Publications

 

46 Original Articles

2024

  • Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B*, Distelmaier F, Haack TB*. ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations. Brain. 2024 Feb 22:awae058. [*Co-last].
  • Loe-Mie Y, Plançon C, Dubertret C, Yoshikawa T, Yalcin B, Collins SC, Boland A, Deleuze JF, Gorwood P, Benmessaoud D, Simonneau M, Lepagnol-Bestel AM. De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes. Life. 2024 Feb 9;14(2):244.

2023

  • Kretz P, Wagner C, Mikhaleva A, Montillot C, Hugel S, Morella I, Kannan M, Fischer MC, Milhau M, Yalcin I,Brambilla R, Selloum M, Herault Y, Reymond A, Collins S, Yalcin B. Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein. Genome Biology. 2023 Nov 15;24(1):261.
  • Cisneros J, Lalande A, Yalcin B, Meriaudeau F, Collins SC. Automatic Segmentation of Histological Images of Mouse Brains. Algorithms. 2023, 16, 553.
  • Montillot C, Skutunova E, Ayushma, Dubied M, Lahmar A, Nguyen S, Peerally B, Prin F, Duffourd Y, Thauvin-Robinet C, Duplomb L, Wang H, Ansar M, Faivre L, Navarro N, Minocha S, Collins SC, Yalcin B. Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected. Neurobiology of Disease. 2023 Sep;185:106259.
  • Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby A, Baple EL, Logan DW, Hurles ME, Gerety SS. Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Brain. 2023 Jul 12:awad231e.
  • Denommé-Pichon AS**, Collins SC, Bruel AL, Mikhaleva A, Wagner C, Vancollie VE, Thomas Q, Chevarin M, Weber M, Prada CE, Overs A, Palomares-Bralo M, Santos-Simarro F, Pacio-Míguez M, Busa T, Legius E, Bacino CA, Rosenfeld JA, Le Guyader G, Egloff M, Le Guillou X, Mencarelli MA, Renieri A, Grosso S, Levy J, Dozières B, Desguerre I, Vitobello A, Duffourd Y, Lelliott CJ, Thauvin-Robinet C, Philippe C, Faivre L*, Yalcin B*,**. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse. Genetics in Medicine. 2023 Mar 28:100835 [*Co-last/**Correspondence].

2022

  • Collins SC, Vancollie VE, Mikhaleva A, Wagner C, Balz R, Lelliott CJ, Yalcin B*. Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome. International Journal of Molecular Sciences 2022 Sep 29;23(19):11509 [*Invited].
  • Nguyen S, Kannan M, Gaborit M, Collins SC, Yalcin B*. Quantitative Neuroanatomical Phenotyping of the Embryonic Mouse Brain. Current Protocols. 2022 Jul;2(7):e509 [*Invited].
  • Romero DM, Poirier K, Belvindrah R, Moutkine I, Houllier A, LeMoing AG, Petit F, Boland A, Collins SC, Soiza-Reilly M, Yalcin B, Chelly J, Deleuze JF, Bahi-Buisson N, Francis F. Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development. Nature Communications. 2022 May 18;13(1):2746.
  • Rawlins LE, Almousa H, Khan S, Collins SC, Milev MP, Leslie J, Saint-Dic D, Khan V, Hincapie AM, Day JO, McGavin L, Rowley C, Harlalka GV, Vancollie VE, Ahmad W, Lelliott CJ, Gul A, Yalcin B*, Crosby AH*, Sacher M*, Baple EL*. Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice. PLoS Genetics. 2022 Mar 17;18(3):e1010114 [*Co-last].

