PMC Links for Books (Select 1474776) - PMC

Paul Kruszka, Seth I Berger, Valentina Casa, Mike R Dekker, Jenna Gaesser, Karin Weiss, Ariel F Martinez, David R Murdock, Raymond J Louie, Eloise J Prijoles, Angie W Lichty, Oebele F Brouwer, Evelien Zonneveld-Huijssoon, Mark J Stephan, Jacob Hogue, Ping Hu, Momoko Tanima-Nagai, Joshua L Everson, Chitra Prasad, Anna Cereda, Maria Iascone, Allison Schreiber, Vickie Zurcher, Nicole Corsten-Janssen, Luis Escobar, Nancy J Clegg, Mauricio R Delgado, Omkar Hajirnis, Meena Balasubramanian, Hülya Kayserili, Matthew Deardorff, Raymond A Poot, Kerstin S Wendt, Robert J Lipinski, Maximilian Muenke

Brain. 2019 Sep; 142(9): 2631–2643. Published online 2019 Jul 23. doi: 10.1093/brain/awz210

PMCID:: PMC7245359

Abstract Article PDF–714K

Select item 71865694.

Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997–2011

Sarah C. Tinker, Suzanne M. Gilboa, Cynthia A. Moore, D. Kim Waller, Regina M. Simeone, Shin Y. Kim, Denise J. Jamieson, Lorenzo D. Botto, Jennita Reefhuis, National Birth Defects Prevention Study

Am J Obstet Gynecol. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Am J Obstet Gynecol. 2020 Feb; 222(2): 176.e1–176.e11. Published online 2019 Aug 24. doi: 10.1016/j.ajog.2019.08.028

PMCID:: PMC7186569

Abstract Article PDF–380K

Select item 70424895.

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

Joel J. Hughes, Ebba Alkhunaizi, Paul Kruszka, Louise C. Pyle, Dorothy K. Grange, Seth I. Berger, Katelyn K. Payne, Diane Masser-Frye, Tommy Hu, Michelle R. Christie, Nancy J. Clegg, Joshua L. Everson, Ariel F. Martinez, Laurence E. Walsh, Emma Bedoukian, Marilyn C. Jones, Catharine Jean Harris, Korbinian M. Riedhammer, Daniela Choukair, Patricia Y. Fechner, Meilan M. Rutter, Sophia B. Hufnagel, Maian Roifman, Gad B. Kletter, Emmanuele Delot, Eric Vilain, Robert J. Lipinski, Chad M. Vezina, Maximilian Muenke, David Chitayat

Am J Hum Genet. 2020 Jan 2; 106(1): 121–128. Published online 2019 Dec 26. doi: 10.1016/j.ajhg.2019.12.004

PMCID:: PMC7042489

Abstract Article PDF–1.1M

Select item 67776336.

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Pietro Palumbo, Antonio Petracca, Roberto Maggi, Tommaso Biagini, Grazia Nardella, Michele Carmine Sacco, Elia Di Schiavi, Massimo Carella, Lucia Micale, Marco Castori

Eur J Hum Genet. 2019 Jul; 27(7): 1113–1120. Published online 2019 Feb 20. doi: 10.1038/s41431-019-0350-4

PMCID:: PMC6777633

Abstract Article PDF–1.1M

Select item 66907557.

Novel Heterozygous Variants in KMT2D Associated with Holoprosencephaly

Cedrik Tekendo-Ngongang, Paul Kruszka, Ariel F Martinez, Maximilian Muenke

Clin Genet. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Clin Genet. 2019 Sep; 96(3): 266–270. Published online 2019 Jul 15. doi: 10.1111/cge.13598

PMCID:: PMC6690755

Abstract Article PDF–848K

Select item 65068678.

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

Paul Kruszka, Seth I. Berger, Karin Weiss, Joshua L. Everson, Ariel F. Martinez, Sungkook Hong, Kwame Anyane-Yeboa, Robert J. Lipinski, Maximilian Muenke

Am J Hum Genet. 2019 May 2; 104(5): 990–993. Published online 2019 Apr 18. doi: 10.1016/j.ajhg.2019.03.017

PMCID:: PMC6506867

Abstract Article PDF–606K

Select item 64174299.

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly

Kelly A Bear, Benjamin D Solomon, Sonir Antonini, Ivo J P Arnhold, Marcela M França, Erica H Gerkes, Dorothy K Grange, Donald W Hadley, Jarmo Jääskeläinen, Sabrina S Paulo, Patrick Rump, Constantine A Stratakis, Elizabeth M Thompson, Mary Willis, Thomas L Winder, Alexander A L Jorge, Erich Roessler, Maximilian Muenke

J Med Genet. Author manuscript; available in PMC 2019 Mar 14.

Published in final edited form as: J Med Genet. 2014 Jun; 51(6): 413–418. Published online 2014 Apr 17. doi: 10.1136/jmedgenet-2013-102249

PMCID:: PMC6417429

Abstract Article PDF–436K

Select item 625161710.

