Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Authors: Hiatt, Susan M., Trajkova, Slavica, Sebastiano, Matteo Rossi, Partridge, E. Christopher, Abidi, Fatima E., Anderson, Ashlyn, Ansar, Muhammad, Antonarakis, Stylianos E., Azadi, Azadeh, Bachmann-Gagescu, Ruxandra, Bartuli, Andrea, Benech, Caroline, Berkowitz, Jennifer L., Betti, Michael J., Brusco, Alfredo, Cannon, Ashley, Caron, Giulia, Chen, Yanmin, Cochran, Meagan E., Coleman, Tanner F., Crenshaw, Molly M., Cuisset, Laurence, Curry, Cynthia J., Darvish, Hossein, Demirdas, Serwet, Descartes, Maria, Douglas, Jessica, Dyment, David A., Elloumi, Houda Zghal, Ermondi, Giuseppe, Faoucher, Marie, Farrow, Emily G., Felker, Stephanie A., Fisher, Heather, Hurst, Anna C.E., Joset, Pascal, Kelly, Melissa A., Kmoch, Stanislav, Leadem, Benjamin R., Lyons, Michael J., Macchiaiolo, Marina, Magner, Martin, Mandrile, Giorgia, Mattioli, Francesca, McEown, Megan, Meadows, Sarah K., Medne, Livija, Meeks, Naomi J.L., Montgomery, Sarah, Napier, Melanie P., Natowicz, Marvin, Newberry, Kimberly M., Niceta, Marcello, Noskova, Lenka, Nowak, Catherine B., Noyes, Amanda G., Osmond, Matthew, Prijoles, Eloise J., Pugh, Jada, Pullano, Verdiana, Quélin, Chloé, Rahimi-Aliabadi, Simin, Rauch, Anita, Redon, Sylvia, Reymond, Alexandre, Schwager, Caitlin R., Sellars, Elizabeth A., Scheuerle, Angela E., Shukarova-Angelovska, Elena, Skraban, Cara, Stolerman, Elliot, Sullivan, Bonnie R., Tartaglia, Marco, Thiffault, Isabelle, Uguen, Kevin, Umaña, Luis A., van Bever, Yolande, van der Crabben, Saskia N., van Slegtenhorst, Marjon A., Waisfisz, Quinten, Washington, Camerun, Rodan, Lance H., Myers, Richard M., Cooper, Gregory M.

Source: American journal of human genetics. 110(2):215-227

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183952111.0x000001&indx=1&recIds=ETOCvdc_100183952111.0x000001

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Authors: Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J.

Source: In Genetics in Medicine February 2023 25(2)

Phenotypic continuum of NFU1‐related disorders

Authors: Kaiyrzhanov, Rauan, Zaki, Maha S., Lau, Tracy, Sen, Sambuddha, Azizimalamiri, Reza, Zamani, Mina, Sayin, Gözde Yeşil, Hilander, Taru, Efthymiou, Stephanie, Chelban, Viorica, Brown, Ruth, Thompson, Kyle, Scarano, Maria Irene, Ganesh, Jaya, Koneev, Kairgali, Gülaçar, Ismail Musab, Person, Richard, Sadykova, Dinara, Maidyrov, Yerdan, Seifi, Tahereh, Zadagali, Aizhan, Bernard, Geneviève, Allis, Katrina, Elloumi, Houda Zghal, Lindy, Amanda, Taghiabadi, Ehsan, Verma, Sumit, Logan, Rachel, Kirmse, Brian, Bai, Renkui, Khalaf, Shaimaa M., Abdel‐Hamid, Mohamed S., Sedaghat, Alireza, Shariati, Gholamreza, Issa, Mahmoud, Zeighami, Jawaher, Elbendary, Hasnaa M., Brown, Garry, Taylor, Robert W., Galehdari, Hamid, Gleeson, Joseph J., Carroll, Christopher J., Cowan, James A., Moreno‐De‐Luca, Andres, Houlden, Henry, Maroofian, Reza

Source: Annals of clinical and translational neurology. 9(12):2025-2035

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168193948.0x000001&indx=1&recIds=ETOCvdc_100168193948.0x000001

Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome

Authors: Steele, Jacqueline L., Morrow, Michelle M., Sarnat, Harvey B., Alkhunaizi, Ebba, Brandt, Tracy, Chitayat, David A., DeFilippo, Colette P., Douglas, Ganka V., Dubbs, Holly A., Elloumi, Houda Zghal, Glassford, Megan R., Hannibal, Mark C., Héron, Bénédicte, Kim, Linda E., Marco, Elysa J., Mignot, Cyril, Monaghan, Kristin G., Myers, Kenneth A., Parikh, Sumit, Quinonez, Shane C., Rajabi, Farrah, Shankar, Suma P., Shinawi, Marwan S., van de Kamp, Jiddeke J.P., Veerapandiyan, Aravindhan, Waldman, Amy T., Graf, William D.