2021

  • Szpak* M, Collins SC, Li Y, Liu X, Ayub Q, Fischer MC, Vancollie VE, Lelliott CJ, Xue Y, Yalcin B*, Yang H, Tyler-Smith C*. A positively-selected MAGEE2 LoF allele is associated with sexual dimorphism in human brain size, and shows similar phenotypes in Magee2 null mice. Molecular Biology and Evolution. 2021 Aug 31:msab243 [*Correspondence].
  • Baud A, Casale FP, Barkley-Levenson AM, Farhadi N, Montillot C, Yalcin B, Nicod J, Palmer AA, Stegle O. Dissecting indirect genetic effects from peers in laboratory mice. Genome Biology. 2021 Jul 26;22(1):216.
  • Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. American Journal of Human Genetics. 2021 May 6;108(5):857-873.
  • Niewiadomska-Cimicka A, Doussau F, Perot JB, Roux MJ, Keime C, Hache A, Piguet F, Novati A, Weber C, Yalcin B, Meziane H, Champy MF, Grandgirard E, Karam A, Messaddeq N, Eisenmann A, Brouillet E, Nguyen HHP, Flament J, Isope P, Trottier Y. SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2. Journal of Neuroscience. 2021 Jun 2;41(22):4910-4936.
  • Bonfante B, Faux P, Navarro N, Mendoza-Revilla J, Dubied M, Montillot C, Wentworth E, Poloni L, Varón-González C, Jones P, Xiong Z, Fuentes-Guajardo M, Palmal S, Chacón-Duque JC, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Barquera R, Everardo-Martínez P, Sánchez-Quinto M, Gómez-Valdés J, Villamil-Ramírez H, Silva de Cerqueira CC, Hünemeier T, Ramallo V, Liu F, Weinberg SM, Shaffer JR, Stergiakouli E, Howe LJ, Hysi PG, Spector TD, Gonzalez-José R, Schüler-Faccini L, Bortolini MC, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Thauvin-Robinet C, Faivre L, Costedoat C, Balding D, Cox T, Kayser M, Duplomb L, Yalcin B, Cotney J, Adhikari K, Ruiz-Linares A. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation. Science Advances. 2021 Feb 5;7(6):eabc6160.
  • Jeanne M, Vuillaume ML, Ung DC, Vancollie VE, Wagner C, Collins SC, Vonwill S, Haye D, Chelloug N, Pfundt R, Kummeling J, Moizard MP, Marouillat S, Kleefstra T, Yalcin B, Laumonnier F, Toutain A. Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth. Human Genetics. 2021 Jan 8.

2020

  • Duncan AR, Vitobello A, Collins SC, Vancollie VE, Lelliott CJ, Rodan L, Shi J, Seman AR, Agolini E, Novelli A, Prontera P, Guillen Sacoto MJ, Santiago-Sim T, Trimouille A, Goizet C, Nizon M, Bruel AL, Philippe C, Grant PE, Wojcik MH, Stoler J, Genetti CA, van Dooren MF, Maas SM, Alders M, Faivre L, Sorlin A, Yoon G, Yalcin B*, Agrawal PB*. Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. American Journal of Human Genetics. 2020 Dec 3;107(6):1170-1177 [*Correspondence].
  • Liang ZS, Cimino I, Yalcin B, Raghupathy N, Vancollie VE, Ibarra-Soria X, Firth HV, Rimmington D, Farooqi IS, Lelliott CJ, Munger SC, O’Rahilly S, Ferguson-Smith AC, Coll AP, Logan DW. Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity. Plos Genetics. 2020 Sep 2;16(9):e1008916.
  • Milh M, Roubertoux P, Biba N, Chavany J, Spiga Ghata A, Fulachier C, Collins SC, Wagner C, Roux JC, Yalcin B, Félix MS, Molinari F, Lenck-Santini PP, Villard L. A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment. Epilepsia. 2020 May;61(5):868-878.
  • Gilet J, Ivanova E, Trofimova D, Rudolf G, Meziane H, Broix L, Drouot N, Courraud J, Skory V, Voulleminot P, Osipenko M, Bahi-Buisson N, Yalcin B, Birling MC, Hinckelmann MV, Kwok BH, Allingham JS, Chelly J. Conditional switching of KIF2A mutation provides new insights into cortical malformations pathogeny. Human Molecular Genetics. 2020 Jan 10.

2019

  • Collins SC, Mikhaleva A, Vrcelj K, Vancollie VE, Wagner C, Demeure N, Whitley H, Kannan M, Balz R, Anthony LFE, Edwards A, Moine H, White JK, Adams DJ, Reymond A, Lelliott CJ, Webber C, Yalcin B. Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature Communications. 2019 Aug 1;10(1):3465.
  • Collins SC, Uzquiano A, Selloum M, Wendling O, Gaborit M, Osipenko M, Birling MC, Yalcin B*, Francis F*. The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia. Journal of Anatomy. 2019 Sep;235(3):637-650 [*Correspondence].
  • Ivanova EL, Gilet JG, Sulimenko V, Duchon A, Rudolf G, Runge K, Collins SC, Asselin L, Broix L, Drouot N, Tilly P, Nusbaum P, Vincent A, Magnant W, Skory V, Birling MC, Pavlovic G, Godin JD, Yalcin B, Hérault Y, Dráber P, Chelly J, Hinckelmann MV. TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis. Nature Communications. 2019 May 13;10(1):2129.

