Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort
Rochtus, Anne, Olson, Heather E., Smith, Lacey, Keith, Louisa G., El Achkar, Christelle, Taylor, Alan, Mahida, Sonal, Park, Meredith, Kelly, McKenna, Shain, Catherine, Rockowitz, Shira, Rosen Sheidley, Beth, Poduri, Annapurna
Published in Epilepsia (Copenhagen) (01.02.2020)
Published in Epilepsia (Copenhagen) (01.02.2020)
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A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy
Ni, Min, Afroze, Bushra, Xing, Chao, Pan, Chunxiao, Shao, Yanqiu, Cai, Ling, Cantarel, Brandi L, Pei, Jimin, Grishin, Nick V, Hewson, Stacy, Knight, Devon, Mahida, Sonal, Michel, Donnice, Tarnopolsky, Mark, Poduri, Annapurna, Rotenberg, Alexander, Sondheimer, Neal, DeBerardinis, Ralph J
Published in Genetics in medicine (01.05.2021)
Published in Genetics in medicine (01.05.2021)
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Asselin, Laure, Rivera Alvarez, José, Heide, Solveig, Bonnet, Camille S, Tilly, Peggy, Vitet, Hélène, Weber, Chantal, Bacino, Carlos A, Baranaño, Kristin, Chassevent, Anna, Dameron, Amy, Faivre, Laurence, Hanchard, Neil A, Mahida, Sonal, McWalter, Kirsty, Mignot, Cyril, Nava, Caroline, Rastetter, Agnès, Streff, Haley, Thauvin-Robinet, Christel, Weiss, Marjan M, Zapata, Gladys, Zwijnenburg, Petra J G, Saudou, Frédéric, Depienne, Christel, Golzio, Christelle, Héron, Delphine, Godin, Juliette D
Published in Nature communications (15.05.2020)
Published in Nature communications (15.05.2020)
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KCNQ2‐DEE: developmental or epileptic encephalopathy?
Berg, Anne T., Mahida, Sonal, Poduri, Annapurna
Published in Annals of clinical and translational neurology (01.03.2021)
Published in Annals of clinical and translational neurology (01.03.2021)
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Journal Article
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L -Related Syndromic Neurodevelopmental Disorder
Cordova, Ineke, Blesson, Alyssa, Savatt, Juliann M, Sveden, Abigail, Mahida, Sonal, Hazlett, Heather, Rooney Riggs, Erin, Chopra, Maya
Published in Genes (28.03.2024)
Published in Genes (28.03.2024)
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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
Kim, Hyung-Goo, Rosenfeld, Jill A, Scott, Daryl A, Bénédicte, Gerard, Labonne, Jonathan D, Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des Portes, Vincent, Bruel, Ange-Line, Sorlin, Arthur, Xia, Fan, Capri, Yline, Muller, Eric, McKnight, Dianalee, Torti, Erin, Rüschendorf, Franz, Hummel, Oliver, Islam, Zeyaul, Kolatkar, Prasanna R, Layman, Lawrence C, Ryu, Duchwan, Kong, Il-Keun, Madan-Khetarpal, Suneeta, Kim, Cheol-Hee
Published in Molecular autism (22.10.2019)
Published in Molecular autism (22.10.2019)
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Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings
McGraw, Christopher M., Mahida, Sonal, Jayakar, Parul, Koh, Hyun Yong, Taylor, Alan, Resnick, Trevor, Rodan, Lance, Schwartz, Marc A., Ejaz, Ayesha, Sankaran, Vijay G., Berry, Gerard, Poduri, Annapurna
Published in Annals of clinical and translational neurology (01.03.2021)
Published in Annals of clinical and translational neurology (01.03.2021)
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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Srivastava, Siddharth, Love-Nichols, Jamie A, Dies, Kira A, Ledbetter, David H, Martin, Christa L, Chung, Wendy K, Firth, Helen V, Frazier, Thomas, Hansen, Robin L, Prock, Lisa, Brunner, Han, Hoang, Ny, Scherer, Stephen W, Sahin, Mustafa, Miller, David T
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Expansion of the Genotypic and Phenotypic Spectrum of IASH1L/I-Related Syndromic Neurodevelopmental Disorder
Cordova, Ineke, Blesson, Alyssa, Savatt, Juliann M, Sveden, Abigail, Mahida, Sonal, Hazlett, Heather, Rooney Riggs, Erin, Chopra, Maya
Published in Genes (01.04.2024)
Published in Genes (01.04.2024)
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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome
Dohrn, Maike F, Rebelo, Adriana P, Srivastava, Siddharth, Cappuccio, Gerarda, Smigiel, Robert, Malhotra, Alka, Basel, Donald, van de Laar, Ingrid, Neuteboom, Rinze Frederik, Aarts-Tesselaar, Coranne, Mahida, Sonal, Brunetti-Pierri, Nicola, Taft, Ryan J, Züchner, Stephan
Published in Neurology (15.03.2022)
Published in Neurology (15.03.2022)
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A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism
Nguyen, Thi Tuyet Mai, Mahida, Sonal, Smith‐Hicks, Constance, Campeau, Philippe M.
