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Neal Niu, Ph.D.

  1. Clinical Molecular Geneticist
预约门诊

出版物

  1. Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy. Ann Clin Transl Neurol. 2024 Aug 30 [Epub ahead of print]
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  2. Meiling JB, Boon AJ, Niu Z, Howe BM, Hoskote SS, Spinner RJ, Klein CJ. Parsonage-Turner Syndrome and Hereditary Brachial Plexus Neuropathy. Mayo Clin Proc. 2024 Jan; 99 (1):124-140
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  3. Piat C, Ross OA, Springer W, Benarroch EE, Layne Moore J, Lauer E, Niu Z, Savica R. Valosin-containing-protein pathogenic variant p.R487H in Parkinson's disease. Clin Park Relat Disord. 2024; 10:100236 Epub 2024 Jan 18
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  4. Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H, Medical Genome Initiative Steering Committee. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 Dec; 25(12):100947. Epub 2023 Jul 30.
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  5. Rashed HR, Niu Z, Dyck PJ, Dyck PJB, Mauermann ML, Berini SE, Dubey D, Mills JR, Staff NP, Wu Y, Spinner RJ, Dasari S, Klein CJ. Nerve transcriptomes in autoimmune and genetic demyelinating neuropathies: Pathogenic pathway assessment of nerve demyelination. J Neuroimmunol. 2023 Nov 15; 384:578220 Epub 2023 Oct 13
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  6. Pena LDM, Burrage LC, Enns GM, Esplin ED, Harding C, Mendell JR, Niu ZN, Scharfe C, Yu T, Koeberl DD, ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 Jun; 25 (6):100831 Epub 2023 Apr 09
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  7. Poskanzer SA, Pena LDM, Niu Z, ACMG Therapeutics Committee. Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG) ACMG Therapeutics Bulletin. 2023; 1(1):1-3.
  8. Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2023 Feb; 25 (2):100359
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  9. Nair MA, Niu Z, Madigan NN, Shin AY, Brault JS, Staff NP, Klein CJ. Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment. Front Neurol. 2023; 14:1251885 Epub 2023 Sept 22
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  10. Chompoopong P, Niu Z, Shouman K, Madigan NN, Sandroni P, Berini SE, Shin AY, Brault JS, Boon AJ, Laughlin RS, Thorland E, Mandrekar J, Klein CJ. Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP. Muscle Nerve. 2022 Oct; 66 (4):479-486 Epub 2022 Aug 11
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  11. Schmitt RE, Smith DY 4th, Cho DS, Kirkeby LA, Resch ZT, Liewluck T, Niu Z, Milone M, Doles JD. Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy. NPJ Regen Med. 2022 Sep 9; 7 (1):48 Epub 2022 Sept 09
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  12. Zimmerman Zuckerman E, Thompson JA, Schneider AR, Campion MB, Johns JJ, Stier TJ, Peterson LM, Ward AM, Blommel JH, Gnanaolivu RD, Lauer KP, Sivasankaran G, Balan J, Dasari S, Sakai Y, Marcou CA, Zheng G, Halling KC, Shen W, Viswanatha DS, Niu Z. Automation of hybridization and capture based next generation sequencing library preparation requires reduction of on-deck bead binding and heated wash temperatures. SLAS Technol. 2022 Jun; 27 (3):214-218 Epub 2021 Nov 26
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  13. Chompoopong P, Milone M, Niu Z, Cui G, Mer G, Liewluck T. A novel missense HNRNPA1 variant in the PY-NLS domain in a patient with late-onset distal myopathy. Neuromuscul Disord. 2022 Jun; 32 (6):521-526 Epub 2022 Mar 31
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  14. Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogne B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friethriksdottir R, Katrinardottir H, Sulem P, Stefansson K, Bjornsson HT, Mandelstam S, Morleo M, Mariani M, Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S, Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, Christodoulou J, Tan TY, TUDP Study Group//Broad Center for Mendelian Genomics. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Am J Hum Genet. 2022 Apr 7; 109 (4):601-617
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  15. Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Francisco-Velilla R, Embarc-Buh A, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB. Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Front Cell Dev Biol. 2022; 10:783762 Epub 2022 Feb 28
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  16. Johnson SA, Shouman K, Shelly S, Sandroni P, Berini SE, Dyck PJB, Hoffman EM, Mandrekar J, Niu Z, Lamb CJ, Low PA, Singer W, Mauermann ML, Mills J, Dubey D, Staff NP, Klein CJ. Small Fiber Neuropathy Incidence, Prevalence, Longitudinal Impairments, and Disability. Neurology. 2021 Nov 30; 97 (22):e2236-e2247 Epub 2021 Oct 27
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  17. Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J, UCLA Clinical Genomics Center, Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy. Am J Hum Genet. 2021 Jul 01; 108(7):1330-1341. Epub 2021 Jun 07.
