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M
Melissa Lees
university of london
48H-index
122Paper Count
7.9KCitation Count
Published Papers 35
Publication Date
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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.png)
NATURE COMMUNICATIONS.png)
2023-02-15
18
OAAI
Bernkopf, Marie; Abdullah, Ummi B.; Bush, Stephen J.; Wood, Katherine A.; Ghaffari, Sahar; Giannoulatou, Eleni; Koelling, Nils; Maher, Geoffrey J.; Thibaut, Loic M.; Williams, Jonathan; Blair, Edward M.; Kelly, Fiona Blanco; Bloss, Angela; Burkitt-Wright, Emma; Canham, Natalie; Deng, Alexander T.; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Gardham, Alice; Hay, Eleanor; Holder, Muriel; Homfray, Tessa; Hurst, Jane A.; Johnson, Diana; Jones, Wendy D.; Kini, Usha; Kivuva, Emma; Kumar, Ajith; Lees, Melissa M.; Leitch, Harry G.; Morton, Jenny E. V.; Nemeth, Andrea H.; Ramachandrappa, Shwetha; Saunders, Katherine; Shears, Deborah J.; Side, Lucy; Splitt, Miranda; Stewart, Alison; Stewart, Helen; Suri, Mohnish; Clouston, Penny; Davies, Robert W.; Wilkie, Andrew O. M.; Goriely, Anne
NATURE COMMUNICATIONSIF15.7
2023-02-1518OAAIBernkopf, Marie; Abdullah, Ummi B.; Bush, Stephen J.; Wood, Katherine A.; Ghaffari, Sahar; Giannoulatou, Eleni; Koelling, Nils; Maher, Geoffrey J.; Thibaut, Loic M.; Williams, Jonathan; Blair, Edward M.; Kelly, Fiona Blanco; Bloss, Angela; Burkitt-Wright, Emma; Canham, Natalie; Deng, Alexander T.; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Gardham, Alice; Hay, Eleanor; Holder, Muriel; Homfray, Tessa; Hurst, Jane A.; Johnson, Diana; Jones, Wendy D.; Kini, Usha; Kivuva, Emma; Kumar, Ajith; Lees, Melissa M.; Leitch, Harry G.; Morton, Jenny E. V.; Nemeth, Andrea H.; Ramachandrappa, Shwetha; Saunders, Katherine; Shears, Deborah J.; Side, Lucy; Splitt, Miranda; Stewart, Alison; Stewart, Helen; Suri, Mohnish; Clouston, Penny; Davies, Robert W.; Wilkie, Andrew O. M.; Goriely, Anne.png){kind=icon}
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SaveDelineating the molecular and phenotypic spectrum of the SETD1B-related syndromeGENETICS IN MEDICINE2021-11-0122OAAIWeerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-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; Jarvela, Irma; Lauronen, Leena; Maatta, 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
GENETICS IN MEDICINEIF6.2
2021-11-0122OAAIWeerts, Marjolein J. A.; Lanko, Kristina; Guzman-Vega, Francisco J.; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londono, Kelly J.; Pena-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; Jarvela, Irma; Lauronen, Leena; Maatta, 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 StefanShareSaveDe Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment2020-12-0142OAAIRodger, Catherine; Flex, Elisabetta; Allison, Rachel J.; Sanchis-Juan, Alba; Hasenahuer, Marcia A.; Cecchetti, Serena; French, Courtney E.; Edgar, James R.; Carpentieri, Giovanna; Ciolfi, Andrea; Pantaleoni, Francesca; Bruselles, Alessandro; Onesimo, Roberta; Zampino, Giuseppe; Marcon, Francesca; Siniscalchi, Ester; Lees, Melissa; Krishnakumar, Deepa; McCann, Emma; Yosifova, Dragana; Jarvis, Joanna; Kruer, Michael C.; Marks, Warren; Campbell, Jonathan; Allen, Louise E.; Gustincich, Stefano; Raymond, F. Lucy; Tartaglia, Marco; Reid, Evan
2020-12-0142OAAIRodger, Catherine; Flex, Elisabetta; Allison, Rachel J.; Sanchis-Juan, Alba; Hasenahuer, Marcia A.; Cecchetti, Serena; French, Courtney E.; Edgar, James R.; Carpentieri, Giovanna; Ciolfi, Andrea; Pantaleoni, Francesca; Bruselles, Alessandro; Onesimo, Roberta; Zampino, Giuseppe; Marcon, Francesca; Siniscalchi, Ester; Lees, Melissa; Krishnakumar, Deepa; McCann, Emma; Yosifova, Dragana; Jarvis, Joanna; Kruer, Michael C.; Marks, Warren; Campbell, Jonathan; Allen, Louise E.; Gustincich, Stefano; Raymond, F. Lucy; Tartaglia, Marco; Reid, EvanShareSaveKAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (vol 21, 10.1038/s41436-018-0259-2, 2019)GENETICS IN MEDICINE2020-11-010OAAIKennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L.; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J.; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia A. L.; Nibbeling, Esther; Dingemans, Alexander J. M.; Douine, Emilie D.; Nelson, Stanley F.; Hempel, Maja; Bierhals, Tatjana; Lessel, Davor; Johannsen, Jessika; Arboleda, Valerie A.; Newbury-Ecob, Ruth
