eng, C., Yang, Y. & Elsea, S. H., Feb 1 2017, In : American Journal of Medical Genetics, Part A. 173, 2, p. 460-470 11 p.

Research output: Contribution to journalArticle

Pyrroline Carboxylate Reductases
Microcephaly
Exome
Proline
Seizures
4 Citations (Scopus)
Optic Atrophy
Genetic Association Studies
DNA
Muscle Hypotonia
Optic Nerve
2 Citations (Scopus)

Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant

Anandan, C., Cipriani, M. A., Laughlin, R. S., Niu, Z. & Milone, M., Jan 1 2017, (Accepted/In press) In : European Journal of Neurology.

Research output: Contribution to journalArticle

Rhabdomyolysis
Hypokalemic Periodic Paralysis
Ryanodine Receptor Calcium Release Channel
Myotonia Congenita
Malignant Hyperthermia
5 Citations (Scopus)

RYR1 causing distal myopathy

Laughlin, R. S., Niu, Z., Wieben, E. D. & Milone, M., Jan 1 2017, In : Molecular Genetics and Genomic Medicine. 5, 6, p. 800-804 5 p.

Research output: Contribution to journalArticle

Distal Myopathies
Hand
Muscular Diseases
Jaw
Upper Extremity
2016
7 Citations (Scopus)

Chemokine (C-X-C) ligand 12 facilitates trafficking of donor spermatogonial stem cells

Niu, Z., Goodyear, S. M., Avarbock, M. R. & Brinster, R. L., Jan 1 2016, In : Stem Cells International. 2016, 5796305.

Research output: Contribution to journalArticle

CXC Chemokines
Stem Cells
Ligands
Spermatogenesis
Germ Cells
4 Citations (Scopus)

CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities

Leduc, M. S., Niu, Z., Bi, W., Zhu, W., Miloslavskaya, I., Chiang, T., Streff, H., Seavitt, J. R., Murray, S. A., Eng, C., Chan, A., Yang, Y. & Lalani, S. R., Aug 1 2016, In : American Journal of Medical Genetics, Part A. 170, 8, p. 2206-2211 6 p.

Research output: Contribution to journalArticle

Microcephaly
Missense Mutation
Exome
Exons
Mutation
1 Citation (Scopus)

Expanding phenotypic spectrum of NKX2-1-related disorders-mitochondrial and immunologic dysfunction

Coon, E., Eric Ahlskog, J., Patterson, M. C., Niu, Z. & Milone, M., Feb 1 2016, In : JAMA Neurology. 73, 2, p. 237-238 2 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Immune System Diseases
Pedigree
Genetic Predisposition to Disease
Nuclear Proteins
82 Citations (Scopus)

Molecular diagnostic experience of whole-exome sequencing in adult patients

Posey, J. E., Rosenfeld, J. A., James, R. A., Bainbridge, M., Niu, Z., Wang, X., Dhar, S., Wiszniewski, W., Akdemir, Z. H. C., Gambin, T., Xia, F., Person, R. E., Walkiewicz, M., Shaw, C. A., Sutton, V. R., Beaudet, A. L., Muzny, D., Eng, C. M., Yang, Y., Gibbs, R. A. & 3 others, Lupski, J. R., Boerwinkle, E. & Plon, S. E., Jul 1 2016, In : Genetics in Medicine. 18, 7, p. 678-685 8 p.

Research output: Contribution to journalArticle

Exome
Molecular Pathology
Phenotype
Dual (Psychiatry) Diagnosis
Pediatrics
22 Citations (Scopus)

POGZ truncating alleles cause syndromic intellectual disability

White, J., Beck, C. R., Harel, T., Posey, J. E., Jhangiani, S. N., Tang, S., Farwell, K. D., Powis, Z., Mendelsohn, N. J., Baker, J. A., Pollack, L., Mason, K. J., Wierenga, K. J., Arrington, D. K., Hall, M., Psychogios, A., Fairbrother, L., Walkiewicz, M., Person, R. E., Niu, Z. & 11 others, Zhang, J., Rosenfeld, J. A., Muzny, D. M., Eng, C., Beaudet, A. L., Lupski, J. R., Boerwinkle, E., Gibbs, R. A., Yang, Y., Xia, F. & Sutton, V. R., Jan 6 2016, In : Genome Medicine. 8, 1, 3.

Research output: Contribution to journalArticle

Intellectual Disability
Alleles
Exome
Mutation
Cohort Studies
2015
21 Citations (Scopus)

Hepatocellular carcinoma associated with tight-junction protein 2 deficiency

Zhou, S., Hertel, P. M., Finegold, M. J., Wang, L., Kerkar, N., Wang, J., Wong, L. J. C., Plon, S. E., Sambrotta, M., Foskett, P., Niu, Z., Thompson, R. J. & Knisely, A. S., Dec 1 2015, In : Hepatology (Baltimore, Md.). 62, 6, p. 1914-1916 3 p.

