Recent Publications


  • Barboni MTS, Joachimsthaler A, Roux MJ, Nagy ZZ, Ventura DF, Rendon A, Kremers J, Vaillend C (2022) Retinal dystrophins and the retinopathy of Duchenne muscular dystrophy. Prog Retin Eye Res. 2022 Nov 17:101137. doi: 1016/j.preteyeres.2022.101137. Online ahead of print. PMID: 36404230
  • Stallwitz N, Joachimsthaler A and Kremers J (2022) Luminance white noise electroretinograms (wnERGs) in mice. Neurosci. 2022 Dec 09;16:1075126. doi: 10.3389/fnins.2022.1075126
  • Davison A, Gierke K, Brandstätter JH, Babai N (2022) Synaptic vesicle release during ribbon synapse formation of cone photoreceptors. Front Cell Neurosci. 2022 Nov 4;16:1022419. doi: 3389/fncel.2022.1022419. eCollection 2022. PMID: 36406751
  • Pircher T, Pircher B, Feigenspan A (2022) A novel machine learning-based approach for the detection and analysis of spontaneous synaptic currents. PLoS One. 2022 Sep 19;17(9):e0273501. doi: 1371/journal.pone.0273501. eCollection 2022. PMID: 36121856
  • Pieger K, Schmitt V, Gauer C, Gießl N, Prots I, Winner B, Winkler J, Brandstätter JH, Xiang W (2022) Translocation of Distinct Alpha Synuclein Species from the Nucleus to Neuronal Processes during Neuronal Differentiation. Biomolecules. 2022 Aug 12;12(8):1108. doi: 10.3390/biom12081108. PMID: 36009004
  • Boltz F, Enders M, Feigenspan A, Kirchner P, Ekici A, Kuerten S (2022) Nimodipine Exerts Beneficial Effects on the Rat Oligodendrocyte Cell Line OLN-93. Brain Sci. 2022 Apr;12(4):476.doi: 3390/brainsci12040476. PMID: 35448007
  • Zuerl M, Stoll P, Brehm I, Raab R, Zanca D, Kabri S, Happold J, Nille H, Prechtel K, Wuensch S, Krause M, Seegerer S, von Fersen L, Eskofier B (2022) Automated Video-Based Analysis Framework for Behavior Monitoring of Individual Animals in Zoos Using Deep Learning—A Study on Polar Bears. Animals (Basel). 2022 Mar 10;12(6):692. doi: 10.3390/ani12060692. PMID: 35327089
  • Davison A, Lux UT, Brandstätter JH, Babai N (2022) T-type Ca2+ channels boost neurotransmission in mammalian cone photoreceptors. J Neurosci. 2022 Jul 8;JN-RM-1878-21. doi: 1523/JNEUROSCI.1878-21.2022. PMID: 35803735
  • Rama R, Derlig K, Vießmann N, Gossmann R, Oriold F, Gießl A, Brandstätter JH, Enz R, Dahlhaus R (2022) Simiate and the focal adhesion kinase FAK1 function together in the regulation of dendritogenesis. Scientific Rep. 2022 Jul 4;12(1):11274. doi: 10.1038/s41598-022-14460-y. PMID: 35787638
  • Davison A, Gierke K, Brandstätter JH, Babai N (2022) Functional and Structural Development of Mouse Cone Photoreceptor Ribbon Synapses. Invest Ophthalmol Vis Sci. 2022 Mar 2;63(3):21. doi: 1167/iovs.63.3.21. PMID: 35319739
  • Kalinichenko LS, Mühle C, Jia T, Anderheiden F, Datz M, Eberle AL, Eulenburg V, Granzow J, Hofer M, Hohenschild J, Huber SE, Kämpf S, Kogias G, Lacatusu L, Lugmair C, Taku SM, Meixner D, Sembritzki NK, Praetner M, Rhein C, Sauer C, Scholz J, Ulrich F, Valenta F, Weigand E, Werner M, Tay N, Mc Veigh CJ, Haase J, Wang AL, Abdel-Hafiz L, Huston JP, Smaga I, Frankowska M, Filip M, Lourdusamy A, Kirchner P, Ekici AB, Marx LM, Suresh NP, Frischknecht R, Fejtova A, Saied EM, Arenz C, Bozec A, Wank I, Kreitz S, Hess A, Bäuerle T, Ledesma MD, Mitroi DN, Miranda AM, Oliveira TG, Lenz B, Schumann G, Kornhuber J, Müller CP (2022) Adult alcohol drinking and emotional tone are mediated by neutral sphingomyelinase during development in males. Cereb Cortex. 2022 Mar 16:bhac106. doi: 1093/cercor/bhac106. Online ahead of print. PMID: 35296883


