Differential requirements of tubulin genes in mammalian forebrain development
Bittermann, Elizabeth, Abdelhamed, Zakia, Liegel, Ryan P, Menke, Chelsea, Timms, Andrew, Beier, David R, Stottmann, Rolf W
Published in PLoS genetics (06.08.2019)
Published in PLoS genetics (06.08.2019)
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Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants
Snedeker, John, Gibbons, Jr, William J, Paulding, David F, Abdelhamed, Zakia, Prows, Daniel R, Stottmann, Rolf W
Published in PLoS genetics (15.11.2019)
Published in PLoS genetics (15.11.2019)
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Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence
Lukacs, Marshall, Gilley, Jonathan, Zhu, Yi, Orsomando, Giuseppe, Angeletti, Carlo, Liu, Jiaqi, Yang, Xiuna, Park, Joun, Hopkin, Robert J., Coleman, Michael P., Zhai, R. Grace, Stottmann, Rolf W.
Published in Experimental neurology (01.10.2019)
Published in Experimental neurology (01.10.2019)
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A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice
Abdelhamed, Zakia, Vuong, Shawn M, Hill, Lauren, Shula, Crystal, Timms, Andrew, Beier, David, Campbell, Kenneth, Mangano, Francesco T, Stottmann, Rolf W, Goto, June
Published in Development (Cambridge) (01.01.2018)
Published in Development (Cambridge) (01.01.2018)
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Nubp2 is required for cranial neural crest survival in the mouse
DiStasio, Andrew, Paulding, David, Chaturvedi, Praneet, Stottmann, Rolf W.
Published in Developmental biology (15.02.2020)
Published in Developmental biology (15.02.2020)
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A tissue-specific role for intraflagellar transport genes during craniofacial development
Schock, Elizabeth N, Struve, Jaime N, Chang, Ching-Fang, Williams, Trevor J, Snedeker, John, Attia, Aria C, Stottmann, Rolf W, Brugmann, Samantha A
Published in PloS one (27.03.2017)
Published in PloS one (27.03.2017)
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Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development
Snedeker, John, Schock, Elizabeth N, Struve, Jamie N, Chang, Ching-Fang, Cionni, Megan, Tran, Pamela V, Brugmann, Samantha A, Stottmann, Rolf W
Published in PloS one (14.03.2017)
Published in PloS one (14.03.2017)
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Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly
DiStasio, Andrew, Driver, Ashley, Sund, Kristen, Donlin, Milene, Muraleedharan, Ranjith M, Pooya, Shabnam, Kline-Fath, Beth, Kaufman, Kenneth M, Prows, Cynthia A, Schorry, Elizabeth, Dasgupta, Biplab, Stottmann, Rolf W
Published in Human molecular genetics (15.12.2017)
Published in Human molecular genetics (15.12.2017)
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A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development
Wilderman, Andrea, D'haene, Eva, Baetens, Machteld, Yankee, Tara N, Winchester, Emma Wentworth, Glidden, Nicole, Roets, Ellen, Van Dorpe, Jo, Janssens, Sandra, Miller, Danny E, Galey, Miranda, Brown, Kari M, Stottmann, Rolf W, Vergult, Sarah, Weaver, K Nicole, Brugmann, Samantha A, Cox, Timothy C, Cotney, Justin
Published in Nature communications (02.01.2024)
Published in Nature communications (02.01.2024)
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Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations
Liegel, Ryan P, Michalski, Megan N, Vaidya, Sanika, Bittermann, Elizabeth, Finnerty, Erin, Menke, Chelsea A, Diegel, Cassandra R, Zhong, Zhendong A, Williams, Bart O, Stottmann, Rolf W
Published in Development (Cambridge) (01.02.2023)
Published in Development (Cambridge) (01.02.2023)
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
Magini, Pamela, Smits, Daphne J., Vandervore, Laura, Schot, Rachel, Columbaro, Marta, Kasteleijn, Esmee, van der Ent, Mees, Palombo, Flavia, Lequin, Maarten H., Dremmen, Marjolein, de Wit, Marie Claire Y., Severino, Mariasavina, Divizia, Maria Teresa, Striano, Pasquale, Ordonez-Herrera, Natalia, Alhashem, Amal, Al Fares, Ahmed, Al Ghamdi, Malak, Rolfs, Arndt, Bauer, Peter, Demmers, Jeroen, Verheijen, Frans W., Wilke, Martina, van Slegtenhorst, Marjon, van der Spek, Peter J., Seri, Marco, Jansen, Anna C., Stottmann, Rolf W., Hufnagel, Robert B., Hopkin, Robert J., Aljeaid, Deema, Wiszniewski, Wojciech, Gawlinski, Pawel, Laure-Kamionowska, Milena, Alkuraya, Fowzan S., Akleh, Hanah, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G., Zaki, Maha S., Brunetti-Pierri, Nicola, Cappuccio, Gerarda, Davidov, Bella, Basel-Salmon, Lina, Bazak, Lily, Shahar, Noa Ruhrman, Bertoli-Avella, Aida, Mirzaa, Ghayda M., Dobyns, William B., Pippucci, Tommaso, Fornerod, Maarten, Mancini, Grazia M.S.
Published in American journal of human genetics (03.10.2019)
Published in American journal of human genetics (03.10.2019)
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Mutation mapping and identification by whole-genome sequencing
Leshchiner, Ignaty, Alexa, Kristen, Kelsey, Peter, Adzhubei, Ivan, Austin-Tse, Christina A, Cooney, Jeffrey D, Anderson, Heidi, King, Matthew J, Stottmann, Rolf W, Garnaas, Maija K, Ha, Seungshin, Drummond, Iain A, Paw, Barry H, North, Trista E, Beier, David R, Goessling, Wolfram, Sunyaev, Shamil R
Published in Genome research (01.08.2012)
Published in Genome research (01.08.2012)
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THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia
Turbe-Doan, Annick, Shah, Jagesh V, Stottmann, Rolf W, Chesebro, Allyson L, Haycraft, Courtney J, Yoder, Bradley K, Qiu, Haiyan, Beier, David R, Tran, Pamela V, Besschetnova, Tatiana Y, Herron, Bruce J, Scherz, Paul J
Published in Nature genetics (01.04.2008)
Published in Nature genetics (01.04.2008)
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Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice
Li, Zhuo, Peng, Yanyan, Hufnagel, Robert B, Hu, Yueh-Chiang, Zhao, Chuntao, Queme, Luis F, Khuchua, Zaza, Driver, Ashley M, Dong, Fei, Lu, Q Richard, Lindquist, Diana M, Jankowski, Michael P, Stottmann, Rolf W, Kao, Winston W Y, Huang, Taosheng
Published in Human molecular genetics (01.10.2017)
Published in Human molecular genetics (01.10.2017)
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The society for craniofacial genetics and developmental biology 46th annual meeting
Brugmann, Samantha A., Clouthier, David E., Fantauzzo, Katherine A., Harris, Matthew P., Jeong, Juhee, Saint‐Jeannet, Jean‐Pierre, Stottmann, Rolf W., Merrill, Amy E.
Published in American journal of medical genetics. Part A (01.08.2024)
Published in American journal of medical genetics. Part A (01.08.2024)
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