Research output: Contribution to journalArticle

Zonula Occludens-2 Protein
Protein Deficiency
Preschool Children
Liver Neoplasms
Hepatocellular Carcinoma

Molecular findings among patients referred for clinical whole-exome sequencing: Editorial comment

Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., Veeraraghavan, N., Hawes, A., Chiang, T., Leduc, M., Beuten, J., Zhang, J., He, W., Scull, J., Willis, A., Landsverk, M. & 17 others, Craigen, W. J., Bekheirnia, M. R., Stray-Pedersen, A., Liu, P., Wen, S., Alcaraz, W., Cui, H., Walkiewicz, M., Reid, J., Bainbridge, M., Patel, A., Boerwinkle, E., Beaudet, A. L., Lupski, J. R., Plon, S. E., Gibbs, R. A. & Eng, C. M., Jan 1 2015, In : Obstetrical and Gynecological Survey. 70, 3, p. 164-167 4 p.

Research output: Contribution to journalComment/debate

13 Citations (Scopus)

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

De Santo, C., D'Aco, K., Araujo, G. C., Shannon, N., Study, D. D. D., Vernon, H., Rahrig, A., Monaghan, K. G., Niu, Z., Vitazka, P., Dodd, J., Tang, S., Manwaring, L., Martir-Negron, A., Schnur, R. E., Juusola, J., Schroeder, A., Pan, V., Helbig, K. L., Friedman, B. & 1 others, Shinawi, M., Aug 11 2015, In : Journal of Medical Genetics. 52, 11, p. 754-761 8 p.

Research output: Contribution to journalArticle

Muscle Hypotonia
Mutation
Nose
Intellectual Disability
Nonsense Mediated mRNA Decay
2014
39 Citations (Scopus)

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

Burrage, L. C., Tang, S., Wang, J., Donti, T. R., Walkiewicz, M., Luchak, J. M., Chen, L. C., Schmitt, E. S., Niu, Z., Erana, R., Hunter, J. V., Graham, B. H., Wong, L. J. & Scaglia, F., Nov 1 2014, In : Molecular Genetics and Metabolism. 113, 3, p. 207-212 6 p.

Research output: Contribution to journalArticle

Sideroblastic Anemia
Mitochondrial Myopathies
Lactic Acidosis
Genes
Mutation
657 Citations (Scopus)

Molecular findings among patients referred for clinical whole-exome sequencing

Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., Veeraraghavan, N., Hawes, A., Chiang, T., Leduc, M., Beuten, J., Zhang, J., He, W., Scull, J., Willis, A., Landsverk, M. & 17 others, Craigen, W. J., Bekheirnia, M. R., Stray-Pedersen, A., Liu, P., Wen, S., Alcaraz, W., Cui, H., Walkiewicz, M., Reid, J., Bainbridge, M., Patel, A., Boerwinkle, E., Beaudet, A. L., Lupski, J. R., Plon, S. E., Gibbs, R. A. & Eng, C. M., Nov 12 2014, In : JAMA - Journal of the American Medical Association. 312, 18, p. 1870-1879 10 p.

Research output: Contribution to journalArticle

Exome
Incidental Findings
Mutation
Inborn Genetic Diseases
Genomics
37 Citations (Scopus)

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C. H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C. T., Barbaro-Dieber, T., Kukolich, M. K., Burrage, L. C., Austin, E., Keller, K., Pastore, M., Fernandez, F., Lotze, T., Wilfong, A., Purcarin, G. & 18 others, Zhu, W., Craigen, W. J., McGuire, M., Jain, M., Cooney, E., Azamian, M., Bainbridge, M. N., Muzny, D. M., Boerwinkle, E., Person, R. E., Niu, Z., Eng, C. M., Lupski, J. R., Gibbs, R. A., Beaudet, A. L., Yang, Y., Wang, M. C. & Xia, F., Jan 1 2014, In : American Journal of Human Genetics. 95, 5, p. 579-583 5 p.

Research output: Contribution to journalArticle

Muscle Hypotonia
Brain Diseases
Seizures
Mutation
Epilepsy
2013
1016 Citations (Scopus)

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A., Ward, P. A., Braxton, A., Beuten, J., Xia, F., Niu, Z., Hardison, M., Person, R., Bekheirnia, M. R., Leduc, M. S., Kirby, A., Pham, P., Scull, J., Wang, M., Ding, Y., Plon, S. E. & 4 others, Lupski, J. R., Beaudet, A. L., Gibbs, R. A. & Eng, C. M., Jan 1 2013, In : New England Journal of Medicine. 369, 16, p. 1502-1511 10 p.

Research output: Contribution to journalArticle

Exome
Phenotype
Alleles
X-Linked Genes
Inborn Genetic Diseases
5 Citations (Scopus)

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome

Vatta, M., Niu, Z., Lupski, J. R., Putnam, P., Spoonamore, K. G., Fang, P., Eng, C. M. & Willis, A. S., Dec 1 2013, In : American Journal of Medical Genetics, Part A. 161, 12, p. 3182-3186 5 p.