2018

  • Lilue J, Doran AG, Fiddes IT, Abrudan M, Armstrong J, Bennett R, Chow W, Collins J, Collins S, Czechanski A, Danecek P, Diekhans M, Dolle DD, Dunn M, Durbin R, Earl D, Ferguson-Smith A, Flicek P, Flint J, Frankish A, Fu B, Gerstein M, Gilbert J, Goodstadt L, Harrow J, Howe K, Ibarra-Soria X, Kolmogorov M, Lelliott CJ, Logan DW, Loveland J, Mathews CE, Mott R, Muir P, Nachtweide S, Navarro FCP, Odom DT, Park N, Pelan S, Pham SK, Quail M, Reinholdt L, Romoth L, Shirley L, Sisu C, Sjoberg-Herrera M, Stanke M, Steward C, Thomas M, Threadgold G, Thybert D, Torrance J, Wong K, Wood J, Yalcin B, Yang F, Adams DJ, Paten B, Keane TM. Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci. Nature Genetics. 2018 Nov;50(11):1574-1583.
  • Collins SC, Wagner C, Gagliardi L, Kretz PF, Fischer MC, Kannan M, Yalcin B*. A method for parasagittal sectioning for neuroanatomical quantification of brain structure in the adult mouse. Current Protocols in Mouse Biology. 2018 [*Invited].

2017

  • Kannan M, Bayam E, Wagner C, Rinaldi B, Kretz PF, Tilly P, Roos M, McGillewie L, Bär S, Minocha S, Chevalier C, Po C, Chelly J, Mandel JL, Borgatti R, Piton A, Kinnear C, Loos B, Adams DJ, Hérault Y, Collins SC, Friant S, Godin JD, Yalcin B. WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proc Natl Acad Sci U S A. 2017 Oct 31;114(44):E9308-E9317.
  • Loviglio MN, Arbogast T, Jønch AE, Collins SC, Popadin K, Bonnet CS, Giannuzzi G, Maillard AM, Jacquemont S; 16p11.2 Consortium, Yalcin B, Katsanis N, Golzio C, Reymond A. The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. American Journal of Human Genetics. 2017 Oct 5;101(4):564-577.
  • van der Werf IM, Van Dam D, Missault S, Yalcin B, De Deyn PP, Vandeweyer   G, Kooy RF. Behavioural characterization of AnkyrinG deficient mice, a model for ANK3 related disorders. Behavioural Brain Research. 2017 Jun 15;328:218-226.

2016

  • Mikhaleva A, Kannan M, Wagner C, Yalcin B*. High-throughput morphological phenotyping of the mouse brain. Current Protocols in Mouse Biology. 2016 [*Invited].

2013

  • Simon M, Greenaway S, White J, Fuchs H, Gailus-Durner V, Sorg T, Wong W, Bedu E, Cartwright E, Dacquin R, Djebali S, Estabel J, Graw J, Ingham N, Jackson I, Lengeling A, Mandillo S, Marvel J, Meziane H, Preitner F, Puk O, Roux M, Adams D, Atkins S, Ayadi A, Becker L, Blake A, Brooker D, Cater H, Champy MF, Combe R, Danecek P, di Fenza A, Gates H, Gerdin AK, Golini E, Hancock J, Hans W, Hölter S, Hough T, Jurdic P, Keane T, Morgan H, Müller W, Neff F, Nicholson G, Pasche B, Roberson LA, Rozman J, Sanderson M, Santos L, Selloum M, Shannon C, Southwell, Tocchini-Valentini A, Vancollie V, Wells S, Westerberg H, Wurst W, Zi M, Yalcin B*, Ramirez-Solis R*, Steel K*, Mallon AM*, Hrabé de Angelis M*, Hérault Y*, Brown S*. A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. Genome Biology. 2013, 14(7):R82 [*Co-last].
  • White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Yalcin B, Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP. Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes. Cell. 2013, 154(2) :452-64.

2012

  • Yalcin B*, Wong K, Bhomra A, Goodson M, Keane T, Adams D, Flint J. The fine-scale architecture of structural variants in 17 mouse genomes. Genome Biology. 2012, 13(3):R18 [*Correspondence].
  • Nellåker C, Keane T, Yalcin B, Wong K, Agam A, Belgard G, Flint J, Adams D, Frankel W, Ponting C. The genomic landscape shaped by selection on transposable elements across 18 mouse strains. Genome Biology. 2012, 13(6):R45.
  • Collaborative Cross Consortium. The genome architecture of the Collaborative Cross mouse genetic reference population. Genetics. 2012, 190(2):389-401.

