Publications

For a full list of publications and citations, see My Bibliography and  Google Scholar.

 

Orchid ID: https://orcid.org/0000-0002-1969-2313

Pubmedhttps://pubmed.ncbi.nlm.nih.gov/?term=marco+osterwalder
Scopus: https://www.scopus.com/authid/detail.uri?authorId=36178419000

2021

HAND transcription factors cooperatively specify the aorta and pulmonary trunk.

Vincentz JW, Firulli BA, Toolan KP, Osterwalder M, Pennacchio LA, Firulli AB. (2021).

Developmental Biology476:1-10. PMID: 33757801 PDF

Bi-fated tendon-to-bone attachment cells are regulated by shared enhancers and KLF transcription factors.

Kult S, Olender T, Osterwalder M, Markman S, Leshkowitz D, Krief S, Blecher-Gonen R, Ben-Moshe S, Farack L, Keren-Shaul H, Salame TM, Capellini TD, Itzkovitz S, Amit I, Visel A, Zelzer E. (2021).

Elife, 10:e55361. PMID: 33448926 PDF

2020

A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival.

Abassah-Oppong S, Mannion BJ, Tissières V, Rodríguez-Carballo E, Ljubojevic A, Darbellay F, Festa TA, Sullivan CS, Kelman G, Hunter RD, Novak CS, Plajzer-Frick I, Tran S, Akiyama JA, Barozzi I, Andrey G, Lopez-Rios J, Dickel DE, Visel A, Pennacchio LA, Cobb J, Osterwalder M. (2020).

Biorxiv. doi: https://doi.org/10.1101/2020.11.22.393173 PDF

The mole genome reveals regulatory rearrangements associated with adaptive intersexuality.

Real FM, Haas SA, Franchini P, Xiong P, Simakov O, Kuhl H, Schöpflin R, Heller D, Moeinzadeh MH, Heinrich V, Krannich T, Bressin A, Hartmann MF, Wudy SA, Dechmann DKN, Hurtado A, Barrionuevo FJ, Schindler M, Harabula I, Osterwalder M, Hiller M, Wittler L, Visel A, Timmermann B, Meyer A, Vingron M, Jiménez R, Mundlos S, Lupiáñez DG. (2020).

Science, 370:208-214. PMID 33033216 PDF

 
Loss of extreme long-range enhancers in human neural crest drives a craniofacial disorder.

Long HK, Osterwalder M, Welsh IC, Hansen K, Davies JOJ, Liu YE, Koska M, Adams AT, Aho R, Arora N, Ikeda K, Ruth RM, Sauka-Spengler T, Porteus MH, Mohun T, Dickel DE, Swigut T, Hughes JR, Higgs DR, Visel A, Selleri L, Wysocka J. (2020).
Cell Stem Cell27:765-783.e14PMID 32991838 PDF

Interrogating the Grainyhead-like 2 (Grhl2) Genomic Locus Identifies an Enhancer Element That Regulates Palatogenesis in Mouse.

De Vries M, Carpinelli M, Rutland E, Hatzipantelis A, Partridge D, Auden A, Anderson PJ, De Groef B, Wu H, Osterwalder M, Visel A, Jane SM, Dworkin S. (2020).

Developmental Biology459:194-203. PMID 31782997 PDF

2019

Noncoding deletions reveal a gene that is critical for intestinal function.

Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA. (2019).

Nature, 571:107-111. PMID 31217582 PDF

Cardiac Reprogramming Factors Synergistically Activate Genome-wide Cardiogenic Stage-Specific Enhancers.

Hashimoto H, Wang Z, Garry GA, Malladi VS, Botten GA, Ye W, Zhou H, Osterwalder M, Dickel DE, Visel A, Liu N, Bassel-Duby R, Olson EN. (2019).

Cell Stem Cell, 25:69-86.e5. PMID 31080136 PDF

2018

Enhancer redundancy provides phenotypic robustness in mammalian development.

Osterwalder M, Barozzi I, Tissières V, Fukuda-Yuzawa Y, Mannion BJ, Afzal S, Lee EA, Zhu Y, Plajzer-Frick I, Pickle CS, Kato M, Garvin TH, Pham QT, Harrington AN, Akiyama JA, Afzal V, Lopez-Rios J, Dickel DE, Visel A, Pennacchio LA. (2018).
Nature, 554: 239-243.
 PMID 29420474 PDF

 

Ultraconserved Enhancers are Required for Normal Development.

Dickel DE, Ypsilanti AR, Pla R, Zhu Y, Barozzi I, Mannion BJ, Khin Y, Fukuda-Yuzawa Y, Plajzer-Frick I, Pickle CS, Lee EA, Harrington AN, Pham QT, Garvin TH, Kato M, Osterwalder M, Akiyama JA, Afzal V, Rubenstein JLR, Pennacchio LA, Visel A. (2018).

Cell, 172: 491-499. PMID 29358049 PDF

2017

 

Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).

Will AJ, Cova G, Osterwalder M, Chan WL, Wittler L, Brieske N, Heinrich V, de Villartay JP, Vingron M, Klopocki E, Visel A, Lupianez DG,

Mundlos S. (2017).