Research output: Contribution to journalArticle

CHARGE Syndrome
Exons
Genetic Databases
Multiplex Polymerase Chain Reaction
Mutation
91 Citations (Scopus)

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Berryer, M. H., Hamdan, F. F., Klitten, L. L., Møller, R. S., Carmant, L., Schwartzentruber, J., Patry, L., Dobrzeniecka, S., Rochefort, D., Neugnot-Cerioli, M., Lacaille, J. C., Niu, Z., Eng, C. M., Yang, Y., Palardy, S., Belhumeur, C., Rouleau, G. A., Tommerup, N., Immken, L., Beauchamp, M. H. & 7 others, Patel, G. S., Majewski, J., Tarnopolsky, M. A., Scheffzek, K., Hjalgrim, H., Michaud, J. L. & Di Cristo, G., Feb 1 2013, In : Human Mutation. 34, 2, p. 385-394 10 p.

Research output: Contribution to journalArticle

Haploinsufficiency
Autistic Disorder
Intellectual Disability
Epilepsy
Mutation
2011
30 Citations (Scopus)

In vivo and in vitro aging is detrimental to mouse spermatogonial stem cell function

Schmidt, J. A., Abramowitz, L. K., Kubota, H., Wu, X., Niu, Z., Avarbock, M. R., Tobias, J. W., Bartolomei, M. S. & Brinster, R. L., Apr 1 2011, In : Biology of Reproduction. 84, 4, p. 698-706 9 p.

Research output: Contribution to journalArticle

Stem Cells
Gene Expression
Stem Cell Niche
Homeodomain Proteins
Cell Aging
164 Citations (Scopus)

MicroRNA-21 regulates the self-renewal of mouse spermatogonial stem cells

Niu, Z., Goodyear, S. M., Rao, S., Wu, X., Tobias, J. W., Avarbock, M. R. & Brinster, R. L., Aug 2 2011, In : Proceedings of the National Academy of Sciences of the United States of America. 108, 31, p. 12740-12745 6 p.

Research output: Contribution to journalArticle

MicroRNAs
Stem Cells
Germ Cells
Testis
Population
2009
39 Citations (Scopus)

SMYD1, the myogenic activator, is a direct target of serum response factor and myogenin

Li, D., Niu, Z., Yu, W., Qian, Y., Wang, Q., Li, Q., Yi, Z., Luo, J., Wu, X., Wang, Y., Schwartz, R. J. & Liu, M., Sep 25 2009, In : Nucleic Acids Research. 37, 21, p. 7059-7071 13 p., gkp773.

Research output: Contribution to journalArticle

Serum Response Factor
Myogenin
Myocardium
E-Box Elements
Muscles
2008
77 Citations (Scopus)

Serum response factor orchestrates nascent sarcomerogenesis and silences the biomineralization gene program in the heart

Niu, Z., Iyer, D., Conway, S. J., Martin, J. F., Ivey, K., Srivastava, D., Nordheim, A. & Schwartz, R. J., Nov 18 2008, In : Proceedings of the National Academy of Sciences of the United States of America. 105, 46, p. 17824-17829 6 p.

Research output: Contribution to journalArticle

Serum Response Factor
Bone Morphogenetic Protein 4
Genes
Down-Regulation
Calcium-Activated Potassium Channels
2007
87 Citations (Scopus)

Serum response factor micromanaging cardiogenesis

Niu, Z., Li, A., Zhang, S. X. & Schwartz, R. J., Dec 1 2007, In : Current Opinion in Cell Biology. 19, 6, p. 618-627 10 p.

Research output: Contribution to journalReview article

Serum Response Factor
MicroRNAs
Contractile Proteins
Sarcomeres
Muscle Proteins
117 Citations (Scopus)

Sox17 is essential for the specification of cardiac mesoderm in embryonic stem cells

Liu, Y., Asakura, M., Inoue, H., Nakamura, T., Sano, M., Niu, Z., Chen, M., Schwartz, R. J. & Schneider, M. D., Mar 6 2007, In : Proceedings of the National Academy of Sciences of the United States of America. 104, 10, p. 3859-3864 6 p.

Research output: Contribution to journalArticle

Mesoderm
Embryonic Stem Cells
Muscle Development
Small Interfering RNA
Transcription Factors
2005
90 Citations (Scopus)

Conditional mutagenesis of the murine serum response factor gene blocks cardiogenesis and the transcription of downstream gene targets

Niu, Z., Yu, W., Zhang, S. X., Barron, M., Belaguli, N. S., Schneider, M. D., Parmacek, M., Nordheim, A. & Schwartz, R. J., Sep 16 2005, In : Journal of Biological Chemistry. 280, 37, p. 32531-32538 8 p.

Research output: Contribution to journalArticle

Serum Response Factor
Mutagenesis
Transcription
Genes
Ablation
2003

Stability and reaction of the dithiocarbamate-ferrous-NO complex in PMA-stimulated peritoneal macrophages

Zhang, D., Niu, Z., Wan, Q. & Zhao, B., Jun 2 2003, In : Research on Chemical Intermediates. 29, 2, p. 201-212 12 p.

Research output: Contribution to journalArticle

Macrophages
Acetates
Salts
Free Radicals
Sarcosine