Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Authors: Elkhateeb, Nour ^{1, ∗∗}, Crookes, Renarta ², Spiller, Michael ², Pavinato, Lisa ^{3, 4, 5}, Palermo, Flavia ³, Brusco, Alfredo ^{6, 7}, Parker, Michael ⁸, Park, Soo-Mi ¹, Mendes, Ariana Costa ⁹, Saraiva, Jorge M. ^{9, 10, 11}, Hammer, Trine Bjørg ^{12, 13}, Nazaryan-Petersen, Lusine ^{13, 14}, Barakat, Tahsin Stefan ^{15, 16, 17}, Wilke, Martina ¹⁵, Bhoj, Elizabeth ¹⁸, Ahrens-Nicklas, Rebecca C. ¹⁸, Li, Dong ¹⁸, Nomakuchi, Tomoki ¹⁸, Brilstra, Eva H. ¹⁹, Hunt, David ²⁰, Johnson, Diana ⁸, Mansour, Sahar ^{21, 22}, Oprych, Kathryn ²¹, Mehta, Sarju G. ¹, Platzer, Konrad ^{23, 24}, Schnabel, Franziska ^{23, 24}, Kiep, Henriette ^{23, 24}, Faust, Helene ^{23, 24}, Prinzing, Gillian ²⁵, Wiltrout, Kimberly ²⁵, Radley, Jessica A. ²⁶, Serrano Russi, Alvaro H. ²⁷, Atallah, Isis ²⁸, Campos-Xavier, Belinda ²⁸, Amor, David J. ^{29, 30}, Morgan, Angela T. ^{29, 30}, Fagerberg, Christina ^{31, 32}, Andersen, Ulla A. ³³, Andersen, Charlotte B. ³¹, Bijlsma, Emilia K. ³⁴, Bird, Lynne M. ³⁵, Mullegama, Sureni V. ³⁶, Green, Andrew ^{37, 38}, Isidor, Bertrand ^{39, 40}, Cogné, Benjamin ³⁹, Kenny, Janna ³⁷, Lynch, Sally A. ³⁷, Quin, Shauna ³⁷, Low, Karen ^{41, 42}, Herget, Theresia ⁴³, Kortüm, Fanny ⁴³, Levy, Rebecca J. ⁴⁴, Morrison, Jennifer L. ⁴⁵, Wheeler, Patricia G. ⁴⁵, Narumanch, TaraChandra ⁴⁶, Peron, Kristina ⁴⁶, Matthews, Nicole ⁴⁶, Uhlman, Jillian ⁴⁷, Bell, Lauren ⁴⁷, Pang, Lewis ⁴⁸, Scurr, Ingrid ⁴¹, Belles, Rebecca S. ⁴⁹, Salbert, Bonnie Anne ⁴⁹, Schaefer, Gerald Bradley ⁵⁰, Green, Sarah ⁵⁰, Ros, Andrea ⁵¹, Rodríguez-Palmero, Agustí ^{52, 53}, Višnjar, Tanja ⁵⁴, Writzl, Karin ^{54, 55}, Vasudevan, Pradeep C. ⁵⁶, Balasubramanian, Meena ^{8, 57, ∗}

Source: In Genetics in Medicine March 2025 27(3)

POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum

Authors: Rossi, Alessandra, Blok, Lot Snijders, Neuser, Sonja, Klöckner, Chiara, Platzer, Konrad, Faivre, Laurence Olivier, Weigand, Heike, Dentici, Maria L., Tartaglia, Marco, Niceta, Marcello, Alfieri, Paolo, Srivastava, Siddharth, Coulter, David, Smith, Lacey, Vinorum, Kristin, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Torun, Deniz, Arslan, Mutluay, Lauridsen, Mathilde F., Murch, Oliver, Irving, Rachel, Lynch, Sally A., Mehta, Sarju G., Carmichael, Jenny, Zonneveld‐Huijssoon, Evelien, Vries, Bert, Kleefstra, Tjitske, Johannesen, Katrine M., Westphall, Ian T., Hughes, Susan S., Smithson, Sarah, Evans, Julie, Dudding‐Byth, Tracy, Simon, Marleen, Binsbergen, Ellen, Herkert, Johanna C., Beunders, Gea, Oppermann, Henry, Bakal, Mert, Møller, Rikke S., Rubboli, Guido, Bayat, Allan

Source: Clinical genetics. 104(2):186-197

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186836044.0x000001&indx=1&recIds=ETOCvdc_100186836044.0x000001