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  18. Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2021 Mar; 23(3):498-507. Epub 2020 Nov 04.
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  19. Bi H, Hojo K, Watanabe M, Yee C, Maski K, Saba S, Graff-Radford J, Machulda MM, St Louis EK, Humes IS, Flanagan EP, Nicolau S, Jones DT, Patterson MC, Kotagal S, Raz Y, Niu Z, Li J, Klein CJ. Expanded genetic insight and clinical experience of DNMT1-complex disorder. Neurol Genet. 2020 Aug; 6 (4):e456 Epub 2020 June 12
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  20. Butz M, McDonald A, Lundquist PA, Meyer M, Harrington S, Kester S, Stein MI, Mistry NA, Zimmerman Zuckerman E, Niu Z, Schimmenti L, Hasadsri L, Boczek NJ. Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss. J Appl Lab Med. 2020 May 1; 5 (3):467-479
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  21. Karolak JA, Bacolla A, Liu Q, Lantz PE, Petty J, Trapane P, Panzer K, Totapally BR, Niu Z, Xiao R, Xie NG, Wu LR, Szafranski P, Zhang DY, Stankiewicz P. A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 2019 Nov; 179 (11):2272-2276 Epub 2019 Aug 22
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  22. Puffer RC, Spinner RJ, Bi H, Sharma R, Wang Y, Theis JD, McPhail ED, Poterucha JJ, Niu Z, Klein CJ. Fatal TTR amyloidosis with neuropathy from domino liver p.Val71Ala transplant. Neurol Genet. 2019 Oct; 5 (5):e351 Epub 2019 Aug 14
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  23. Liewluck T, Niu Z, Moore SA, Alsharabati M, Milone M. ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles. Neuromuscul Disord. 2019 May; 29 (5):388-391 Epub 2019 Mar 02
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  24. Kiessling P, Dowling E, Huang Y, Ho ML, Balakrishnan K, Weigel BJ, Highsmith WE Jr, Niu Z, Schimmenti LA. Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup. Cold Spring Harb Mol Case Stud. 2019 Apr; 5 (2) Epub 2019 Apr 01
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  25. 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 SN, Slavin TP, Lee S, Magoulas PL, Lewis AM, Emrick L, Lalani SR, Niu Z, Landsverk ML, Walkiewicz M, Person RE, Mei H, Rosenfeld JA, Yang Y, Antonellis A, Hou YM, Lin J, Zhang VW. Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes. Neurol Genet. 2019 Apr; 5 (2):e565 Epub 2019 Apr 18
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  26. Mauermann ML, Niu Z, Renaud DL, Kemppainen JL, Schultz MJ, Klein CJ. Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance. Neuromuscul Disord. 2019 Feb; 29(2):146-149. Epub 2018 Nov 22.
