Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review by Tan, Natalie B., Stapleton, Rachel, Stark, Zornitza, Delatycki, Martin B., Yeung, Alison, Hunter, Matthew F., Amor, David J., Brown, Natasha J., Stutterd, Chloe A., McGillivray, George, Yap, Patrick, Regan, Matthew, Chong, Belinda, Fanjul Fernandez, Miriam, Marum, Justine, Phelan, Dean, Pais, Lynn S., White, Susan M., Lunke, Sebastian, Tan, Tiong Y.

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seqr: A web‐based analysis and collaboration tool for rare disease genomics by Pais, Lynn S., Snow, Hana, Weisburd, Ben, Zhang, Shifa, Baxter, Samantha M., DiTroia, Stephanie, O'Heir, Emily, England, Eleina, Chao, Katherine R., Lemire, Gabrielle, Osei‐Owusu, Ikeoluwa, VanNoy, Grace E., Wilson, Michael, Nguyen, Kevin, Arachchi, Harindra, Phu, William, Solomonson, Matthew, Mano, Stacy, O'Leary, Melanie, Lovgren, Alysia, Babb, Lawrence, Austin‐Tse, Christina A., Rehm, Heidi L., MacArthur, Daniel G., O'Donnell‐Luria, Anne

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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder by Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O’Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, O’Connell, Mitchell R.

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Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes by Zech, Michael, Kopajtich, Robert, Steinbrücker, Katja, Bris, Céline, Gueguen, Naig, Feichtinger, René G., Achleitner, Melanie T., Duzkale, Neslihan, Périvier, Maximilien, Koch, Johannes, Engelhardt, Harald, Freisinger, Peter, Wagner, Matias, Brunet, Theresa, Berutti, Riccardo, Smirnov, Dmitrii, Navaratnarajah, Tharsini, Rodenburg, Richard J.T., Pais, Lynn S, Austin‐Tse, Christina, O'Leary, Melanie, Boesch, Sylvia, Jech, Robert, Bakhtiari, Somayeh, Jin, Sheng Chih, Wilbert, Friederike, Kruer, Michael C, Wortmann, Saskia B., Eckenweiler, Matthias, Mayr, Johannes A., Distelmaier, Felix, Steinfeld, Robert, Winkelmann, Juliane, Prokisch, Holger

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ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies by Lemire, Gabrielle, Ito, Yoko A., Marshall, Aren E., Chrestian, Nicolas, Stanley, Valentina, Brady, Lauren, Tarnopolsky, Mark, Curry, Cynthia J., Hartley, Taila, Mears, Wendy, Derksen, Alexa, Rioux, Nadie, Laflamme, Nataly, Hutchison, Harrol T., Pais, Lynn S., Zaki, Maha S., Sultan, Tipu, Dane, Adrie D., Gleeson, Joseph G., Vaz, Frédéric M., Kernohan, Kristin D., Bernard, Geneviève, Boycott, Kym M.

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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy by Nascimento, Andres, Bruels, Christine C., Donkervoort, Sandra, Foley, A. Reghan, Codina, Anna, Milisenda, Jose C., Estrella, Elicia A., Li, Chengcheng, Pijuan, Jordi, Draper, Isabelle, Hu, Ying, Stafki, Seth A., Pais, Lynn S., Ganesh, Vijay S., O’Donnell-Luria, Anne, Syeda, Safoora B., Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Martorell, Loreto, Pinal-Fernandez, Iago, Lidov, Hart G. W., Mammen, Andrew L., Grau-Junyent, Josep M., Ortez, Carlos, Palau, Francesc, Ghosh, Partha S., Darras, Basil T., Jou, Cristina, Kunkel, Louis M., Hoenicka, Janet, Bönnemann, Carsten G., Kang, Peter B., Natera-de Benito, Daniel

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De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder by Dias, Caroline, Pfundt, Rolph, Kleefstra, Tjitske, Shuurs‐Hoeijmakers, Janneke, Boon, Elles M. J., Hagen, Johanna M., Zwijnenburg, Petra, Weiss, Marjan M., Keren, Boris, Mignot, Cyril, Isapof, Arnaud, Weiss, Karin, Hershkovitz, Tova, Iascone, Maria, Maitz, Silvia, Feichtinger, René G., Kotzot, Dieter, Mayr, Johannes A., Ben‐Omran, Tawfeg, Mahmoud, Laila, Pais, Lynn S., Walsh, Christopher A., Shashi, Vandana, Sullivan, Jennifer A., Stong, Nicholas, Lecoquierre, Francois, Guerrot, Anne‐Marie, Charollais, Aude, Rodan, Lance H.

