A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
Lecoquierre, François, Punt, A. Mattijs, Ebstein, Frédéric, Wallaard, Ilse, Verhagen, Rob, Studencka-Turski, Maja, Duffourd, Yannis, Moutton, Sébastien, Tran Mau-Them, Frédédic, Philippe, Christophe, Dean, John, Tennant, Stephen, Brooks, Alice S., van Slegtenhorst, Marjon A., Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, England, Eleina M., Martinez Ojeda, Mayra, Engle, Elizabeth C., Robson, Caroline D., Morrow, Michelle, Innes, A. Micheil, Lamont, Ryan, Sanderson, Matthea, Krüger, Elke, Thauvin, Christel, Distel, Ben, Faivre, Laurence, Elgersma, Ype, Vitobello, Antonio
Published in Genetics in medicine (01.06.2024)
Published in Genetics in medicine (01.06.2024)
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Journal Article
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
Jurgens, Julie, Ling, Hua, Hetrick, Kurt, Pugh, Elizabeth, Schiettecatte, Francois, Doheny, Kimberly, Hamosh, Ada, Avramopoulos, Dimitri, Valle, David, Sobreira, Nara
Published in Genetics in medicine (01.10.2015)
Published in Genetics in medicine (01.10.2015)
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Journal Article
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder
Natera‐de Benito, Daniel, Jurgens, Julie A., Yeung, Alison, Zaharieva, Irina T., Manzur, Adnan, DiTroia, Stephanie P., Di Gioia, Silvio Alessandro, Pais, Lynn, Pini, Veronica, Barry, Brenda J., Chan, Wai‐Man, Elder, James E., Christodoulou, John, Hay, Eleanor, England, Eleina M., Munot, Pinki, Hunter, David G., Feng, Lucy, Ledoux, Danielle, O'Donnell‐Luria, Anne, Phadke, Rahul, Engle, Elizabeth C., Sarkozy, Anna, Muntoni, Francesco
Published in Human mutation (01.04.2022)
Published in Human mutation (01.04.2022)
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Journal Article
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Jurgens, Julie A, Barry, Brenda J, Lemire, Gabrielle, Chan, Wai-Man, Whitman, Mary C, Shaaban, Sherin, Robson, Caroline D, MacKinnon, Sarah, England, Eleina M, McMillan, Hugh J, Kelly, Christopher, Pratt, Brandon M, O'Donnell-Luria, Anne, MacArthur, Daniel G, Boycott, Kym M, Hunter, David G, Engle, Elizabeth C
Published in European journal of human genetics : EJHG (01.05.2021)
Published in European journal of human genetics : EJHG (01.05.2021)
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Journal Article
MAGEL2‐related disorders: A study and case series
Patak, Jameson, Gilfert, James, Byler, Melissa, Neerukonda, Vamsee, Thiffault, Isabelle, Cross, Laura, Amudhavalli, Shivarajan, Pacio‐Miguez, Marta, Palomares‐Bralo, Maria, Garcia‐Minaur, Sixto, Santos‐Simarro, Fernando, Powis, Zoe, Alcaraz, Wendy, Tang, Sha, Jurgens, Julie, Barry, Brenda, England, Eleina, Engle, Elizabeth, Hess, Jonathon, Lebel, Robert R.
Published in Clinical genetics (01.12.2019)
Published in Clinical genetics (01.12.2019)
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Journal Article
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes
Florwick, Alyssa, Dharmaraj, Tejas, Jurgens, Julie, Valle, David, Wilson, Katherine L
Published in Frontiers in genetics (15.06.2017)
Published in Frontiers in genetics (15.06.2017)
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Journal Article
Dopamine D₁-like receptors regulate the α₁A-adrenergic receptor in human renal proximal tubule cells and D₁-like dopamine receptor knockout mice
Ennis, Riley Charles, Asico, Laureano D, Armando, Ines, Yang, Jian, Feranil, Jun B, Jurgens, Julie A, Escano, Jr, Crisanto S, Yu, Peiying, Wang, Xiaoyan, Sibley, David R, Jose, Pedro A, Villar, Van Anthony M
Published in American journal of physiology. Renal physiology (01.12.2014)
Published in American journal of physiology. Renal physiology (01.12.2014)
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Journal Article
Mechanisms of Fetal Programming in Hypertension
Jose, Pedro A., Villar, Van Anthony M., Ennis, Riley C., Evans, Sarah A., Jurgens, Julie A., Jones, John Edward
Published in International journal of pediatrics (01.01.2012)
Published in International journal of pediatrics (01.01.2012)
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Journal Article
SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome
Schossig, Anna, Bloch-Zupan, Agnès, Lussi, Adrian, Wolf, Nicole I, Raskin, Salmo, Cohen, Monika, Giuliano, Fabienne, Jurgens, Julie, Krabichler, Birgit, Koolen, David A, de Macena Sobreira, Nara Lygia, Maurer, Elisabeth, Muller-Bolla, Michèle, Penzien, Johann, Zschocke, Johannes, Kapferer-Seebacher, Ines
Published in Journal of medical genetics (01.01.2017)
Published in Journal of medical genetics (01.01.2017)
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Journal Article
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex
You, Jing, Sobreira, Nara L., Gable, Dustin L., Jurgens, Julie, Grange, Dorothy K., Belnap, Newell, Siniard, Ashley, Szelinger, Szabolcs, Schrauwen, Isabelle, Richholt, Ryan F., Vallee, Stephanie E., Dinulos, Mary Beth P., Valle, David, Armanios, Mary, Hoover-Fong, Julie
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Hoover-Fong, Julie, Sobreira, Nara, Jurgens, Julie, Modaff, Peggy, Blout, Carrie, Moser, Ann, Kim, Ok-Hwa, Cho, Tae-Joon, Cho, Sung Yoon, Kim, Sang Jin, Jin, Dong-Kyu, Kitoh, Hiroshi, Park, Woong-Yang, Ling, Hua, Hetrick, Kurt N., Doheny, Kimberly F., Valle, David, Pauli, Richard M.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Journal Article
Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type
Jurgens, Julie, Sobreira, Nara, Modaff, Peggy, Reiser, Catherine A., Seo, Soo Hyun, Seong, Moon-Woo, Park, Sung Sup, Kim, Ok Hwa, Cho, Tae-Joon, Pauli, Richard M.