  • Kalinichenko LS, Mühle C, Jia T, Anderheiden F, Datz M, Eberle AL, Eulenburg V, Granzow J, Hofer M, Hohenschild J, Huber SE, Kämpf S, Kogias G, Lacatusu L, Lugmair C, Taku S, Meixner D, Tesch N, Praetner M, Rhein C, Sauer C, Scholz J, Ulrich F, Valenta F, Weigand E, Werner M, Tay N, Mc Veigh CJ, Haase J, Wang AL, Abdel-Hafiz L, Huston JP, Smaga I, Frankowska M, Filip M, Lourdusamy A, Kirchner P, Ekici AB, Marx LM, Suresh NP, Frischknecht R, Fejtova A, Saied EM, Arenz C, Bozec A, Wank I, Kreitz S, Hess A, Bäuerle T, Ledesma MD, Mitroi DN, Miranda AM, Oliveira TG, Gulbins E, Lenz B, Schumann G, Kornhuber J, Müller CP (2021) Neutral sphingomyelinase mediates the co-morbidity trias of alcohol abuse, major depression and bone defects. Mol Psychiatry. 2021 Sep 28. doi: 10.1038/s41380-021-01304-w. Online ahead of print. PMID: 34584229
  • Lux UT, Ehrenberg J, Joachimsthaler A, Atorf J, Pircher B, Reim K, Kremers J, Gießl A, Brandstätter JH (2021) Cell types and synapses expressing the SNARE complex regulating proteins complexin 1 and complexin 2 in mammalian retina. Int J Mol Sci. 2021 Jul 29;22(15):8131. doi: 3390/ijms22158131. PMID: 34360929
  • Zanetti L, Kilicarslan I, Netzer M, Babai N, Seitter H, Koschak A (2021) Function of cone and cone-related pathways in CaV4 IT mice. Sci Rep. 2021 Feb 1;11(1):2732. doi: 10.1038/s41598-021-82210-7. PMID: 33526839
  • El-Tabbal M, Niekisch H, Henschke JU, Budinger E, Frischknecht R, Deliano M, Happel MFK (2021) The  extracellular matrix regulates cortical layer dynamics and cross-columnar frequency integration in the auditory cortex. Commun Biol. 2021 Mar 10;4(1):322. doi: 10.1038/s42003-021-01837-4. PMID: 33692502
  • Barboni MTS, Liber AMP, Joachimsthaler A, Saoudi A, Goyenvalle A, Rendon A, Roger JE, Ventura DF, Kremers J, Vaillend C (2021) Altered visual processing in the mdx52 mouse model of Duchenne muscular dystrophy. Neurobiol Dis. 2021 Feb 5;152:105288. doi: 10.1016/j.nbd.2021.105288. Online ahead of print. PMID: 33556541
  • Pircher T, Pircher B, Schlücker E, Feigenspan A (2021) The structure dilemma in biological and artificial neural networks. Sci Rep. 2021 Mar 10;11(1):5621. doi: 1038/s41598-021-84813-6. PMID: 33692408
  • Ryl M, Urbasik A, Gierke K, Babai N, Joachimsthaler A, Feigenspan A, Frischknecht R, Stallwitz N, Fejtová A, Kremers J, von Wittgenstein J, Brandstätter JH (2021) Genetic disruption of bassoon in two mutant mouse lines causes divergent retinal phenotypes. FASEB J. 2021 May;35(5):e21520. doi: 1096/fj.202001962R. PMID: 33811381


  • Mitlöhner J, Kaushik R, Niekisch H, Blondiaux A, Gee CE, Happel MFK, Gundelfinger E, Dityatev A, Frischknecht R, Seidenbecher C (2020) Dopamine Receptor Activation Modulates the Integrity of the Perisynaptic Extracellular Matrix at Excitatory Synapses. Cells. 2020 Jan 21;9(2):260. doi: 3390/cells9020260. PMID: 31972963