Source: Pediatric neurology. 126:65-73

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152305803.0x000001&indx=1&recIds=ETOCvdc_100152305803.0x000001

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Authors: Weerts, Marjolein J.A., Lanko, Kristina, Guzmán-Vega, Francisco J., Jackson, Adam, Ramakrishnan, Reshmi, Cardona-Londoño, Kelly J., Peña-Guerra, Karla A., van Bever, Yolande, van Paassen, Barbara W., Kievit, Anneke, van Slegtenhorst, Marjon, Allen, Nicholas M., Kehoe, Caroline M., Robinson, Hannah K., Pang, Lewis, Banu, Selina H., Zaman, Mashaya, Efthymiou, Stephanie, Houlden, Henry, Järvelä, Irma, Lauronen, Leena, Määttä, Tuomo, Schrauwen, Isabelle, Leal, Suzanne M., Ruivenkamp, Claudia A.L., Barge-Schaapveld, Daniela Q.C.M., Peeters-Scholte, Cacha M.P.C.D., Galehdari, Hamid, Mazaheri, Neda, Sisodiya, Sanjay M., Harrison, Victoria, Sun, Angela, Thies, Jenny, Pedroza, Luis Alberto, Lara-Taranchenko, Yana, Chinn, Ivan K., Lupski, James R., Garza-Flores, Alexandra, McGlothlin, Jeffery, Yang, Lin, Huang, Shaoping, Wang, Xiaodong, Jewett, Tamison, Rosso, Gretchen, Lin, Xi, Mohammed, Shehla, Merritt, J. Lawrence, II, Mirzaa, Ghayda M., Timms, Andrew E., Scheck, Joshua, Elting, Mariet W., Polstra, Abeltje M., Schenck, Lauren, Ruzhnikov, Maura R.Z., Vetro, Annalisa, Montomoli, Martino, Guerrini, Renzo, Koboldt, Daniel C., Mosher, Theresa Mihalic, Pastore, Matthew T., McBride, Kim L., Peng, Jing, Pan, Zou, Willemsen, Marjolein, Koning, Susanne, Turnpenny, Peter D., de Vries, Bert B.A., Gilissen, Christian, Pfundt, Rolph, Lees, Melissa, Braddock, Stephen R., Klemp, Kara C., Vansenne, Fleur, van Gijn, Marielle E., Quindipan, Catherine, Deardorff, Matthew A., Hamm, J. Austin, Putnam, Abbey M., Baud, Rebecca, Walsh, Laurence, Lynch, Sally A., Baptista, Julia, Person, Richard E., Monaghan, Kristin G., Crunk, Amy, Keller-Ramey, Jennifer, Reich, Adi, Elloumi, Houda Zghal, Alders, Marielle, Kerkhof, Jennifer, McConkey, Haley, Haghshenas, Sadegheh, Maroofian, Reza, Sadikovic, Bekim, Banka, Siddharth, Arold, Stefan T., Barakat, Tahsin Stefan

Source: In Genetics in Medicine November 2021 23(11):2122-2137

Chromatin assembly factor subunit CHAF1Aas a monogenic cause for oculo-auriculo-vertebral spectrum

Authors: Pingault, Véronique, Neiva-Vaz, Cécilia, de Oliveira, Judite, Martínez-Gil, Núria, Lasa-Aranzasti, Amaia, Campos, Berta, Lakeman, Inge M. M., Nibbeling, Esther A. R., Stoeva, Radka, Jayakar, Parul, Dabir, Tabib, Elloumi, Houda Zghal, Strong, Alanna, Hanein, Sylvain, Picard, Arnaud, Ochsenbein, Francoise, Blanc, Pierre, Amiel, Jeanne

Source: European Journal of Human Genetics: EJHG; January 2025, Vol. 33 Issue: 1 p131-136, 6p

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.

Authors: Garber, Alison¹, Weingarten, Lisa S.¹, Abreu, Nicolas J.², Elloumi, Houda Zghal³, Haack, Tobias⁴, Hildebrant, Clara⁵, Martínez‐Gil, Núria^6,7, Mathews, Jennifer⁵, Müller, Amelie Johanna⁴, Valenzuela Palafoll, Irene^6,7, Steigerwald, Connolly², Chung, Wendy K.⁸, wendy.chung@childrens.harvard.edu

Source: American Journal of Medical Genetics. Part A; Jul2024, Vol. 194 Issue 7, p1-10, 10p

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants.