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

Abstract Article PDF–701K

Select item 612786711.

Cytogenetics and Holoprosencephaly: A Chromosomal Microarray Study of 222 Individuals with Holoprosencephaly

Tommy Hu, Paul Kruszka, Ariel F. Martinez, Jeffrey E. Ming, Emily K. Shabason, Manu S. Raam, Tamim H. Shaikh, Daniel E. Pineda-Alvarez, Maximilian Muenke

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2018 Jun; 178(2): 175–186. doi: 10.1002/ajmg.c.31622

PMCID:: PMC6127867

Abstract Article PDF–637K

Select item 612518112.

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

Ariel F. Martinez, Paul S. Kruszka, Maximilian Muenke

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2018 Jun; 178(2): 246–257. Published online 2018 May 15. doi: 10.1002/ajmg.c.31616

PMCID:: PMC6125181

Abstract Article PDF–381K

Select item 612517513.

Syndromes Associated with Holoprosencephaly

Paul Kruszka, Maximilian Muenke

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2018 Jun; 178(2): 229–237. Published online 2018 May 17. doi: 10.1002/ajmg.c.31620

PMCID:: PMC6125175

Abstract Article PDF–251K

Select item 612516514.

Molecular Testing in Holoprosencephaly

Paul Kruszka, Ariel F. Martinez, Maximilian Muenke

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2018 Jun; 178(2): 187–193. Published online 2018 May 17. doi: 10.1002/ajmg.c.31617

PMCID:: PMC6125165

Abstract Article PDF–329K

Select item 576315715.

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

Abstract Article PDF–1004K

Select item 575011016.

SIX3 Deletions and Incomplete Penetrance in Families Affected by Holoprosencephaly

Bethany Stokes, Seth I. Berger, Beth A. Hall, Karin Weiss, Donald W. Hadley, David R. Murdock, Subhadra Ramanathan, Robin D. Clark, Erich Roessler, Paul Kruszka, Maximilian Muenke

Congenit Anom (Kyoto) Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Congenit Anom (Kyoto). 2018 Jan; 58(1): 29–32. Published online 2017 Aug 1. doi: 10.1111/cga.12234

PMCID:: PMC5750110

Abstract Article PDF–689K

Select item 506258217.

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome

Sungkook Hong, Ping Hu, Juliana Marino, Sophia B. Hufnagel, Robert J. Hopkin, Alma Toromanović, Antonio Richieri-Costa, Lucilene A. Ribeiro-Bicudo, Paul Kruszka, Erich Roessler, Maximilian Muenke

Hum Mol Genet. 2016 May 15; 25(10): 1912–1922. Published online 2016 Feb 29. doi: 10.1093/hmg/ddw064

PMCID:: PMC5062582

Abstract Article PDF–804K

Select item 431997518.

Homozygous STIL Mutation Causes Holoprosencephaly and Microcephaly in Two Siblings

Charlotte Mouden, Marie de Tayrac, Christèle Dubourg, Sophie Rose, Wilfrid Carré, Houda Hamdi-Rozé, Marie-Claude Babron, Linda Akloul, Bénédicte Héron-Longe, Sylvie Odent, Valérie Dupé, Régis Giet, Véronique David

PLoS One. 2015; 10(2): e0117418. Published online 2015 Feb 6. doi: 10.1371/journal.pone.0117418

PMCID:: PMC4319975

Abstract Article PDF–2.8M

Select item 375645519.

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain

J Med Genet. 2013 Sep; 50(9): 585–592. Published online 2013 Jun 28. doi: 10.1136/jmedgenet-2013-101603

PMCID:: PMC3756455

Abstract Article PDF–2.0M

Select item 351066120.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

F Lacbawan, B D Solomon, E Roessler, K El-Jaick, S Domené, J I Vélez, N Zhou, D Hadley, J Z Balog, R Long, A Fryer, W Smith, S Omar, S D McLean, K Clarkson, A Lichty, N J Clegg, M R Delgado, E Levey, E Stashinko, L Potocki, M I VanAllen, J Clayton-Smith, D Donnai, D W Bianchi, P B Juliusson, P R Njølstad, H G Brunner, J C Carey, U Hehr, J Müsebeck, P F Wieacker, A Postra, R C M Hennekam, M-J H van den Boogaard, A van Haeringen, A Paulussen, J Herbergs, C T R M Schrander-Stumpel, A R Janecke, D Chitayat, J Hahn, D M McDonald-McGinn, E H Zackai, W B Dobyns, M Muenke

J Med Genet. Author manuscript; available in PMC 2012 Nov 30.

Published in final edited form as: J Med Genet. 2009 Jun; 46(6): 389–398. Published online 2009 Apr 2. doi: 10.1136/jmg.2008.063818

PMCID:: PMC3510661

Abstract Article PDF–700K

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