  • Barboni MTS, Vaillend C, Joachimsthaler A, Liber AMP, Khabou H, Roux MJ, Vacca O, Vignaud L, Dalkara D, Guillonneau X, Ventura DF, Rendon A, Kremers J (2020) Rescue of Defective Electroretinographic Responses in Dp71-Null Mice With AAV-Mediated Reexpression of Dp71. Invest Ophtalmol Vis Sci. 2020 Feb 7;61(2):11. doi: 1167/iovs.61.2.11. PMID: 32049345
  • von Wittgenstein J*, Zheng F, Wittmann MT, Balta EA, Ferrazzi F, Schäffner I, Häberle BM, Valero-Aracama MJ, Koehl M, Miranda CJ, Kaspar BK, Ekici AB, Reis A, Abrous DN, Alzheimer C, Lie DC*. (2020) Sox11 is an Activity-Regulated Gene with Dentate-Gyrus-Specific Expression Upon General Neural Activation. Cereb Cortex. 2020 May 18;30(6):3731-3743. doi: 1093/cercor/bhz338. PMID: 32080705
  • Feigenspan A, Ohs A, von Wittgenstein J, Brandstätter JH, Babai N (2020) Analysis of tetrodotoxin-sensitive sodium and low voltage-activated calcium channels in developing mouse retinal horizontal cells. Exp Eye Res. 2020 Jun;195:108028. doi: 1016/j.exer.2020.108028. Epub 2020 Apr 8. PMID: 32277973
  • Bikbaev A, Ciuraszkiewicz-Wojciech A, Heck J, Klatt O, Freund R, Mitlöhner J, Enrile Lacalle S, Sun M, Repetto D, Frischknecht R, Ablinger C, Rohlmann A, Missler M, Obermair GJ, Di Biase V, Heine M (2020) Auxiliary α2δ1 and α2δ3 Subunits of Calcium Channels Drive Excitatory and Inhibitory Neuronal Network Development. J Neurosci. 2020 Jun 17;40(25):4824-4841. doi: 1523/JNEUROSCI.1707-19.2020. Epub 2020 May 15. PMID: 32414783
  • Montenegro-Venegas C, Fienko S, Anni D, Pina-Fernández E, Frischknecht R, Fejtova A (2020) Bassoon inhibits proteasome activity via interaction with PSMB4. Cell Mol Life Sci. 2020 Jul 10. doi: 1007/s00018-020-03590-z. Online ahead of print. PMID: 32651614
  • Korn MA, Schmitt H, Angermüller S, Chambers D, Seeling M, Lux UT, Brey S, Royzman D, Brückner C, Popp V, Percivalle E, Bäuerle T, Zinser E, Winkler TH, Steinkasserer A, Nimmerjahn F, Nitschke L (2020) Siglec-15 on Osteoclasts Is Crucial for Bone Erosion in Serum-Transfer Arthritis. J Immunol. 2020 Oct 5;ji2000472. doi: 10.4049/jimmunol.2000472. Online ahead of print. PMID: 33020147
  • Gierke K, von Wittgenstein J, Hemmerlein M, Atorf J, Joachimsthaler A, Kremers J, Cooper BH, Varoqueaux F, Regus-Leidig H, Brandstätter JH (2020) Heterogeneous Presynaptic Distribution of Munc13 Isoforms at Retinal Synapses and Identification of an Unconventional Bipolar Cell Type with Dual Expression of Munc13 Isoforms: A Study Using Munc13-EXFP Knock-in Mice. Int J Mol Sci. 2020 Oct 22;21(21):E7848. doi: 10.3390/ijms21217848. PMID: 33105896
  • Babai N, von Wittgenstein J, Gierke K, Brandstätter JH, Feigenspan A (2020) The absence of functional bassoon at cone photoreceptor ribbon synapses affects signal transmission at Off cone bipolar cell contacts in mouse retina. Acta Physiol (Oxf). 2020 Nov 22:e13584. doi: 1111/apha.13584. Online ahead of print. PMID: 33222426


  • Müller TM, Gierke K, Joachimsthaler A, Sticht H, Izsvák Z, Hamra FK, Fejtová A, Ackermann F, Garner CC, Kremers J, Brandstätter JH*, Regus-Leidig H* (2019) A multiple Piccolino-RIBEYE interaction supports plate-shaped synaptic ribbons in retinal neurons. J Neurosci. 2019 Apr 3;39:2606-2619. doi: 1523/JNEUROSCI.2038-18.2019. (*shared corresponding authors). PMID:  30696732