Published in Human mutation (01.06.2018)
Published in Human mutation (01.06.2018)
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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Cheng, Hanyin, Dharmadhikari, Avinash V., Varland, Sylvia, Ma, Ning, Domingo, Deepti, Kleyner, Robert, Rope, Alan F., Yoon, Margaret, Stray-Pedersen, Asbjørg, Posey, Jennifer E., Crews, Sarah R., Eldomery, Mohammad K., Akdemir, Zeynep Coban, Lewis, Andrea M., Sutton, Vernon R., Rosenfeld, Jill A., Conboy, Erin, Agre, Katherine, Xia, Fan, Walkiewicz, Magdalena, Longoni, Mauro, High, Frances A., van Slegtenhorst, Marjon A., Mancini, Grazia M.S., Finnila, Candice R., van Haeringen, Arie, den Hollander, Nicolette, Ruivenkamp, Claudia, Naidu, Sakkubai, Mahida, Sonal, Palmer, Elizabeth E., Murray, Lucinda, Lim, Derek, Jayakar, Parul, Parker, Michael J., Giusto, Stefania, Stracuzzi, Emanuela, Romano, Corrado, Beighley, Jennifer S., Bernier, Raphael A., Küry, Sébastien, Nizon, Mathilde, Corbett, Mark A., Shaw, Marie, Gardner, Alison, Barnett, Christopher, Armstrong, Ruth, Kassahn, Karin S., Van Dijck, Anke, Vandeweyer, Geert, Kleefstra, Tjitske, Schieving, Jolanda, Jongmans, Marjolijn J., de Vries, Bert B.A., Pfundt, Rolph, Kerr, Bronwyn, Rojas, Samantha K., Boycott, Kym M., Person, Richard, Willaert, Rebecca, Eichler, Evan E., Kooy, R. Frank, Yang, Yaping, Wu, Joseph C., Lupski, James R., Arnesen, Thomas, Cooper, Gregory M., Chung, Wendy K., Gecz, Jozef, Stessman, Holly A.F., Meng, Linyan, Lyon, Gholson J.
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y, Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M, Gunay-Aygun, Meral, Muriello, Michael J, Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G, Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl A A P, Oegema, Renske, Mitchell, Wendy G, Pierson, Tyler Mark, Andrews, Marisa V, Willing, Marcia C, Rodan, Lance H, Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H, Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M, Hashem, Mais O, AlSayed, Moeenaldeen D, Abdulrahim, Maha M, Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel A H, Faqeih, Eissa A, Asmari, Ali Al, Algain, Sulwan M, Jad, Lamyaa A, Aldhalaan, Hesham M, Helbig, Ingo, Koolen, David A, Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E, Klee, Eric W, Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A, Stewart, James C, Claridge-Chang, Adam, Lefeber, Dirk J, Alkuraya, Fowzan S, Mathuru, Ajay S, Venkatesh, Byrappa, Barycki, Joseph J, Simpson, Melanie A, Jamuar, Saumya S, Schöls, Ludger, Reversade, Bruno
Published in Nature communications (30.01.2020)
Published in Nature communications (30.01.2020)
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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development
Woerden, Geeske M., Bos, Melanie, Konink, Charlotte, Distel, Ben, Avagliano Trezza, Rossella, Shur, Natasha E., Barañano, Kristin, Mahida, Sonal, Chassevent, Anna, Schreiber, Allison, Erwin, Angelika L., Gripp, Karen W., Rehman, Fatima, Brulleman, Saskia, McCormack, Róisín, Geus, Gwynna, Kalsner, Louisa, Sorlin, Arthur, Bruel, Ange‐Line, Koolen, David A., Gabriel, Melissa K., Rossi, Mari, Fitzpatrick, David R., Wilkie, Andrew O.M., Calpena, Eduardo, Johnson, David, Brooks, Alice, Slegtenhorst, Marjon, Fleischer, Julie, Groepper, Daniel, Lindstrom, Kristin, Innes, A. Micheil, Goodwin, Allison, Humberson, Jennifer, Noyes, Amanda, Langley, Katherine G., Telegrafi, Aida, Blevins, Amy, Hoffman, Jessica, Guillen Sacoto, Maria J., Juusola, Jane, Monaghan, Kristin G., Punj, Sumit, Simon, Marleen, Pfundt, Rolph, Elgersma, Ype, Kleefstra, Tjitske
Published in Human mutation (01.04.2021)
