Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gilbert-Dussardier, Brigitte, Wittler, Lars, Borschiwer, Marina, Haas, Stefan A., Osterwalder, Marco, Franke, Martin, Timmermann, Bernd, Hecht, Jochen, Spielmann, Malte, Visel, Axel, Mundlos, Stefan
Published in Cell (21.05.2015)
Published in Cell (21.05.2015)
Get full text
Journal Article
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome
Pierce, Sarah B, Chisholm, Karen M, Lynch, Eric D, Lee, Ming K, Walsh, Tom, Opitz, John M, Li, Weiqing, Klevit, Rachel E, King, Mary-Claire
Published in Proceedings of the National Academy of Sciences - PNAS (19.04.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (19.04.2011)
Get full text
Journal Article
Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome
Pierce, Sarah B., Walsh, Tom, Chisholm, Karen M., Lee, Ming K., Thornton, Anne M., Fiumara, Agata, Opitz, John M., Levy-Lahad, Ephrat, Klevit, Rachel E., King, Mary-Claire
Published in American journal of human genetics (13.08.2010)
Published in American journal of human genetics (13.08.2010)
Get full text
Journal Article
Obesity: Genetic, molecular, and environmental aspects
Barness, Lewis A., Opitz, John M., Gilbert-Barness, Enid
Published in American journal of medical genetics. Part A (15.12.2007)
Published in American journal of medical genetics. Part A (15.12.2007)
Get full text
Journal Article
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
Astuti, Dewi, Morris, Mark R, Cooper, Wendy N, Staals, Raymond H J, Wake, Naomi C, Fews, Graham A, Gill, Harmeet, Gentle, Dean, Shuib, Salwati, Ricketts, Christopher J, Cole, Trevor, van Essen, Anthonie J, van Lingen, Richard A, Neri, Giovanni, Opitz, John M, Rump, Patrick, Stolte-Dijkstra, Irene, Müller, Ferenc, Pruijn, Ger J M, Latif, Farida, Maher, Eamonn R
Published in Nature genetics (01.03.2012)
Published in Nature genetics (01.03.2012)
Get full text
Journal Article
An evolutionary and developmental biology approach to gastroschisis
Opitz, John M, Feldkamp, Marcia L, Botto, Lorenzo D
Published in Birth defects research (01.04.2019)
Published in Birth defects research (01.04.2019)
Get more information
Journal Article
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
Friez, Michael J, Risheg, Hiba, Graham, John M, Clark, Robin D, Rogers, R Curtis, Opitz, John M, Moeschler, John B, Peiffer, Andreas P, May, Melanie, Joseph, Sumy M, Jones, Julie R, Stevenson, Roger E, Schwartz, Charles E
Published in Nature genetics (01.04.2007)
Published in Nature genetics (01.04.2007)
Get full text
Journal Article
Santos syndrome is caused by mutation in the WNT7A gene
Alves, Leandro U, Santos, Silvana, Musso, Camila M, Ezquina, Suzana Am, Opitz, John M, Kok, Fernando, Otto, Paulo A, Mingroni-Netto, Regina C
Published in Journal of human genetics (01.12.2017)
Published in Journal of human genetics (01.12.2017)
Get full text
Journal Article
Molecular Inversion Probe Array for the Genetic Evaluation of Stillbirth Using Formalin-Fixed, Paraffin-Embedded Tissue
Rowe, Leslie R, Thaker, Harshwardhan M, Opitz, John. M, Schiffman, Joshua D, Haddadin, Zaid M, Erickson, Lance K, South, Sarah T
Published in The Journal of molecular diagnostics : JMD (01.07.2013)
Published in The Journal of molecular diagnostics : JMD (01.07.2013)
Get full text
Journal Article
Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
Rope, Alan F., Wang, Kai, Evjenth, Rune, Xing, Jinchuan, Johnston, Jennifer J., Swensen, Jeffrey J., Johnson, W. Evan, Moore, Barry, Huff, Chad D., Bird, Lynne M., Carey, John C., Opitz, John M., Stevens, Cathy A., Jiang, Tao, Schank, Christa, Fain, Heidi Deborah, Robison, Reid, Dalley, Brian, Chin, Steven, South, Sarah T., Pysher, Theodore J., Jorde, Lynn B., Hakonarson, Hakon, Lillehaug, Johan R., Biesecker, Leslie G., Yandell, Mark, Arnesen, Thomas, Lyon, Gholson J.
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
Get full text
Journal Article
Phenotypes, pleiotropy, and phylogeny
Opitz, John M.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2017)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2017)
Get full text
Journal Article
Evolution in the clinic: Maladaptive units and “minor anomalies”
Carey, John C., Opitz, John M.
Published in American journal of medical genetics. Part A (01.02.2023)
Published in American journal of medical genetics. Part A (01.02.2023)
Get full text
Journal Article
Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome
Kaname, Tadashi, Yanagi, Kumiko, Chinen, Yasutsugu, Makita, Yoshio, Okamoto, Nobuhiko, Maehara, Hiroki, Owan, Ichiro, Kanaya, Fuminori, Kubota, Yoshiaki, Oike, Yuichi, Yamamoto, Toshiyuki, Kurosawa, Kenji, Fukushima, Yoshimitsu, Bohring, Axel, Opitz, John M., Yoshiura, Ko-ichiro, Niikawa, Norio, Naritomi, Kenji
Published in American journal of human genetics (01.10.2007)
Published in American journal of human genetics (01.10.2007)
Get full text
Journal Article