  • Joachimsthaler A & Kremers J (2019) Mouse Cones Adapt Fast, Rods Slowly In Vivo. Invest Ophthalmol Vis Sci. 2019 May 1;60(6): 2152-2564. doi: 1167/iovs.18-26356. PMID: 31100107
  • Taylor RW, Mahmoodabadi RG, Rauschenberger V, Giessl A, Schambony A, Sandoghdar V (2019) Interferometric scattering microscopy reveals microsecond nanoscopic protein motion on a live cell membrane. Nature Photonics. 2019 Apr 15; doi: 1038/s41566-019-0414-6
  • Niekisch H, Steinhardt J, Berghäuser J, Bertazzoni S, Kaschinski E, Kasper J, Kisse M, Mitlöhner J, Singh JB, Weber J, Frischknecht R, Happel MFK (2019) Learning induces transient upregulation of brevican in auditory cortex during consolidation of long-term memories. J Neurosci. 2019 Sep 4;39(36):7049-7060. doi: 1523/JNEUROSCI.2499-18.2019. Epub 2019 Jun 19. (*shared corresponding authors). PMID: 31217331
  • Falk N, Joachimsthaler A, Kessler K, Lux UT, Noegel AA, Kremers J, Brandstätter JH, Gießl A (2019) Lack of a Retinal Phenotype in a Syne-2/Nesprin-2 Knockout Mouse Model. 2019 Oct 11;8(10). doi: 10.3390/cells8101238. PMID: 31614616
  • Klotz L, Wendler O, Frischknecht R, Shigemoto R, Schulze H, Enz R (2019) Localization of group II and III metabotropic glutamate receptors at pre- and postsynaptic sites of inner hair cell ribbon synapses. FASEB J. 2019 Dec;33(12):13734-13746. doi: 1096/fj.201901543R. Epub 2019 Oct 4. PMID: 31585509
  • Barro-Soria R, Caicedo A, Jägle H, Merkel L, Zhao N, Knop G, Gierke K, Dannullis A, Castrop H, Brandstätter JH, Kirchhoff F, Feigenspan A, Strauß O (2019) Angiotensin-receptor associated protein modulates synaptic Ca2+ signals in photoreceptor and mossy fiber cells. Sci Rep. 2019 Dec 23;9(1):19622. doi: 1038/s41598-019-55380-8. PMID: 31873081
  • Hermann M, Reumann R, Schostak K, Kement D, Gelderblom M, Bernreuther C, Frischknecht R, Schipanski A, Marik S, Krasemann S, Sepulveda-Falla D, Schweizer M, Magnus T, Glatzel M, Galliciotti G (2019) Deficits in developmental neurogenesis and dendritic spine maturation in mice lacking the serine protease inhibitor neuroserpin. Mol Cell Neurosci. 2020 Jan;102:103420. doi: 1016/j.mcn.2019.103420. Epub 2019 Dec 2. PMID: 31805346
  • Babai N, Gierke K, Müller T, Regus-Leidig H, Brandstätter JH, Feigenspan A (2019) Signal transmission at invaginating cone photoreceptor synaptic contacts following deletion of the presynaptic cytomatrix protein Bassoon in mouse retina. Acta Physiol (Oxf). 2019 Jun;226(2):e13241. doi: 10.1111/apha.13241. Epub 2019 Jan 12. PMID: 30554473


  • Trollmann R, Mühlberger T, Richter M, Boie G, Feigenspan A, Brackmann F, Jung S (2018) Differential regulation of angiogenesis in the developing mouse brain in response to exogenous activation of the hypoxia-inducible transcription factor system. Brain Res. 2018 Jun 1;1688:91-102. doi: 1016/j.brainres.2018.03.012. Epub 2018 Mar 13. PMID: 29548688
