Dr. Yun Li

Name Card

Main Affiliation
 
Staff Status
unigoe
 

1-45 of 45
 
The bibliographical data in your publication list are complete
You can correct existing data in the blue highlighted fields.To do this, please click on the coloured field. It is not possible to delete data here.
Fields that are not marked in colour (e. g. the authors) can be edited using the input form. To do so, click on the in front of the respective publication.
The bibliographic data in your publication list may be incomplete. You can
  • add any missing data in the fields marked in red or
  • correct existing data in the blue highlighted fields.
To do this, please click on the coloured field. It is not possible to delete data here.
Fields that are not marked in colour (e. g. the authors) can be edited using the input form. To do so, click on the in front of the respective publication.
Check/Uncheck all
  • 2022 | Journal Article | 
    ​ ​Schmidt J, Dreha-Kulaczewski S, Zafeiriou MP, Schreiber, Marie-Kristin, Wilken B, Funke R, et al. ​Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum​. ​​Frontiers in Cell and Developmental Biology. ​2022;​10​. ​doi:10.3389/fcell.2022.1025332. 
    ​Details  DOI  PMID  PMC 
  • 2022 | Journal Article | Research Paper | 
    ​ ​Bögershausen N, Krawczyk HE, Jamra RA, Lin S, Yigit G, Hüning I, et al. ​WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly​. ​​Human Mutation. ​2022;​43​(10):​​1454​-1471​. ​doi:10.1002/humu.24430. 
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article | Research Paper | 
    ​ ​Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, et al. ​Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies​. ​​Genetics in Medicine. ​2021;. ​doi:10.1038/s41436-021-01260-4. 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article
    ​ ​Neuhofer CM, Funke R, Wilken B, Knaus A, Altmüller J, Nürnberg P, et al. ​A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia​. ​​Molecular Syndromology. ​2020;​11​(1):​​30​-37​. ​doi:10.1159/000505797. 
    ​Details  DOI 
  • 2020 | Journal Article | Research Paper
    ​ ​Hanses U, Kleinsorge M, Roos L, Yigit G, Li Y, Barbarics B, et al. ​Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy​. ​​Circulation. ​2020;​142​(11):​​1059​-1076​. ​doi:10.1161/CIRCULATIONAHA.119.044794. 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Schröder S, Li Y, Yigit G, Altmüller J, Bader I, Bevot A, et al. ​Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia​. ​​Genetics in Medicine. ​2020;​23​(2):​​341​-351​. ​doi:10.1038/s41436-020-00979-w. 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Ganapathi M, Argyriou L, Martínez-Azorín F, Morlot S, Yigit G, Lee TM, et al. ​Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis​. ​​Human Genetics. ​2020;​139​(11):​​1443​-1454​. ​doi:10.1007/s00439-020-02188-6. 
    ​Details  DOI  PMID  PMC 
  • 2019 | Journal Article | Research Paper
    ​ ​Moosa S, Yamamoto GL, Garbes L, Keupp K, Beleza-Meireles A, Moreno CA, et al. ​Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta​. ​​The American Journal of Human Genetics. ​2019;​105​(4):​​836​-843​. ​doi:10.1016/j.ajhg.2019.08.008. 
    ​Details  DOI 
  • 2019 | Journal Article
    ​ ​Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, et al. ​Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome​. ​​Journal of Medical Genetics. ​2019;​56​(4):​​261​-264​. ​doi:10.1136/jmedgenet-2018-105470. 
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​Nagy V, Hollstein R, Pai, Tsung-Pin, Herde MK, Buphamalai P, Moeseneder P, et al. ​HACE1 deficiency leads to structural and functional neurodevelopmental defects​. ​​Neurology Genetics. ​2019;​5​(3):​​e330​. ​doi:10.1212/NXG.0000000000000330. 
    ​Details  DOI 
  • 2019 | Journal Article | 
    ​ ​Kalasova I, Hanzlikova H, Gupta N, Li Y, Altmüller J, Reynolds JJ, et al. ​Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ​. ​​Neurology Genetics. ​2019;​5​(2):​​e320​. ​doi:10.1212/NXG.0000000000000320. 
    ​Details  DOI 
  • 2018 | Journal Article
    ​ ​Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, et al. ​Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome​. ​​The American Journal of Human Genetics. ​2018;​102​(3):​​468​-479​. ​doi:10.1016/j.ajhg.2018.01.014. 
    ​Details  DOI 
  • 2018 | Journal Article | Research Paper
    ​ ​Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos C, Carrero D, et al. ​Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome​. ​​Journal of Medical Genetics. ​2018;​55​(12):​​837​-846​. ​doi:10.1136/jmedgenet-2018-105528. 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​Bramswig NC, Lüdecke, Hermann-Josef, Hamdan FF, Altmüller J, Beleggia F, Elcioglu NH, et al. ​Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability​. ​​Human Genetics. ​2017;​136​(7):​​821​-834​. ​doi:10.1007/s00439-017-1795-6. 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Moosa S, Altmüller J, Lyngbye T, Christensen R, Li Y, Nürnberg P, et al. ​Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome​. ​​Molecular Genetics & Genomic Medicine. ​2017;​5​(5):​​580​-584​. ​doi:10.1002/mgg3.287. 