SMAD3 mutation in LDS3 causes bone fragility by impairing the TGF-β pathway and enhancing osteoclastogenesis

Authors: El-Gazzar, Ahmed, Kang, Heeseog, Fratzl-Zelman, Nadja, Webb, Emma, Barnes, Aileen M., Jovanovic, Milena, Mehta, Sarju G., Datta, Vipan, Saraff, Vrinda, Dale, Ryan K., Rauch, Frank, Marini, Joan C., Högler, Wolfgang

Source: In Bone Reports December 2022 17

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Authors: Lenaerts, Lisa, Reynhout, Sara, Verbinnen, Iris, Laumonnier, Frédéric, Toutain, Annick, Bonnet-Brilhault, Frédérique, Hoorne, Yana, Joss, Shelagh, Chassevent, Anna K., Smith-Hicks, Constance, Loeys, Bart, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mehta, Sarju G., Chung, Wendy K., Devriendt, Koenraad, Holder, Susan E., Jewett, Tamison, Baldwin, Lauren M., Wilson, William G., Towner, Shelley, Srivastava, Siddharth, Johnson, Hannah F., Daumer-Haas, Cornelia, Baethmann, Martina, Ruiz, Anna, Gabau, Elisabeth, Jain, Vani, Varghese, Vinod, Al-Beshri, Ali, Fulton, Stephen, Wechsberg, Oded, Orenstein, Naama, Prescott, Katrina, Childs, Anne-Marie, Faivre, Laurence, Moutton, Sébastien, Sullivan, Jennifer A., Shashi, Vandana, Koudijs, Suzanne M., Heijligers, Malou, Kivuva, Emma, McTague, Amy, Male, Alison, van Ierland, Yvette, Plecko, Barbara, Maystadt, Isabelle, Hamid, Rizwan, Hannig, Vickie L., Houge, Gunnar, Janssens, Veerle

Source: In Genetics in Medicine February 2021 23(2):352-362

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Authors: Crow, Yanick J, Marshall, Heather, Rice, Gillian I, Seabra, Luis, Jenkinson, Emma M, Baranano, Kristin, Battini, Roberta, Berger, Andrea, Blair, Edward, Blauwblomme, Thomas, Bolduc, Francois, Boddaert, Natalie, Buckard, Johannes, Burnett, Heather, Calvert, Sophie, Caumes, Roseline, Ng, Andy Cheuk‐Him, Chiang, Diana, Clifford, David B, Cordelli, Duccio M, Burca, Anna, Demic, Natasha, Desguerre, Isabelle, De Waele, Liesbeth, Di Fonzo, Alessio, Dunham, S. Richard, Dyack, Sarah, Elmslie, Frances, Ferrand, Mickaël, Fisher, Gemma, Karimiani, Ehsan Ghayoor, Ghoumid, Jamal, Gibbon, Frances, Goel, Himanshu, Hilmarsen, Hilde T, Hughes, Imelda, Jacob, Anu, Jones, Elizabeth A, Kumar, Ram, Leventer, Richard J, MacDonald, Shelley, Maroofian, Reza, Mehta, Sarju G, Metz, Imke, Monfrini, Edoardo, Neumann, Daniela, Noetzel, Michael, O'Driscoll, Mary, Õunap, Katrin, Panzer, Axel, Parikh, Sumit, Prabhakar, Prab, Ramond, Francis, Sandford, Richard, Saneto, Russell, Soh, Calvin, Stutterd, Chloe A, Subramanian, Gopinath M, Talbot, Kevin, Thomas, Rhys H, Toro, Camilo, Touraine, Renaud, Wakeling, Emma, Wassmer, Evangeline, Whitney, Andrea, Livingston, John H, O'Keefe, Raymond T, Badrock, Andrew P

Source: American journal of medical genetics.Part A. 185(1):15-25

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100112419794.0x000001&indx=1&recIds=ETOCvdc_100112419794.0x000001

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Authors: Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana

Source: In The American Journal of Human Genetics 5 March 2020 106(3):338-355

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Authors: Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Jr., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.