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  27. Madigan NN, Tracy JA, Litchy WJ, Niu Z, Chen C, Ling K, Milone M. A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy. Neurol Genet. 2018 Dec; 4 (6):e287 Epub 2018 Nov 07
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  28. Carter JM, Wu Y, Blessing MM, Folpe AL, Thorland EC, Spinner RJ, Jentoft ME, Wang C, Baheti S, Niu Z, Mauermann ML, Klein CJ. Recurrent Genomic Alterations in Soft Tissue Perineuriomas. Am J Surg Pathol. 2018 Dec; 42 (12):1708-1714
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  29. Boczek NJ, Lahner CA, Nguyen TM, Ferber MJ, Hasadsri L, Thorland EC, Niu Z, Gavrilova RH. Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2). Am J Med Genet A. 2018 Dec; 176(12):2798-2802. Epub 2018 Oct 22.
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  30. Martinez-Thompson JM, Niu Z, Tracy JA, Moore SA, Swenson A, Wieben ED, Milone M. Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21. Muscle Nerve. 2018 Apr; 57 (4):679-683 Epub 2017 Sept 30
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  31. Palmer EE, 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 HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S, Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM, DDD Study. 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. Mol Psychiatry. 2018 Feb; 23 (2):222-230 Epub 2016 Aug 23
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  32. Anandan C, Cipriani MA, Laughlin RS, Niu Z, Milone M. Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant. Eur J Neurol. 2018 Feb; 25 (2):417-419 Epub 2017 Dec 26
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  33. Niu Z, Pontifex CS, Berini S, Hamilton LE, Naddaf E, Wieben E, Aleff RA, Martens K, Gruber A, Engel AG, Pfeffer G, Milone M. Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features. Front Neurol. 2018; 9:147 Epub 2018 Mar 19
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  34. Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D. Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. Cold Spring Harb Mol Case Stud. 2017 Nov; 3 (6) Epub 2017 Nov 21
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  35. Laughlin RS, Niu Z, Wieben E, Milone M. RYR1 causing distal myopathy. Mol Genet Genomic Med. 2017 Nov; 5 (6):800-804 Epub 2017 Oct 04
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  36. Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN. Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases. Cold Spring Harb Mol Case Stud. 2017 May; 3 (3):a001743
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  37. Meng L, Donti T, Xia F, Niu Z, Al Shamsi A, Hertecant J, Al-Jasmi F, Gibson JB, Nagakura H, Zhang J, He W, Eng C, Yang Y, Elsea SH. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. Am J Med Genet A. 2017 Feb; 173: (2)460-470.
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  38. Leduc MS, Niu Z, Bi W, Zhu W, Miloslavskaya I, Chiang T, Streff H, Seavitt JR, Murray SA, Eng C, Chan A, Yang Y, Lalani SR. CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities. Am J Med Genet A. 2016 Aug; 170: (8)2206-11.
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  39. Coon EA, Ahlskog JE, Patterson MC, Niu Z, Milone M. Expanding Phenotypic Spectrum of NKX2-1-Related Disorders-Mitochondrial and Immunologic Dysfunction. JAMA Neurol. 2016 Feb; 73 (2):237-8
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  40. White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 Jan 6; 8 (1):3 Epub 2016 Jan 06
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  41. Niu Z, Goodyear SM, Avarbock MR, Brinster RL. Chemokine (C-X-C) Ligand 12 Facilitates Trafficking of Donor Spermatogonial Stem Cells. Stem Cells Int. 2016; 2016:5796305 Epub 2016 Jan 21
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  42. Posey JE, Rosenfeld JA, James RA, Bainbridge M, Niu Z, Wang X, Dhar S, Wiszniewski W, Akdemir ZH, Gambin T, Xia F, Person RE, Walkiewicz M, Shaw CA, Sutton VR, Beaudet AL, Muzny D, Eng CM, Yang Y, Gibbs RA, Lupski JR, Boerwinkle E, Plon SE. Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2015 Dec 3;
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  43. DeSanto C, D'Aco K, Araujo GC, Shannon N, Study D, Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. J Med Genet. 2015 Aug 11. [Epub ahead of print]
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  44. Zhou S, Hertel PM, Finegold MJ, Wang L, Kerkar N, Wang J, Wong LC, Plon SE, Sambrotta M, Foskett P, Niu Z, Thompson RJ, Knisely AS. Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology. 2015 Apr 29.