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Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features by Li, Dong, Wang, Qin, Gong, Naihua N, Kurolap, Alina, Feldman, Hagit Baris, Boy, Nikolas, Brugger, Melanie, Grand, Katheryn, McWalter, Kirsty, Guillen Sacoto, Maria J, Wakeling, Emma, Hurst, Jane, March, Michael E, Bhoj, Elizabeth J, Nowaczyk, Małgorzata J M, Gonzaga-Jauregui, Claudia, Mathew, Mariam, Dava-Wala, Ashita, Siemon, Amy, Bartholomew, Dennis, Huang, Yue, Lee, Hane, Martinez-Agosto, Julian A, Schwaibold, Eva M C, Brunet, Theresa, Choukair, Daniela, Pais, Lynn S, White, Susan M, Christodoulou, John, Brown, Dana, Lindstrom, Kristin, Grebe, Theresa, Tiosano, Dov, Kayser, Matthew S, Tan, Tiong Yang, Deardorff, Matthew A, Song, Yuanquan, Hakonarson, Hakon

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy by Abou Jamra, Rami, Accogli, Andrea, Amburgey, Kimberly, Basinger, Alice A., Ceulemans, Sophia, Charles, Perrine, McRae, Jeremy F., Rajan, Diana, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Ahmed, Munaza, Anjum, Uruj, Armstrong, Ruth, Barnicoat, Angela, Bennett, Chris, Blair, Edward, Blyth, Moira, Bourdon, Louise, Brady, Angela, Burn, John, Canham, Natalie, Cilliers, Deirdre, Clayton-Smith, Jill, Coates, Andrea, Cooper, Nicola, Dabir, Tabib, Davies, Sally, Dean, John, Devlin, Gemma, Donnai, Dian, Donnelly, Carina, Evans, Karenza, Fendick, Tina, Goodship, Judith, Green, Andrew, Harrison, Lucy, Holden, Simon, Jarvis, Joanna, Johnson, Diana, Jones, Elizabeth, Kumar, V. K. Ajith, Lachlan, Katherine, Langman, Caroline, Maye, Una, McMullan, Dominic J., McWilliam, Catherine, Metcalfe, Kay, Norman, Andrew, Ogilvie, Caroline, Park, Soo-Mi, Phipps, Julie, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Ross, Alison, Sampson, Julian, Shannon, Nora, Skitt, Zara, Stewart, Fiona, Stewart, Helen, Swaminathan, Ganesh Jawahar, Taylor, Cat, Tein, Mark, Treacy, Becky, Vandersteen, Anthony, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Parker, Michael, FitzPatrick, David R., Demurger, Florence, Eiset, Saga Elise, Ferrarini, Alessandra, Haack, Tobias B., Hashim, Mona, Jonasson, Amy R., Kok, Fernando, Marcelis, Carlo L.M., McWalter, Kirsty, Mercimek-Andrews, Saadet, Person, Richard, Ramelli, Gian Paolo, Rauch, Anita, Sanchez-Valle, Amarilis, Sattar, Shifteh, Saunders, Carol, Steindl, Katharina, Syrbe, Steffen, Taylor, Jenny C., Trauner, Doris A., Vogel, Ida, Widjaja, Elysa, Zak, Jaroslav, Banka, Siddharth, Rodan, Lance H.