Source: In The American Journal of Human Genetics 2 May 2019 104(5):815-834

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients

Authors: Gazdagh, Gabriella, Blyth, Moira, Scurr, Ingrid, Turnpenny, Peter D., Mehta, Sarju G., Armstrong, Ruth, McEntagart, Meriel, Newbury-Ecob, Ruth, Tobias, Edward S., Joss, Shelagh

Source: In European Journal of Medical Genetics January 2019 62(1):27-34

Quantifying the contribution of recessive coding variation to developmental disorders

Authors: Deciphering Developmental Disorders Study, Martin, Hilary C., Jones, Wendy D., McIntyre, Rebecca, Sanchez-Andrade, Gabriela, Sanderson, Mark, Stephenson, James D., Jones, Carla P., Handsaker, Juliet, Gallone, Giuseppe, Bruntraeger, Michaela, McRae, Jeremy F., Prigmore, Elena, Short, Patrick, Niemi, Mari, Kaplanis, Joanna, Radford, Elizabeth J., Akawi, Nadia, Balasubramanian, Meena, Dean, John, Horton, Rachel, Hulbert, Alice, Johnson, Diana S., Johnson, Katie, Kumar, Dhavendra, Lynch, Sally Ann, Mehta, Sarju G., Morton, Jenny, Parker, Michael J., Splitt, Miranda, Turnpenny, Peter D., Vasudevan, Pradeep C., Wright, Michael, Bassett, Andrew, Gerety, Sebastian S., Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E., Barrett, Jeffrey C.

Source: Science, 2018 Dec 01. 362(6419), 1161-1164.

Access URL: https://www.jstor.org/stable/26569195

PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases

Authors: Bownass, Lucy, Abbs, Stephen, Armstrong, Ruth, Baujat, Genevieve, Behzadi, Gry, Berentsen, Ragnhild Drage, Burren, Christine, Calder, Alistair, Cormier‐Daire, Valérie, Newbury‐Ecob, Ruth, Foulds, Nicola, Juliusson, Petur B., Kant, Sarina G., Lefroy, Henrietta, Mehta, Sarju G., Merckoll, Else, Michot, Caroline, Monsell, Fergal, Offiah, Amaka C., Richards, Allan, Rosendahl, Karen, Rustad, Cecilie F., Shears, Deborah, Tveten, Kristian, Wellesley, Diana, Wordsworth, Paul, Smithson, Sarah

Source: American journal of medical genetics.Part A. 179(9):1884-1894

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087162270.0x000001&indx=1&recIds=ETOCvdc_100087162270.0x000001

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Authors: Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sarah, Bergstrom, Katie L., Parsons, Donald W., Plon, Sharon E., Vieira, Marta W., Quaio, Caio R.D.C., Baratela, Wagner A.R., Acosta Guio, Johanna C., Armstrong, Ruth, Mehta, Sarju G., Rump, Patrick, Pfundt, Rolph, Lewandowski, Raymond, Fernandes, Erica M., Shinde, Deepali N., Tang, Sha, Hoyer, Juliane, Zweier, Christiane, Reis, André, Bacino, Carlos A., Xiao, Rui, Breman, Amy M., Smith, Janice L., Katsanis, Nicholas, Bostwick, Bret, Popp, Bernt, Davis, Erica E., Yang, Yaping

Source: In The American Journal of Human Genetics 5 October 2017 101(4):503-515

De novo variants in KCNA3 cause developmental and epileptic encephalopathy.

Authors: Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Servettini, Ilenio, Pietrunti, Francesca, Belperio, Giorgio, Bast, Thomas, Benke, Paul J, Dietel, Tobias, Ellard, Sian, Fahey, Michael C, Hay, Eleanor, Starling, Susan, Jain, Vani, Kamsteeg, Erik‐Jan, Lichty, Angie W, Louie, Raymond J, Mehta, Sarju G, Morsy, Heba, Moore, Sandra

Source: Annals of Neurology; Feb2024, Vol. 95 Issue 2, p365-376, 12p

Subject Terms: GAIN-of-function mutations, GENETIC variation, MISSENSE mutation, BRAIN diseases, AUTISM spectrum disorders, PEOPLE with epilepsy

Detection of structural mosaicism from targeted and whole-genome sequencing data

Authors: King, Daniel A., Sifrim, Alejandro, Fitzgerald, Tomas W., Rahbari, Raheleh, Hobson, Emma, Homfray, Tessa, Mansour, Sahar, Mehta, Sarju G., Shehla, Mohammed, Tomkins, Susan E.

Source: Genome research. 27(10):1704-1714

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN613171380&indx=1&recIds=ETOCRN613171380

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Authors: Almalki, Abdulraheem, Alston, Charlotte L., Parker, Alasdair, Simonic, Ingrid, Mehta, Sarju G., He, Langping, Reza, Mojgan, Oliveira, Jorge M.A., Lightowlers, Robert N., McFarland, Robert, Taylor, Robert W., Chrzanowska-Lightowlers, Zofia M.A.