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  45. Yang Y, Muzny DM, 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, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 Nov 12; 312(18):1870-9.
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  46. Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 6; 95 (5):579-83 Epub 2014 Oct 16
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  47. Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, Chen LC, Schmitt ES, Niu Z, Erana R, Hunter JV, Graham BH, Wong LJ, Scaglia F. 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. Mol Genet Metab. 2014 Nov; 113(3):207-12. Epub 2014 Jun 30.
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  48. Vatta M, Niu Z, Lupski JR, Putnam P, Spoonamore KG, Fang P, Eng CM, Willis AS. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013 Dec; 161A(12):3182-6. Epub 2013 Aug 16.
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  49. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013 Oct 17; 369(16):1502-11. Epub 2013 Oct 02.
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  50. Berryer MH, Hamdan FF, Klitten LL, Moller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency. Hum Mutat. 2013 Feb; 34(2):385-94. Epub 2012 Dec 12.
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  51. Niu Z, Goodyear SM, Rao S, Wu X, Tobias JW, Avarbock MR, Brinster RL. MicroRNA-21 regulates the self-renewal of mouse spermatogonial stem cells. Proc Natl Acad Sci U S A. 2011 Aug 2; 108(31):12740-5. Epub 2011 Jul 18.
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  52. Schmidt JA, Abramowitz LK, Kubota H, Wu X, Niu Z, Avarbock MR, Tobias JW, Bartolomei MS, Brinster RL. In vivo and in vitro aging is detrimental to mouse spermatogonial stem cell function. Biol Reprod. 2011 Apr; 84(4):698-706. Epub 2010 Dec 29.
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  53. Li D, Niu Z, Yu W, Qian Y, Wang Q, Li Q, Yi Z, Luo J, Wu X, Wang Y, Schwartz RJ, Liu M. SMYD1, the myogenic activator, is a direct target of serum response factor and myogenin. Nucleic Acids Res. 2009 Nov; 37(21):7059-71.
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  54. Niu Z, Iyer D, Conway SJ, Martin JF, Ivey K, Srivastava D, Nordheim A, Schwartz RJ. Serum response factor orchestrates nascent sarcomerogenesis and silences the biomineralization gene program in the heart. Proc Natl Acad Sci U S A. 2008 Nov 18; 105(46):17824-9. Epub 2008 Nov 12.
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  55. Niu Z, Li A, Zhang SX, Schwartz RJ. Serum response factor micromanaging cardiogenesis. Curr Opin Cell Biol. 2007 Dec; 19(6):618-27. Epub 2007 Nov 26.
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  56. Liu Y, Asakura M, Inoue H, Nakamura T, Sano M, Niu Z, Chen M, Schwartz RJ, Schneider MD. Sox17 is essential for the specification of cardiac mesoderm in embryonic stem cells. Proc Natl Acad Sci U S A. 2007 Mar 6; 104(10):3859-64. Epub 2007 Feb 28.
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  57. Niu Z, Yu W, Zhang SX, Barron M, Belaguli NS, Schneider MD, Parmacek M, Nordheim A, Schwartz RJ. Conditional mutagenesis of the murine serum response factor gene blocks cardiogenesis and the transcription of downstream gene targets. J Biol Chem. 2005 Sep 16; 280(37):32531-8. Epub 2005 May 31.
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  58. Zhang D, Niu Z, Wan Q, Zhao BL. Stability and reaction of the dithiocarbamate-ferrous-NO complex in PMA-stimulated peritoneal macrophages. Research on Chemical Intermediates. 2003; 29:201-12.
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