Authors: Sewani, Soha¹, Azamian, Mahshid S.^1,2, Mendelsohn, Bryce A.³, Mau‐Them, Frederic Tran^4,5, Réda, Manon^6,7,8,9, Nambot, Sophie^10,11, Isidor, Bertrand^12,13, van der Smagt, Jasper J.¹⁴, Shen, Joseph J.¹⁵, Shillington, Amelle^16,17,18, White, Lori¹⁶, Elloumi, Houda Zghal¹⁹, Baker, Peter R.²⁰, Svihovec, Shayna²⁰, Brown, Kathleen²⁰, Koopman‐Keemink, Yvonne²¹, Hoffer, Mariette J. V.²², Lakeman, Inge M. M.²², Brischoux‐Boucher, Elise²³, Kinali, Maria²⁴

Source: American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-12, 12p

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Authors: de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske

Source: In Genetics in Medicine November 2023 25(11)

The commercial genetic testing landscape for Parkinson's disease

Authors: Brice, Alexis, Kumeh, Amasi, West, Andrew B., Singleton, Andrew, Naito, Anna, Schüle, Birgitt, Fiske, Brian, Gabbert, Carolin, Klein, Christine, Marras, Connie, Blauwendraat, Cornelis, Thaxton, Courtney, Alessi, Dario, Craig, David, Fon, Edward A., Forbes, Emily, Valente, Enza Maria, Sammler, Esther, Chao, Gill, Riboldi, Giulietta, Elloumi, Houda Zghal, Mata, Ignacio, Beck, James C., Fong, Jamie C., Corvol, Jean-Christophe, Schulze, Jeanine, Verbrugge, Jennifer, Shulman, Joshua, Peterschmitt, Judith, Marder, Karen, Lohmann, Katja, Nudelman, Kelly, Lange, Lara, Cook, Lola, Cookson, Mark R., Nance, Martha, Farrer, Matthew, Grigorian, Melina, Schwarzschild, Michael A., Mencacci, Niccolo, Ross, Owen, Mistry, Pramod, Hodges, Priscila, Blake, Rachel, Saunders-Pullman, Rachel, Alcalay, Roy N., Sardi, S. Pablo, Farhan, Sali, Strom, Samuel, Padmanabhan, Shalini, Mohan, Shruthi, Longerich, Simonne, Schneider, Susanne, Lesage, Suzanne, Bardakjian, Tanya, Foroud, Tatiana, Courtin, Thomas, Tropea, Thomas, Liu, Yunlong, Gan-Or, Ziv, Shalash, Ali S., Hall, Anne, Thaler, Avner, Sue, Carolyn M., Mascalzoni, Deborah, Raymond, Deborah, Gatto, Emilia Mabel, Pal, Gian D., König, Inke, Novakovic, Ivana, Merello, Marcelo, Salari, Mehri, Mencacci, Niccolo Emanuele, Hattori, Nobutaka, Suchowersky, Oksana, Bardien, Soraya, Chung, Sun Ju, Simuni, Tatyana, Lynch, Timothy, Bonifati, Vincenzo, Marder, Karen S.

Source: In Parkinsonism and Related Disorders November 2021 92:107-111

Complex regulation of human cathelicidin gene expression: Novel splice variants and 5′UTR negative regulatory element

Authors: Elloumi, Houda Zghal, Holland, Steven M.

Source: In Molecular Immunology January 2008 45(1):204-217

Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Authors: de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske

Source: Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2051-2064, 14p

Missense variants in ANKRD11cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Authors: de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske

Source: Genetics in Medicine; November 2023, Vol. 25 Issue: 11

Diagnostic Assays for Chronic Granulomatous Disease and Other Neutrophil Disorders.

Authors: Elloumi, Houda Zghal, Holland, Steven M.

Source: Neutrophil Methods & Protocols (9781627038447); 2014, p517-535, 19p

Diagnostic Assays for Chronic Granulomatous Disease and Other Neutrophil Disorders.

Authors: Walker, John M., Quinn, Mark T., DeLeo, Frank R., Bokoch, Gary M., Elloumi, Houda Zghal, Holland, Steven M.

Source: Neutrophil Methods & Protocols; 2007, p505-523, 19p

Biallelic variants in OGDHencoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Authors: Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J.

Source: Genetics in Medicine; February 2023, Vol. 25 Issue: 2

S1756 The Bzip Protein E4bp4 Mediates IL-10 Regulation of Intestinal Macrophage Tolerance to the Enteric Microbiota

Authors: Kobayashi, Taku, Matsuoka, Katsuyoshi, Sheikh, Shehzad Z., Elloumi, Houda Zghal, Plevy, Scott E.

Source: In Gastroenterology 2010 138(5) Supplement 1:S

Early-onset phenotype of bi-allelic GRN mutations.

Authors: Neuray, Caroline^1,2, c.neuray@ucl.ac.uk, Sultan, Tipu³, Alvi, Javeira Raza³, Franca, Marcondes C⁴, Assmann, Birgit⁵, Wagner, Matias^6,7, Canafoglia, Laura⁸, Franceschetti, Silvana⁸, Rossi, Giacomina⁹, Santana, Isabel^10,11, Macario, Maria C^10,11, Almeida, Maria R^11,12, Kamate, Mahesh¹³, Parikh, Sumit¹⁴, Elloumi, Houda Zghal¹⁵, Murphy, David¹, Efthymiou, Stephanie¹, Maroofian, Reza¹, Houlden, Henry¹

Source: Brain: A Journal of Neurology; Feb2021, Vol. 144 Issue 2, pe22-e22, 1p

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