    ​Details  DOI 
  • 2017 | Journal Article
    ​ ​Moosa S, Loeys B, Altmüller J, Mortier G, Nürnberg P, Li Y, et al. ​Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum​. ​​Clinical Genetics. ​2017;​92​(3):​​342​-343​. ​doi:10.1111/cge.12990. 
    ​Details  DOI 
  • 2017 | Journal Article | Research Paper | 
    ​ ​Borchert T, Hübscher D, Guessoum CI, Lam, Tuan-Dinh D., Ghadri JR, Schellinger IN, et al. ​Catecholamine-Dependent β-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy​. ​​Journal of the American College of Cardiology. ​2017;​70​(8):​​975​-991​. ​doi:10.1016/j.jacc.2017.06.061. 
    ​Details  DOI  PMID  PMC 
  • 2016 | Journal Article
    ​ ​Moosa S, Böhrer-Rabel H, Altmüller J, Beleggia F, Nürnberg P, Li Y, et al. ​Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism​. ​​American Journal of Medical Genetics Part A. ​2016;​173​(1):​​264​-267​. ​doi:10.1002/ajmg.a.37999. 
    ​Details  DOI 
  • 2016 | Journal Article | Research Paper
    ​ ​Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, et al. ​Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2​. ​​Human Mutation. ​2016;​37​(9):​​847​-864​. ​doi:10.1002/humu.23026. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2016 | Journal Article
    ​ ​Bögershausen N, Altunoglu U, Beleggia F, Yigit G, Kayserili H, Nürnberg P, et al. ​An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity​. ​​American Journal of Medical Genetics. ​2016;​170​(12):​​3282​-3288​. ​doi:10.1002/ajmg.a.37931. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article
    ​ ​Yigit G, Brown KE, Kayserili H, Pohl E, Caliebe A, Zahnleiter D, et al. ​Mutations in CDK5RAP2 cause Seckel syndrome​. ​​Molecular Genetics & Genomic Medicine. ​2015;​3​(5):​​467​-480​. ​doi:10.1002/mgg3.158. 
    ​Details  DOI 
  • 2015 | Journal Article | Research Paper
    ​ ​Beleggia F, Li Y, Fan J, Elcioglu NH, Toker E, Wieland T, et al. ​CRIM1 haploinsufficiency causes defects in eye development in human and mouse​. ​​Human Molecular Genetics. ​2015;​24​(8):​​2267​-2273​. ​doi:10.1093/hmg/ddu744. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2015 | Journal Article | Research Paper
    ​ ​Boegershausen N, Tsai, I-Chun, Pohl E, Kiper POS, Beleggia F, Percin EF, et al. ​RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome​. ​​Journal of Clinical Investigation. ​2015;​125​(9):​​3585​-3599​. ​doi:10.1172/JCI80102. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article
    ​ ​Keupp K, Li Y, Vargel I, Hoischen A, Richardson R, Neveling K, et al. ​Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis​. ​​Molecular Genetics & Genomic Medicine. ​2013;​1​(4):​​223​-237​. ​doi:10.1002/mgg3.28. 
    ​Details  DOI 
  • 2013 | Journal Article | Research Paper
    ​ ​Reintjes N, Li Y, Becker A, Rohmann E, Schmutzler R, Wollnik B. ​Activating Somatic FGFR2 Mutations in Breast Cancer​. ​​PLoS ONE. ​2013;​8​(3). ​doi:10.1371/journal.pone.0060264. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Boegershausen N, Shahrzad N, Chong JX, von Kleist-Retzow, Jürgen-Christoph, Stanga D, Li Y, et al. ​Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability​. ​​American journal of human genetics. ​2013;​93​(1):​​181​-190​. ​doi:10.1016/j.ajhg.2013.05.028. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Kariminejad A, Stollfuss B, Li Y, Boegershausen N, Boss K, Hennekam RCM, et al. ​Severe Cenani-Lenz Syndrome Caused by Loss of LRP4 Function​. ​​American Journal of Medical Genetics. ​2013;​161A​(6):​​1475​-1479​. ​doi:10.1002/ajmg.a.35920. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Wieczorek D, Boegershausen N, Beleggia F, Steiner-Haldenstaett S, Pohl E, Li Y, et al. ​A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling​. ​​Human Molecular Genetics. ​2013;​22​(25):​​5121​-5135​. ​doi:10.1093/hmg/ddt366. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article | Research Paper
    ​ ​Dimopoulou A, Fischer B, Gardeitchik T, Schroeter P, Kayserili H, Schlack C, et al. ​Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa​. ​​Molecular Genetics and Metabolism. ​2013;​110​(3):​​352​-361​. ​doi:10.1016/j.ymgme.2013.08.009. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper | 
    ​ ​Yüksel Apak M, Boegershausen N, Pawlik B, Li Y, Apak S, Uyguner O, et al. ​A large duplication involving the IHH locus mimics acrocallosal syndrome​. ​​European Journal of Human Genetics. ​2012;​20​(6):​​639​-644​. ​doi:10.1038/ejhg.2011.250. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper
    ​ ​Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, et al. ​Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish​. ​​American journal of human genetics. ​2012;​90​(4):​​661​-674​. ​doi:10.1016/j.ajhg.2012.02.026. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2012 | Journal Article | Research Paper