2011                           

  • Yalcin B, Wong K, Agam A, Goodson M, Keane T, Gan X, Nellåker C, Goodstadt L, Nicod J, Bhomra A, Hernandez-Pliego P, Whitley H, Cleak J, Dutton R, Mott R, Adams D, Flint J. Sequence based characterization of structural variation in the mouse genome. Nature. 2011, 477(7364):326-9.
  • Keane T, Goodstadt L, Danecek P, White M, Wong K, Yalcin B, Heger A, Agam A, Slater G, Goodson M, Furotte N, Eskin E, Nellåker C, Whitley H, Cleak J, Janowitz D, Hernandez-Pliego P, Edwards A, Belgard G, Oliver P, McIntyre R, Bhomra A, Nicod J, Gan X, Yuan W, van der Weyden L, Steward C, Balasubramaniam S, Stalker J, Mott R, Durbin R, Jackson I, Czechanski, Assuncao J, Donahue L, Reinholdt, Payseur B, Ponting C, Birney E, Flint J, Adams D. Mouse genomic variation and its effect on phenotypes and gene regulation. Nature. 2011, 477(7364):289-94.
  • Durrant C, Tayem H, Yalcin B, Cleak J, Goodstadt L, Pardo-Manuel de Villena F, Mott R, Iraqi F. Collaborative Cross mice and their power to map host susceptibility to Aspergillus fumigatus infection. Genome Research. 2011, 21(8):1239-1248.

2010

  • Yalcin B, Nicod J, Bhomra A, Davidson S, Cleak J, Farinelli L, Østerås M, Yuan W, Whitley A, Gan X, Goodson M, Klenerman P, Satpathy A, Benoist C, Adams DJ, Mott R, Flint J. Commercially available outbred mice for genome-wide association studies. Plos Genetics. 2010, 2;6(9).
  • Agam A*, Yalcin B*, Bhomra A, Cubin M, Webber C, Holmes C, Flint J, Mott R. Elusive copy number variation in the mouse genome. Plos One. 2010, 5(9) [*Co-first].

2009

  • Huang G, Shifman S, Valdar W, Johannesson M, Yalcin B, Taylor MS, Taylor JM, Mott R, Flint J. High resolution mapping of expression QTLs in heterogeneous stock mice in multiple tissues. Genome Research. 2009, 19: 1133-1140.

2008

  • Munafò MR, Yalcin B, Willis-Owen SA, Flint J. Association of the dopamine D4 receptor (DRD4) gene and approach-related personality traits: meta-analysis and new data. Biological Psychiatry. 2008, 63: 197-206.
  • Fullerton J, Willis-Owen SA, Yalcin B, Shifman S, Copley RR, Miller S, Bhomra A, Davidson S, Oliver PL, Mott R, Flint J. Human-mouse quantitative trait locus concordance and the dissection of a human neuroticism locus. Biological Psychiatry. 2008, 63: 874-883.

2005

  • Yalcin B, Flint J, Mott R. Using progenitor strain information to identify quantitative trait nucleotides in outbred mice. Genetics. 2005, 171: 673-681.

2004

  • Yalcin B, Willis-Owen SA, Fullerton J, Meesaq A, Deacon RM, Rawlins JNP, Copley RR, Morris AP, Flint J, Mott R. Genetic dissection of a behavioural quantitative trait locus shows that Rgs2 modulates anxiety in mice. Nature Genetics. 2004, 36: 1197-1202.
  • Yalcin B, Fullerton J, Miller S, Keays DA, Brady SA, Bhomra A, Jefferson A, Volpi E, Copley RR, Flint J, Mott R. Unexpected complexity in the haplotypes of commonly used inbred strains of laboratory mice. Proc Natl Acad Sci U S A. 2004, 101: 9734-9739

 

 

3 Review Articles

2014

  • Keane TM, Wong K, Adams DJ, Flint J, Reymond A, Yalcin B*. Identification of structural variation in mouse genomes. Frontiers in Genetics. 2014, 5:19 [*Invited and Correspondence].

2012

  • Yalcin B*, Adams D, Flint J, Keane T. Next-generation sequencing of experimental mouse strains. Mammalian Genome. 2012, 23(9-10):490-8 [*Invited and Correspondence].
  • Yalcin B*, Flint J. Association studies in outbred mice in a new era of full-genome sequencing. Mammalian Genome. 2012, 23(9-10):719-26 [*Invited and Correspondence].

 

 

1 Book Chapter

2022

  • Collins SC and Yalcin B*. Translational research methods in neurodevelopment disorder. Springer [*Invited and Correspondence].

 

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