  • Pandya NJ, Seeger C, Babai N, Gonzalez-Lozano MA, Mack V, Lodder JC, Gouwenberg Y, Mansvelder HD, Danielson UH, Li KW, Heine M, Spijker S, Frischknecht R, Smit AB (2018) Noelin1 Affects Lateral Mobility of Synaptic AMPA Receptors. Cell Rep. 2018 Jul 31;24(5):1218-1230. doi: 1016/j.celrep.2018.06.102. PMID: 30067977
  • Falk N, Kessler K, Schramm SF, Boldt K, Becirovic E, Michalakis S, Regus-Leidig H, Noegel AA, Ueffing M, Thiel CT, Roepman R, Brandstätter JH, Gießl A (2018) ) Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis. J Cell Sci. 2018 Aug 17;131(16):jcs218487. doi: 1242/jcs.218487. PMID: 30054381
  • Eulenburg V, Knop G, Sedmak T, Schuster S, Hauf K, Schneider J, Feigenspan A, Joachimsthaler A, Brandstätter JH (2018) GlyT1 determines the glycinergic phenotype of amacrine cells in the mouse retina. Brain Struct Funct. 2018 Sep;223(7):3251-3266. doi: 1007/s00429-018-1684-3. Epub 2018 May 28. PMID: 2980828


  • Tsai TI, Joachimsthaler A, Kremers J (2017) Mesopic and photopic rod and cone photoreceptor-driven visual processes in mice with long-wavelength-shifted cone pigments. Invest Opththal Vis Sci. 2017 Oct 1;58(12):5177-5187. doi: 1167/iovs.17-22553. PMID: 29049717
  • Feigenspan A, Babai NZ (2017) Preparation of horizontal slices of adult mouse retina for electrophysiological studies. J Vis Exp. 2017 Jan 27;(119):55173. doi: 3791/55173. PMID: 28190066
  • Kurtenbach S, Gießl A, Strömberg S, Kremers J, Atorf J, Rasche S, Neuhaus EM, Hervé D, Brandstätter JH, Asan E, Hatt H, Kilimann MW (2017) The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia. Sci Rep. 2017 Aug 16;7(1):8409. doi: 1038/s41598-017-08543-4. PMID: 28814779
  • Van Hook MJ, Babai N, Zurawski Z, Yim YY, Hamm HE, Thoreson WB (2017) A Presynaptic Group III mGluR Recruits Gβγ/SNARE Interactions to Inhibit Synaptic Transmission by Cone Photoreceptors in the Vertebrate Retina. J Neurosci. 2017 Apr 26;37(17):4618-4634. doi: 1523/JNEUROSCI.2948-16.2017. Epub 2017 Mar 31. PMID: 28363980
  • Schweitzer B, Singh J, Fejtova A, Groc L, Heine M, Frischknecht R (2017) Hyaluronic acid based extracellular matrix regulates surface expression of GluN2B containing NMDA receptors. Sci Rep. 2017 Sep 8;7(1):10991. doi: 1038/s41598-017-07003-3. PMID: 28887453
  • Löhner M, Babai N, Müller T, Gierke K, Altorf J, Joachimsthaler A, Peukert A, Martens H, Feigenspan A, Kremers J, Schoch S, Brandstätter JH, Regus-Leidig H (2017) Analysis of RIM expression and function at mouse photoreceptor ribbbon synapses. J Neurosci. 2017 Aug 16;37(33):7848-7863. doi: 1523/JNEUROSCI.2795-16.2017. Epub 2017 Jul 12. PMID: 28701482
  • Böhm S, Riedmayr LM, Phuong Nguyen ONP, Gießl A, Liebscher T, Butz ES, Schön C, Michalakis S, Wahl-Schott C, Biel M, Becirovic E (2017) Peripherin-2 and Rom-1 have opposing effects on rod outer segment targeting of retinitis pigmentosa-linked peripherin-2 mutants. Sci Rep. 2017 May 24;7(1):2321. doi: 1038/s41598-017-02514-5. PMID: 28539581
  • Joachimsthaler A, Tsai TI, Kremers J (2017) Electrophysiological Studies on The Dynamics of Luminance Adaptation in the Mouse Retina. Vision (Basel). 2017 Oct 17;1(4):23. doi: 3390/vision1040023. PMID: 31740648


  • Kochubey O, Babai N, Schneggenburger R (2016) A Synaptotagmin Isoform Switch during the Development of an Identified CNS Synapse. Neuron. 2016 Jun 1;90(5):984-99. doi: 1016/j.neuron.2016.04.038. Epub 2016 May 19. PMID: 27210552