Published in Human mutation (01.04.2021)
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Expansion of the clinical spectrum associated with AARS2‐related disorders
Srivastava, Siddharth, Butala, Ankur, Mahida, Sonal, Richter, John, Mu, Weiyi, Poretti, Andrea, Vernon, Hilary, VanGerpen, Jay, Atwal, Paldeep S., Middlebrooks, Erik H., Zee, David S., Naidu, SakkuBai
Published in American journal of medical genetics. Part A (01.08.2019)
Published in American journal of medical genetics. Part A (01.08.2019)
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Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications
Deshwar, Ashish R, Cytrynbaum, Cheryl, Murthy, Harsha, Zon, Jessica, Chitayat, David, Volpatti, Jonathan, Newbury-Ecob, Ruth, Ellard, Sian, Allen, Hana Lango, Yu, Emily P, Noche, Ramil, Walker, Suzi, Scherer, Stephen W, Mahida, Sonal, Elitt, Christopher M, Nicolas, Gaël, Goldenberg, Alice, Saugier-Veber, Pascale, Lecoquierre, Francois, Dabaj, Ivana, Meddaugh, Hannah, Marble, Michael, Keppler-Noreuil, Kim M, Drayson, Lucy, Barañano, Kristin W, Chassevent, Anna, Agre, Katie, Létard, Pascaline, Bilan, Frederic, Le Guyader, Gwenaël, Laquerrière, Annie, Ramsey, Keri, Henderson, Lindsay, Brady, Lauren, Tarnopolsky, Mark, Bainbridge, Matthew, Friedman, Jennifer, Capri, Yline, Athayde, Larissa, Kok, Fernando, Gurgel-Giannetti, Juliana, Ramos, Luiza L P, Blaser, Susan, Dowling, James J, Weksberg, Rosanna
Published in Brain (London, England : 1878) (01.06.2023)
Published in Brain (London, England : 1878) (01.06.2023)
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Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions
Li, Xin, Nusbaum, Rachel, Smith‐Hicks, Constance, Jamal, Leila, Dixon, Shannan, Mahida, Sonal
Published in Journal of genetic counseling (01.04.2019)
Published in Journal of genetic counseling (01.04.2019)
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Journal Article
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
Platzer, Konrad, Sticht, Heinrich, Edwards, Stacey L., Allen, William, Angione, Kaitlin M., Bonati, Maria T., Brasington, Campbell, Cho, Megan T., Demmer, Laurie A., Falik-Zaccai, Tzipora, Gamble, Candace N., Hellenbroich, Yorck, Iascone, Maria, Kok, Fernando, Mahida, Sonal, Mandel, Hanna, Marquardt, Thorsten, McWalter, Kirsty, Panis, Bianca, Pepler, Alexander, Pinz, Hailey, Ramos, Luiza, Shinde, Deepali N., Smith-Hicks, Constance, Stegmann, Alexander P.A., Stöbe, Petra, Stumpel, Constance T.R.M., Wilson, Carolyn, Lemke, Johannes R., Di Donato, Nataliya, Miller, Kenneth G., Jamra, Rami
Published in American journal of human genetics (07.02.2019)
Published in American journal of human genetics (07.02.2019)
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Clinical variants paired with phenotype: A rich resource for brain gene curation
Chopra, Maya, Savatt, Juliann M., Bingaman, Taylor I., Good, Molly E., Morgan, Alexis, Cooney, Caitlin, Rossel, Allison M., VanHoute, Bryanna, Cordova, Ineke, Mahida, Sonal, Lanzotti, Virginia, Baldridge, Dustin, Gurnett, Christina A., Piven, Joseph, Hazlett, Heather, Pomeroy, Scott L., Sahin, Mustafa, Payne, Philip R.O., Riggs, Erin Rooney, Constantino, John N., Gropman, A., Smith-Hicks, C.L., Neul, J., Agosto, J.A. Martinez, German, K., Izumi, K., Abbeduto, L., Dawalt, L., Wangler, M., Wasserstein, M., Storch, Eric A., Cohen, J.S., Samaco, R., Molholm, S., Shankar, S., Srivastava, S., Walkley, S., Sveden, A., Dies, K., Gupta, Aditi, Oh, Inez, Hauck, Rachel
Published in Genetics in medicine (01.03.2024)
Published in Genetics in medicine (01.03.2024)
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