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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly by Chai, Guoliang, Webb, Alice, Li, Chen, Antaki, Danny, Lee, Sangmoon, Breuss, Martin W., Lang, Nhi, Stanley, Valentina, Anzenberg, Paula, Yang, Xiaoxu, Marshall, Trevor, Gaffney, Patrick, Wierenga, Klaas J., Chung, Brian Hon-Yin, Tsang, Mandy Ho-Yin, Pais, Lynn S., Lovgren, Alysia Kern, VanNoy, Grace E., Rehm, Heidi L., Mirzaa, Ghayda, Leon, Eyby, Diaz, Jullianne, Neumann, Alexander, Kalverda, Arnout P., Manfield, Iain W., Parry, David A., Logan, Clare V., Johnson, Colin A., Bonthron, David T., Valleley, Elizabeth M.A., Issa, Mahmoud Y., Abdel-Ghafar, Sherif F., Abdel-Hamid, Mohamed S., Jennings, Patricia, Zaki, Maha S., Sheridan, Eamonn, Gleeson, Joseph G.

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Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome by van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J.M., Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D.N., Barakat, Tahsin Stefan, Bebin, E. Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J., Brunet, Theresa, Brunner, Han G., Campeau, Philippe M., Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B., Hüning, Irina, Husain, Ralf A., Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C., Ockeloen, Charlotte W., Pais, Lynn S., Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M.C., Simon, Marleen E.H., Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L., de Vries, Bert B.A., Wilkins, Ella J., Willemsen, Marjolein H., Francks, Clyde, Vissers, Lisenka E.L.M., Fisher, Simon E., Kleefstra, Tjitske

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Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish by Lin, Sheng-Jia, Barbalho, Patricia G., Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T., Aubertin, Gudrun, Estrada-Veras, Juvianee I., Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L., Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S., Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Ambrose, J.C., Arumugam, P., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Caulfield, M.J., Chan, G.C., Fowler, T., Giess, A., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z., Mora, Sara, Palculict, Timothy B., Yang, Hui, Ben Fowler, Joshi, Manali, Behra, Martine, Burgess, Shawn M., Nath, Swapan K., Kenna, Margaret, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S., Haaf, Thomas, Alkuraya, Fowzan S., Gleeson, Joseph G., Varshney, Gaurav K.

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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project by Stenton, Sarah L, O'Leary, Melanie C, Lemire, Gabrielle, VanNoy, Grace E, DiTroia, Stephanie, Ganesh, Vijay S, Groopman, Emily, O'Heir, Emily, Mangilog, Brian, Osei-Owusu, Ikeoluwa, Pais, Lynn S, Serrano, Jillian, Singer-Berk, Moriel, Weisburd, Ben, Wilson, Michael W, Austin-Tse, Christina, Abdelhakim, Marwa, Althagafi, Azza, Babbi, Giulia, Bellazzi, Riccardo, Bovo, Samuele, Carta, Maria Giulia, Casadio, Rita, Coenen, Pieter-Jan, De Paoli, Federica, Floris, Matteo, Gajapathy, Manavalan, Hoehndorf, Robert, Jacobsen, Julius O B, Joseph, Thomas, Kamandula, Akash, Katsonis, Panagiotis, Kint, Cyrielle, Lichtarge, Olivier, Limongelli, Ivan, Lu, Yulan, Magni, Paolo, Mamidi, Tarun Karthik Kumar, Martelli, Pier Luigi, Mulargia, Marta, Nicora, Giovanna, Nykamp, Keith, Pejaver, Vikas, Peng, Yisu, Pham, Thi Hong Cam, Podda, Maurizio S, Rao, Aditya, Rizzo, Ettore, Saipradeep, Vangala G, Savojardo, Castrense, Schols, Peter, Shen, Yang, Sivadasan, Naveen, Smedley, Damian, Soru, Dorian, Srinivasan, Rajgopal, Sun, Yuanfei, Sunderam, Uma, Tan, Wuwei, Tiwari, Naina, Wang, Xiao, Wang, Yaqiong, Williams, Amanda, Worthey, Elizabeth A, Yin, Rujie, You, Yuning, Zeiberg, Daniel, Zucca, Susanna, Bakolitsa, Constantina, Brenner, Steven E, Fullerton, Stephanie M, Radivojac, Predrag, Rehm, Heidi L, O'Donnell-Luria, Anne