Source: In BBA - Molecular Basis of Disease January 2014 1842(1):56-64

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

Authors: Thompson, Kyle, Bianchi, Lucas, Rastelli, Francesca, Piron-Prunier, Florence, Ayciriex, Sophie, Besmond, Claude, Hubert, Laurence, Barth, Magalie, Barbosa, Inês A., Deshpande, Charu, Chitre, Manali, Mehta, Sarju G., Wever, Eric J.M., Marcorelles, Pascale, Donkervoort, Sandra, Saade, Dimah, Bönnemann, Carsten G., Chao, Katherine R., Cai, Chunyu, Iannaccone, Susan T., Dean, Andrew F., McFarland, Robert, Vaz, Frédéric M., Delahodde, Agnès, Taylor, Robert W., Rötig, Agnès

Source: In Human Genetics and Genomics Advances 14 April 2022 3(2)

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.

Authors: Pagnamenta, Alistair T., Jing Yu, Evans, Julie, Twiss, Philip, Offiah, Amaka C., Wafik, Mohamed, Mehta, Sarju G., Javaid, Mohammed K., Smithson, Sarah F., Taylor, Jenny C.

Source: Journal of Medical Genetics; May2023, Vol. 60 Issue 5, p505-510, 28p

Expanding the phenotype and genotype spectrum of TAOK1neurodevelopmental disorder and delineating TAOK2neurodevelopmental disorder

Authors: Elkhateeb, Nour, Crookes, Renarta, Spiller, Michael, Pavinato, Lisa, Palermo, Flavia, Brusco, Alfredo, Parker, Michael, Park, Soo-Mi, Mendes, Ariana Costa, Saraiva, Jorge M., Hammer, Trine Bjørg, Nazaryan-Petersen, Lusine, Barakat, Tahsin Stefan, Wilke, Martina, Bhoj, Elizabeth, Ahrens-Nicklas, Rebecca C., Li, Dong, Nomakuchi, Tomoki, Brilstra, Eva H., Hunt, David, Johnson, Diana, Mansour, Sahar, Oprych, Kathryn, Mehta, Sarju G., Platzer, Konrad, Schnabel, Franziska, Kiep, Henriette, Faust, Helene, Prinzing, Gillian, Wiltrout, Kimberly, Radley, Jessica A., Serrano Russi, Alvaro H., Atallah, Isis, Campos-Xavier, Belinda, Amor, David J., Morgan, Angela T., Fagerberg, Christina, Andersen, Ulla A., Andersen, Charlotte B., Bijlsma, Emilia K., Bird, Lynne M., Mullegama, Sureni V., Green, Andrew, Isidor, Bertrand, Cogné, Benjamin, Kenny, Janna, Lynch, Sally A., Quin, Shauna, Low, Karen, Herget, Theresia, Kortüm, Fanny, Levy, Rebecca J., Morrison, Jennifer L., Wheeler, Patricia G., Narumanch, TaraChandra, Peron, Kristina, Matthews, Nicole, Uhlman, Jillian, Bell, Lauren, Pang, Lewis, Scurr, Ingrid, Belles, Rebecca S., Salbert, Bonnie Anne, Schaefer, Gerald Bradley, Green, Sarah, Ros, Andrea, Rodríguez-Palmero, Agustí, Višnjar, Tanja, Writzl, Karin, Vasudevan, Pradeep C., Balasubramanian, Meena

Source: Genetics in Medicine; March 2025, Vol. 27 Issue: 3

APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD)

Authors: Mehta, Sarju G., Watts, Giles Dj, Adamson, Jennifer L., Hutton, Mike, Umberger, Geanie, Xiong, Shuling, Ramdeen, Sheena, Lovell, Mark A., Kimonis, Virginia E. ^*, Smith, Charles D.

Source: In Genetics in Medicine January 2007 9(1):9-13

Conclusion of diagnostic odysseys due to inversions disrupting GLI3and FBN1

Authors: Pagnamenta, Alistair T, Yu, Jing, Evans, Julie, Twiss, Philip, Offiah, Amaka C, Wafik, Mohamed, Mehta, Sarju G, Javaid, Mohammed K, Smithson, Sarah F, Taylor, Jenny C

Source: Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 5 p505-510, 6p

Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone

Authors: Lucas, Gavin J.A., Mehta, Sarju G., Hocking, Lynne J., Stewart, Tracy L., Cundy, Tim, Nicholson, Geoff C., Walsh, John P., Fraser, William D., Watts, Giles D.J., Ralston, Stuart H., Kimonis, Virginia E.

Source: In Bone 2006 38(2):280-285