Nature Genetics, 49: 1539-1545. PMID 28846100  PDF

Limb-Enhancer Genie: An accessible resource of accurate enhancer predictions in the developing limb.

Monti R, Barozzi I, Osterwalder M, Lee E, Kato M, Garvin TH, Plajzer-Frick I, Pickle CS, Akiyama JA, Afzal V, Beerenwinkel N, Dickel DE, Visel A, Pennacchio LA. (2017).

PLoS Computational Biology, 13: e1005720. PMID 28827824 PDF

HAND2 Target Gene Regulatory Networks Control Atrioventricular Canal and Cardiac Valve Development.

Laurent F, Girdziusaite A, Gamart J, Barozzi I, Osterwalder M, Akiyama JA, Lincoln J, Lopez-Rios J, Visel A, Zuniga A, Zeller R. (2017).

Cell Reports, 19(8):1602-1613. PMID 28538179 PDF

2016

Distal Limb Patterning Requires Modulation of cis-Regulatory Activities by HOX13.

Sheth R, Barozzi I, Langlais D, Osterwalder M, Nemec S, Carlson HL, Stadler HS, Visel A, Drouin J, Kmita M. (2016).

Cell Reports, 17: 2913-2926. PMID 27974206 PDF

Progressive Loss of Function in a Limb Enhancer During Snake Evolution.

Kvon EZ, Kamneva O, Melo US, Barozzi I, Osterwalder M, Mannion BJ, Tissières V, Pickle C, Plajzer-Frick I, Lee EA, Kato M, Garvin TH, Akiyama JA, Afzal V, Lopez-Rios J, Rubin EM, Dickel DE, Pennacchio LA, Visel A. (2016).

Cell, 167: 633-642. PMID 27768887 PDF

 

Genome-wide Compendium and Functional Assessment of in vivo Heart Enhancers.

Dickel DE, Barozzi I, Zhu Y, Fukuda-Yuzawa Y, Osterwalder M, Mannion BJ, May D, Spurrell CH, Plajzer-Frick I, Pickle CS, Lee E, Garvin T, Kato M, Akiyama JA, Afzal V, Lee AY, Gorkin DU, Ren B, Rubin EM, Visel A, Pennacchio LA. (2016).

Nature Communications, 7: 12923. PMID 27703156 PDF

A unique stylopod patterning mechanism by Shox2-controlled osteogenesis.

Ye W, Song Y, Huang Z, Osterwalder M, Ljubojevic A, Xu J, Bobick B, Abassah-Oppong S, Ruan N, Shamby R, Yu D, Zhang L, Cai CL, Visel A, Zhang Y, Cobb J, Chen Y. (2016).

Development, 143: 2548-60. PMID 27287812 PDF

2015

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.

Lupianez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz J M, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, Osterwalder M, Franke M, Timmermann B, Hecht J, Spielmann M, Visel A, Mundlos S. (2015).

Cell, 161: 1012-1025. PMID 25959774 PDF

2014

Hand2 is an essential regulator for two Notch-dependent functions within the embryonic endocardium.

VanDusen NJ, Casanovas J, Vincentz JW, Firulli BA, Osterwalder M, Lopez-Rios J, Zeller R, Zhou B, Grego-Bessa J, De La Pompa JL, Shou W, Firulli AB. (2014).

Cell Reports, 9: 2071-2083. PMID 25497097 PDF

HAND2 targets define a network of transcriptional regulators that compartmentalize the early limb bud mesenchyme.

Osterwalder M, Speziale S, Shoukry M, Mohan R, Ivanek R, Kohler M, Beisel C, Wen X, Scales SJ, Christoffels VM, Visel A, Lopez-Rios J and Zeller R. (2014).

Developmental Cell, 34: 345-357. PMID 25453830 PDF

2012

Islet1 regulates establishment of the posterior hindlimb field upstream of the Hand2-Shh morphoregulatory gene network in mouse embryos.

Itou J, Kawakami H, Quach T, Osterwalder M, Evans SM, Zeller R, Kawakami Y. (2012).

Development, 28: 1620-9. PMID 22438573 PDF

GLI3 Constrains Digit Number by Controlling Both Progenitor Proliferation and BMP-Dependent Exit to Chondrogenesis.

Lopez-Rios J, Speziale D, Robay D, Scotti M, Osterwalder M, Nusspaumer G, Galli A, Holländer GA, Kmita M, Zeller R. (2012).

Developmental Cell, 22: 837–848. PMID 22465667 PDF

2010

Dual RMCE for efficient re-engineering of mouse mutant alleles.

Osterwalder M, Galli A, Rosen B, Skarnes WC, Zeller R, Lopez-Rios J. (2010).

Nature Methods, 7: 893-895. PMID 20953177 PDF

Distinct roles of Hand2 in initiating polarity and posterior Shh expression during the onset of mouse limb bud development.

Galli A, Robay D, Osterwalder M, Bao X, Benazet JD, Tariq M, Paro R, Mackem S, Zeller R. (2010).

PLoS Genetics, 6: e1000901. PMID 20386744 PDF