Published in Human mutation (01.10.2015)
Published in Human mutation (01.10.2015)
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Journal Article
Phenotype delineation of ZNF462 related syndrome
Kruszka, Paul, Hu, Tommy, Hong, Sungkook, Signer, Rebecca, Cogné, Benjamin, Isidor, Betrand, Mazzola, Sarah E., Giltay, Jacques C., Gassen, Koen L. I., England, Eleina M., Pais, Lynn, Ockeloen, Charlotte W., Sanchez‐Lara, Pedro A., Kinning, Esther, Adams, Darius J., Treat, Kayla, Torres‐Martinez, Wilfredo, Bedeschi, Maria F., Iascone, Maria, Blaney, Stephanie, Bell, Oliver, Tan, Tiong Y., Delrue, Marie‐Ange, Jurgens, Julie, Barry, Brenda J., Engle, Elizabeth C., Savage, Sarah K., Fleischer, Nicole, Martinez‐Agosto, Julian A., Boycott, Kym, Zackai, Elaine H., Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.10.2019)
Published in American journal of medical genetics. Part A (01.10.2019)
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Journal Article
Abstract 468: The Dopamine D 1 -like Receptors Negatively Regulate the Expression and Function of the a 1 A Adrenergic Receptor
Ennis, Riley C, Villar, Van Anthony M, Asico, Laureano D, Escano, Crisanto S, Feranil, Jun B, Jurgens, Julie A, Jones, John E, Jose, Pedro A
Published in Hypertension (Dallas, Tex. 1979) (01.09.2013)
Published in Hypertension (Dallas, Tex. 1979) (01.09.2013)
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Journal Article
Dopamine D 1 -like receptors regulate the α 1A -adrenergic receptor in human renal proximal tubule cells and D 1 -like dopamine receptor knockout mice
Ennis, Riley Charles, Asico, Laureano D., Armando, Ines, Yang, Jian, Feranil, Jun B., Jurgens, Julie A., Escano, Crisanto S., Yu, Peiying, Wang, Xiaoyan, Sibley, David R., Jose, Pedro A., Villar, Van Anthony M.
Published in American journal of physiology. Renal physiology (01.12.2014)
Published in American journal of physiology. Renal physiology (01.12.2014)
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Journal Article
Dopamine D^sub 1^-like receptors regulate the [alpha]^sub 1A^-adrenergic receptor in human renal proximal tubule cells and D^sub 1^-like dopamine receptor knockout mice
Ennis, Riley Charles, Asico, Laureano D, Armando, Ines, Yang, Jian, Feranil, Jun B, Jurgens, Julie A, Escano, Crisanto S, Yu, Peiying, Wang, Xiaoyan, Sibley, David R, Jose, Pedro A, Villar, Van Anthony M
Published in American journal of physiology. Renal physiology (01.12.2014)
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Published in American journal of physiology. Renal physiology (01.12.2014)
Journal Article
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes
Florwick, Alyssa, Dharmaraj, Tejas, Jurgens, Julie, Valle, David, Wilson, Katherine L.
Published in Frontiers in genetics (15.06.2017)
Published in Frontiers in genetics (15.06.2017)
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Journal Article
Abstract 479: A novel Interaction Between G protein-Coupled Receptor Kinase 4 and Sorting Nexin 5 in the Regulation of Dopamine D1 Receptor Phosphorylation
Villar, Van Anthony M, Armando, Ines, Jurgens, Julie A, Evans, Sarah, Ennis, Riley C, Yu, Peiying, Jose, Pedro A, Jones, John E.
Published in Hypertension (Dallas, Tex. 1979) (01.09.2012)
Published in Hypertension (Dallas, Tex. 1979) (01.09.2012)
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Journal Article