    ​ ​von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, et al. ​A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss​. ​​American journal of human genetics. ​2012;​91​(5):​​919​-927​. ​doi:10.1016/j.ajhg.2012.09.002. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, et al. ​Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta​. ​​American journal of human genetics. ​2011;​88​(3):​​362​-371​. ​doi:10.1016/j.ajhg.2011.01.015. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, et al. ​CEP152 is a genome maintenance protein disrupted in Seckel syndrome​. ​​Nature Genetics. ​2011;​43​(1):​​23​-26​. ​doi:10.1038/ng.725. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2011 | Journal Article | Research Paper
    ​ ​Li Y, Boegershausen N, Alanay Y, Kiper POS, Plume N, Keupp K, et al. ​A mutation screen in patients with Kabuki syndrome​. ​​Human Genetics. ​2011;​130​(6):​​715​-724​. ​doi:10.1007/s00439-011-1004-y. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Research Paper
    ​ ​Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, et al. ​Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling​. ​​American journal of human genetics. ​2010;​87​(6):​​757​-767​. ​doi:10.1016/j.ajhg.2010.10.003. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Research Paper
    ​ ​Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJW, et al. ​A Specific Mutation in the Distant Sonic Hedgehog (SHH) Cis-Regulator (ZRS) Causes Werner Mesomelic Syndrome (WMS) While Complete ZRS Duplications Underlie Haas Type Polysyndactyly and Preaxial Polydactyly (PPD) With or Without Triphalangeal Thumb​. ​​Human Mutation. ​2010;​31​(1):​​81​-89​. ​doi:10.1002/humu.21142. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Research Paper
    ​ ​Li Y, Pawlik B, Elcioglu NH, Aglan M, Kayserili H, Yigit G, et al. ​LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome​. ​​American journal of human genetics. ​2010;​86​(5):​​696​-706​. ​doi:10.1016/j.ajhg.2010.03.004. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Research Paper
    ​ ​Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, et al. ​Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss​. ​​American journal of human genetics. ​2010;​86​(3):​​479​-484​. ​doi:10.1016/j.ajhg.2010.02.003. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2010 | Journal Article | Letter Note
    ​ ​Li Y, Pabst S, Kubisch C, Grohe C, Wollnik B. ​First independent replication study confirms the strong genetic association of ANXA11 with sarcoidosis​. ​​Thorax. ​2010;​65​(10):​​939​-940​. ​doi:10.1136/thx.2010.138743. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. ​Mutations in PYCR1 cause cutis laxa with progeroid features​. ​​Nature Genetics. ​2009;​41​(9):​​1016​-U88​. ​doi:10.1038/ng.413. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2009 | Journal Article | Research Paper
    ​ ​Durmaz B, Wollnik B, Cogulu O, Li Y, Tekgul H, Hazan F, et al. ​Pontocerebellar hypoplasia type III (CLAM): Extended phenotype and novel molecular findings​. ​​Journal of Neurology. ​2009;​256​(3):​​416​-419​. ​doi:10.1007/s00415-009-0094-0. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Letter Note
    ​ ​Boulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, Nürnberg G, et al. ​A Novel Mutation in the Espin Gene Causes Autosomal Recessive Nonsyndromic Hearing Loss But No Apparent Vestibular Dysfunction in a Moroccan Family​. ​​American Journal of Medical Genetics. ​2008;​146A​(23):​​3086​-3089​. ​doi:10.1002/ajmg.a.32525. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2008 | Journal Article | Research Paper
    ​ ​Collin RWJ, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, et al. ​Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35​. ​​American journal of human genetics. ​2008;​82​(1):​​125​-138​. ​doi:10.1016/j.ajhg.2007.09.008. 
    ​Details  DOI  PMID  PMC  WoS 
  • 2007 | Journal Article | Research Paper
    ​ ​Boulouiz R, Li Y, Abidi O, Bolz HJ, Chafik A, Kubisch C, et al. ​Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C​. ​​Molecular vision. ​2007;​13​(204-08):​​1862​-1865​. ​
    ​Details  PMID  PMC  WoS 

Publication List

All Articles (Book & Journal) Articles & Preprints Papers (Journal & Conference)

Type

Subtype

Date issued

Author

Project

Peer-Reviewed

Organization

Language

Fulltext

Options

Citation Style

GRO View APA Chicago MLA Vancouver
https://publications.goettingen-research-online.de URI: /cris/rp/rp02396
ID: 0000000
PREF: vancouver TOKEN:

0

Sort

Issue Date
ASC DESC
Title
ASC DESC

Embed

JavaScript
Link

Export

Activate Export Mode
Deactivate Export Mode

Select some or all items (max. 800 for CSV/Excel) from the publications list, then choose an export format below.