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Select item 111137361.

Combinatorial activity of Six1-2-4 genes in cephalic neural crest cells controls craniofacial and brain development

Ricardo C. Garcez, Nicole M. Le Douarin, Sophie E. Creuzet

Cell Mol Life Sci. 2014 Jun; 71(11): 2149–2164. Published online 2013 Sep 24. doi: 10.1007/s00018-013-1477-z

PMCID:: PMC11113736

Article PDF–2.0M

Select item 86062162.

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Valérie Ortonne, Virginie Benoit, Sophie Brisset, Lionel Van Maldergem, Quitterie Laudouar, Solveig Heide, Michel Goossens, Irina Giurgea, Gérard Tachdjian, Corinne Métay

Mol Genet Genomic Med. 2021 Nov; 9(11): e1645. Published online 2021 Sep 28. doi: 10.1002/mgg3.1645

PMCID:: PMC8606216

Article PDF–1.3M

Select item 85607483.

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

Natja Haag, Ene-Choo Tan, Matthias Begemann, Lars Buschmann, Florian Kraft, Petra Holschbach, Angeline H. M. Lai, Maggie Brett, Ganeshwaran H. Mochida, Stephanie DiTroia, Lynn Pais, Jennifer E. Neil, Muna Al-Saffar, Laila Bastaki, Christopher A. Walsh, Ingo Kurth, Cordula Knopp

Eur J Hum Genet. 2021 Nov; 29(11): 1663–1668. Published online 2021 Aug 20. doi: 10.1038/s41431-021-00943-5

PMCID:: PMC8560748

Article PDF–1.3M

Select item 85136054.

Δ9-Tetrahydrocannabinol inhibits Hedgehog-dependent patterning during development

Hsiao-Fan Lo, Mingi Hong, Henrietta Szutorisz, Yasmin L. Hurd, Robert S. Krauss

Development. 2021 Oct 1; 148(19): dev199585. Published online 2021 Oct 6. doi: 10.1242/dev.199585

PMCID:: PMC8513605

Article

Select item 83414365.

Compound heterozygous splicing CDON variants result in isolated ocular coloboma

Linda M Reis, Donald Basel, Julie McCarrier, David V Weinberg, Elena V Semina

Clin Genet. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Clin Genet. 2020 Nov; 98(5): 486–492. Published online 2020 Aug 17. doi: 10.1111/cge.13824

PMCID:: PMC8341436

Article PDF–794K

Select item 77586356.

The hedgehog co-receptor BOC differentially regulates SHH signaling during craniofacial development

Martha L. Echevarría-Andino, Benjamin L. Allen

Development. 2020 Dec 1; 147(23): dev189076. Published online 2020 Dec 14. doi: 10.1242/dev.189076

PMCID:: PMC7758635

Article

Select item 75272737.

WDR34 mutation from anencephaly patients impaired both SHH and PCP signaling pathways

Hailing Yin, Rui Peng, Zhongzhong Chen, Hongyan Wang, Ting Zhang, Yufang Zheng

J Hum Genet. 2020; 65(11): 985–993. Published online 2020 Jun 23. doi: 10.1038/s10038-020-0793-z

PMCID:: PMC7527273

Article PDF–1.7M

Select item 74677228.

Cdon mutation and fetal alcohol converge on Nodal signaling in a mouse model of holoprosencephaly

Mingi Hong, Annabel Christ, Anna Christa, Thomas E Willnow, Robert S Krauss

eLife. 2020; 9: e60351. Published online 2020 Sep 2. doi: 10.7554/eLife.60351

PMCID:: PMC7467722

Article PDF–2.9M

Select item 68941979.

Epigenome-wide base-resolution profiling of DNA methylation in chorionic villi of fetuses with Down syndrome by methyl-capture sequencing

Ji Hyae Lim, Yu-Jung Kang, Bom Yi Lee, You Jung Han, Jin Hoon Chung, Moon Young Kim, Min Hyoung Kim, Jin Woo Kim, Youl-Hee Cho, Hyun Mee Ryu

Clin Epigenetics. 2019; 11: 180. Published online 2019 Dec 4. doi: 10.1186/s13148-019-0756-4

PMCID:: PMC6894197

Article PDF–1.7M

Select item 677744710.

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

Paolo Prontera, Daniela Rogaia, Ester Sallicandro, Amedea Mencarelli, Valentina Imperatore, Gabriella Maria Squeo, Giuseppe Merla, Sandro Elisei, Danilo Moretti-Ferreira, Susanna Esposito, Gabriela Stangoni

Eur J Hum Genet. 2019 Aug; 27(8): 1260–1266. Published online 2019 Apr 1. doi: 10.1038/s41431-019-0385-6

PMCID:: PMC6777447

Article PDF–919K

Select item 625161711.

Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly

Sungkook Hong, Ping Hu, Erich Roessler, Tommy Hu, Maximilian Muenke

Hum Mol Genet. 2018 Jun 1; 27(11): 1989–1998. Published online 2018 Mar 23. doi: 10.1093/hmg/ddy106

PMCID:: PMC6251617

Article PDF–701K

Select item 604127012.

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity

Iain M. Dykes, Dorota Szumska, Linta Kuncheria, Rathi Puliyadi, Chiann-mun Chen, Costis Papanayotou, Helen Lockstone, Christèle Dubourg, Véronique David, Jurgen E. Schneider, Thomas M. Keane, David J. Adams, Steve D. M. Brown, Sandra Mercier, Sylvie Odent, Jérôme Collignon, Shoumo Bhattacharya

Sci Rep. 2018; 8: 10439. Published online 2018 Jul 11. doi: 10.1038/s41598-018-28714-1

PMCID:: PMC6041270

Article PDF–2.7M

Select item 576315713.

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

Karin Weiss, Paul Kruszka, Maria J Guillen Sacoto, Yonit A Addissie, Donald W Hadley, Casey K Hadsall, Bethany Stokes, Ping Hu, Erich Roessler, Beth Solomon, Edythe Wiggs, Audrey Thurm, Robert B Hufnagel, Wadih M Zein, Jin S Hahn, Elaine Stashinko, Eric Levey, Debbie Baldwin, Nancy J Clegg, Mauricio R Delgado, Maximilian Muenke

Genet Med. 2018 Jan; 20(1): 14–23. Published online 2017 Jun 22. doi: 10.1038/gim.2017.68

PMCID:: PMC5763157

Article PDF–1004K

Select item 567312014.

BOC is a Modifier Gene in Holoprosencephaly

Mingi Hong, Kshitij Srivastava, Sungjin Kim, Benjamin L. Allen, Daniel J. Leahy, Ping Hu, Erich Roessler, Robert S. Krauss, Maximilian Muenke

Hum Mutat. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Hum Mutat. 2017 Nov; 38(11): 1464–1470. Published online 2017 Jul 21. doi: 10.1002/humu.23286

PMCID:: PMC5673120

Article PDF–598K

Select item 561388715.

The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1

L.A. Lansdon, H.V. Bernabe, N. Nidey, J. Standley, M.J. Schnieders, J.C. Murray

J Dent Res. 2017 Oct; 96(11): 1339–1345. Published online 2017 Aug 21. doi: 10.1177/0022034517726496

PMCID:: PMC5613887

Article PDF–670K

Select item 540488516.

Ethanol itself is a holoprosencephaly-inducing teratogen

Mingi Hong, Robert S. Krauss

PLoS One. 2017; 12(4): e0176440. Published online 2017 Apr 25. doi: 10.1371/journal.pone.0176440

PMCID:: PMC5404885

Article PDF–8.4M

Select item 511723017.

Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model

Galen W. Heyne, Joshua L. Everson, Lydia J. Ansen-Wilson, Cal G. Melberg, Dustin M. Fink, Kia F. Parins, Padydeh Doroodchi, Caden M. Ulschmid, Robert J. Lipinski

Dis Model Mech. 2016 Nov 1; 9(11): 1307–1315. doi: 10.1242/dmm.026328

PMCID:: PMC5117230

Article

Select item 487149318.

Tgif1 and Tgif2 Regulate Axial Patterning in Mouse

Tiffany A. Melhuish, Kenichiro Taniguchi, David Wotton

PLoS One. 2016; 11(5): e0155837. Published online 2016 May 17. doi: 10.1371/journal.pone.0155837

PMCID:: PMC4871493

Article PDF–13M

Select item 413192519.

New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies

Lina Basel-Vanagaite, Eli Sprecher, Andrea Gat, Paul Merlob, Adi Albin-Kaplanski, Osnat Konen, Benjamin D. Solomon, Maximilian Muenke, Karl H. Grzeschik, Lea Sirota

Pediatr Dermatol. Author manuscript; available in PMC 2014 Aug 13.

Published in final edited form as: Pediatr Dermatol. 2012 Jan-Feb; 29(1): 89–95. Published online 2011 Oct 13. doi: 10.1111/j.1525-1470.2011.01403.x

PMCID:: PMC4131925

Article PDF–438K

Select item 410118720.

Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly

Ute Hehr, Daniel E. Pineda-Alvarez, Goekhan Uyanik, Ping Hu, Nan Zhou, Andreas Hehr, Chayim Schell-Apacik, Carola Altus, Cornelia Daumer-Haas, Annechristin Meiner, Peter Steuernagel, Erich Roessler, Juergen Winkler, Maximilian Muenke

Hum Genet. Author manuscript; available in PMC 2014 Jul 17.

Published in final edited form as: Hum Genet. 2010 Mar; 127(5): 555–561. Published online 2010 Feb 16. doi: 10.1007/s00439-010-0797-4