  • Babai N, Sendelbeck A, Regus-Leidig H, Fuchs M, Mertins J, Reim K, Brose N, Feigenspan A, Brandstätter JH (2016) Functional roles of Complexin 3 and Complexin 4 at mouse photoreceptor ribbon synapses. J Neurosci. 2016 Jun 22;36(25):6651-67. doi: 10.1523/JNEUROSCI.4335-15.2016. PMID: 27335398
  • Derlig K, Gießl A, Brandstätter JH, Enz R, Dahlhaus R (2016) Studying protein function and the role of altered protein expression by antibody interference and three-dimensional reconstructions. J Vis Exp. 2016 Apr 21;(110):53049. doi: 3791/53049. PMID: 27167171. [Article and Video]
  • Nguyen ON, Böhm S, Gießl A, Butz ES, Wolfrum U, Brandstätter JH, Wahl-Schott C, Biel M, Becirovic E (2016) Peripherin-2 differentially interacts with cone opsins in outer segments of cone photoreceptors. Hum Mol Genet. 2016 Jun 15;25(12):2367-2377. doi: 1093/hmg/ddw103. Epub 2016 Mar 30. PMID: 27033727


  • Gotthardt K, Lokaj M, Koerner C, Falk N, Gießl A, Wittinghofer A (2015) A G-protein activation cascade from Arl13B to Arl3 and implications for ciliary targeting of lipidated proteins. eLife. 2015 Nov 9;4:e11859. doi: 7554/eLife.11859. PMID: 26551564
  • Falk N, Lösl M, Schröder N, Gießl A (2015) Specialized Cilia in Mammalian Sensory Systems. Cells. 2015 Sep 11;4(3):500-19. doi: 3390/cells4030500. PMID: 26378583. [Article] [Special Issue Cilia and Flagella]
  • Zebrowski DC, Vergarajauregui S, Wu CC, Piatkowski T, Becker R, Leone M, Hirth S, Ricciardi F, Falk N, Gießl A, Just S, Braun T, Weidinger G, Engel FB (2015) Developmental alterations in centrosome integrity contribute to the post-mitotic state of mammalian cardiomyocytes. eLife 4. 2015 Aug 6;4:e05563. doi: 7554/eLife.05563. PMID: 26247711
  • Feigenspan A, Babai N (2015) Functional properties of spontaneous excitatory currents and encoding of light/dark transitions in horizontal cells of the mouse retina. Eur J Neurosci. 2015 Nov;42(9):2615-32. doi: 1111/ejn.13016. Epub 2015 Jul 30. PMID: 26173960
  • Wheway G, Schmidts M, Mans DA,…, Kessler K, Gießl A,…,Thiel CT, et al. (2015) An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 1038/ncb3201. Epub 2015 Jul 13. PMID: 26167768
  • Kessler K, Wunderlich I, Uebe S, Falk NS, Gießl A, Brandstätter JH, Popp B, Klinger P, Ekici AB, Sticht H, Dörr HG, Reis A, Roepman R, Seemanová E, Thiel CT (2015) DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. Sci Rep. 2015 Jul 1;5:11649. doi: 1038/srep11649. PMID: 26130459
  • Derlig K, Gießl A, Brandstätter JH, Enz R, Dahlhaus R (2015) Special characteristics of the transcription and splicing machinery in photoreceptor cells of the mammalian retina. Cell Tissue Res. 2015 Nov;362(2):281-94. doi: 1007/s00441-015-2204-x. Epub 2015 May 27. PMID: 26013685
  • Zahnleiter D, Hauer NN, Kessler K, Uebe S, Sugano Y, Neuhauss SC, Gießl A, Ekici AB, Blessing H, Sticht H, Dörr HG, Reis A, Thiel CT (2015) MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and golgi architecture as a central mechanism in growth regulation. Hum Mutat. 2015 Jan;36(1):87-97. doi: 1002/humu.22711. Epub 2014 Nov 28. PMID: 25323976