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Incidental Findings of Copy Number Variants by SNP-Based Noninvasive Prenatal Testing: Implications for Maternal Health by Goldring, Georgina, DiNonno, Wendy, Xu, Wenbo, Pais, Lynn, Leonard, Samantha, Jelsema, Russel, Meltzer, Jeffrey

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Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7) by Deuis, Jennifer R, Kumble, Smitha, Keramidas, Angelo, Ragnarsson, Lotten, Simons, Cas, Pais, Lynn, White, Susan M, Vetter, Irina

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POLRMT mutations impair mitochondrial transcription causing neurological disease by Oláhová, Monika, Peter, Bradley, Szilagyi, Zsolt, Diaz-Maldonado, Hector, Singh, Meenakshi, Sommerville, Ewen W, Blakely, Emma L, Collier, Jack J, Hoberg, Emily, Stránecký, Viktor, Hartmannová, Hana, Bleyer, Anthony J, McBride, Kim L, Bowden, Sasigarn A, Korandová, Zuzana, Pecinová, Alena, Ropers, Hans-Hilger, Kahrizi, Kimia, Najmabadi, Hossein, Tarnopolsky, Mark A, Brady, Lauren I, Weaver, K Nicole, Prada, Carlos E, Õunap, Katrin, Wojcik, Monica H, Pajusalu, Sander, Syeda, Safoora B, Pais, Lynn, Estrella, Elicia A, Bruels, Christine C, Kunkel, Louis M, Kang, Peter B, Bonnen, Penelope E, Mráček, Tomáš, Kmoch, Stanislav, Gorman, Gráinne S, Falkenberg, Maria, Gustafsson, Claes M, Taylor, Robert W

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Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling by Dufour, William, Alawbathani, Salem, Jourdain, Anne-Sophie, Asif, Maria, Baujat, Geneviève, Becker, Christian, Budde, Birgit, Gallacher, Lyndon, Georgomanolis, Theodoros, Ghoumid, Jamal, Höhne, Wolfgang, Lyonnet, Stanislas, Ba-Saddik, Iman Ali, Manouvrier-Hanu, Sylvie, Motameny, Susanne, Noegel, Angelika A., Pais, Lynn, Vanlerberghe, Clémence, Wagle, Prerana, White, Susan M., Willems, Marjolaine, Nürnberg, Peter, Escande, Fabienne, Petit, Florence, Hussain, Muhammad Sajid

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CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes by Maio, Nunziata, Orbach, Rotem, Zaharieva, Irina T, Topf, Ana, Donkervoort, Sandra, Munot, Pinki, Mueller, Juliane, Willis, Tracey, Verma, Sumit, Peric, Stojan, Krishnakumar, Deepa, Sudhakar, Sniya, Foley, A. Reghan, Silverstein, Sarah, Douglas, Ganka, Pais, Lynn, DiTroia, Stephanie, Grunseich, Christopher, Hu, Ying, Sewry, Caroline, Sarkozy, Anna, Straub, Volker, Muntoni, Francesco, Rouault, Tracey A, Bonnemann, Carsten G

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Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures by Tan, Tiong Yang, Sedmík, Jiří, Fitzgerald, Mark P., Halevy, Rivka Sukenik, Keegan, Liam P., Helbig, Ingo, Basel-Salmon, Lina, Cohen, Lior, Straussberg, Rachel, Chung, Wendy K., Helal, Mayada, Maroofian, Reza, Houlden, Henry, Juusola, Jane, Sadedin, Simon, Pais, Lynn, Howell, Katherine B., White, Susan M., Christodoulou, John, O’Connell, Mary A.

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Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans by Van Bergen, Nicole J, Bell, Katrina M, Carey, Kirsty, Gear, Russell, Massey, Sean, Murrell, Edward K, Gallacher, Lyndon, Pope, Kate, Lockhart, Paul J, Kornberg, Andrew, Pais, Lynn, Walkiewicz, Marzena, Simons, Cas, Wickramasinghe, Vihandha O, White, Susan M, Christodoulou, John

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