GENETICS IN MEDICINEIF6.2
2020-11-010OAAIKennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L.; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J.; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia A. L.; Nibbeling, Esther; Dingemans, Alexander J. M.; Douine, Emilie D.; Nelson, Stanley F.; Hempel, Maja; Bierhals, Tatjana; Lessel, Davor; Johannsen, Jessika; Arboleda, Valerie A.; Newbury-Ecob, RuthShareSaveA clinical scoring system for congenital contractural arachnodactylyGENETICS IN MEDICINE2020-01-0119OAAIMeerschaut, Ilse; De Coninck, Shana; Steyaert, Wouter; Barnicoat, Angela; Bayat, Allan; Benedicenti, Francesco; Berland, Siren; Blair, Edward M.; Breckpot, Jeroen; De Burca, Anna; Destree, Anne; Garcia-Minaur, Sixto; Green, Andrew J.; Hanna, Bernadette C.; Keymolen, Kathelijn; Koopmans, Marije; Lederer, Damien; Lees, Melissa; Longman, Cheryl; Lynch, Sally Ann; Male, Alison M.; McKenzie, Fiona; Migeotte, Isabelle; Mihci, Ercan; Nur, Banu; Petit, Florence; Piard, Juliette; Plasschaert, Frank S.; Rauch, Anita; Ribai, Pascale; Pacheco, Iratxe Salcedo; Stanzial, Franco; Stolte-Dijkstra, Irene; Valenzuela, Irene; Varghese, Vinod; Vasudevan, Pradeep C.; Wakeling, Emma; Wallgren-Pettersson, Carina; Coucke, Paul; De Paepe, Anne; De Wolf, Daniel; Symoens, Sofie; Callewaert, Bert
GENETICS IN MEDICINEIF6.2
2020-01-0119OAAIMeerschaut, Ilse; De Coninck, Shana; Steyaert, Wouter; Barnicoat, Angela; Bayat, Allan; Benedicenti, Francesco; Berland, Siren; Blair, Edward M.; Breckpot, Jeroen; De Burca, Anna; Destree, Anne; Garcia-Minaur, Sixto; Green, Andrew J.; Hanna, Bernadette C.; Keymolen, Kathelijn; Koopmans, Marije; Lederer, Damien; Lees, Melissa; Longman, Cheryl; Lynch, Sally Ann; Male, Alison M.; McKenzie, Fiona; Migeotte, Isabelle; Mihci, Ercan; Nur, Banu; Petit, Florence; Piard, Juliette; Plasschaert, Frank S.; Rauch, Anita; Ribai, Pascale; Pacheco, Iratxe Salcedo; Stanzial, Franco; Stolte-Dijkstra, Irene; Valenzuela, Irene; Varghese, Vinod; Vasudevan, Pradeep C.; Wakeling, Emma; Wallgren-Pettersson, Carina; Coucke, Paul; De Paepe, Anne; De Wolf, Daniel; Symoens, Sofie; Callewaert, BertShareSaveFinding Diagnostically Useful Patterns in Quantitative Phenotypic Data2019-11-018OAAIAitken, Stuart; Firth, Helen V.; McRae, Jeremy; Halachev, Mihail; Kini, Usha; Parker, Michael J.; Lees, Melissa M.; Lachlan, Katherine; Sarkar, Ajoy; Joss, Shelagh; Splitt, Miranda; McKee, Shane; Nemeth, Andrea H.; Scott, Richard H.; Wright, Caroline F.; Marsh, Joseph A.; Hurles, Matthew E.; FitzPatrick, David R.
2019-11-018OAAIAitken, Stuart; Firth, Helen V.; McRae, Jeremy; Halachev, Mihail; Kini, Usha; Parker, Michael J.; Lees, Melissa M.; Lachlan, Katherine; Sarkar, Ajoy; Joss, Shelagh; Splitt, Miranda; McKee, Shane; Nemeth, Andrea H.; Scott, Richard H.; Wright, Caroline F.; Marsh, Joseph A.; Hurles, Matthew E.; FitzPatrick, David R.ShareSaveThe ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)GENETICS IN MEDICINE2019-09-015OAAIvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.
GENETICS IN MEDICINEIF6.2
2019-09-015OAAIvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.ShareSaveThe ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndromeGENETICS IN MEDICINE2019-06-0191OAAIvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.
GENETICS IN MEDICINEIF6.2
2019-06-0191OAAIvan der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.ShareSaveMutation update for the SATB2 geneHUMAN MUTATION2019-04-2544OAAIZarate, Yuri A.; Bosanko, Katherine A.; Caffrey, Aisling R.; Bernstein, Jonathan A.; Martin, Donna M.; Williams, Marc S.; Berry-Kravis, Elizabeth M.; Mark, Paul R.; Manning, Melanie A.; Bhambhani, Vikas; Vargas, Marcelo; Seeley, Andrea H.; Estrada-Veras, Juvianee, I; vanDooren, Marieke F.; Schwab, Maria; Vanderver, Adeline; Melis, Daniela; Alsadah, Adnan; Sadler, Laurie; Van Esch, Hilde; Callewaert, Bert; Oostra, Ann; Maclean, Jane; Dentici, Maria Lisa; Orlando, Valeria; Lipson, Mark; Sparagana, Steven P.; Maarup, Timothy J.; Alsters, Suzanne I. M.; Brautbar, Ariel; Kovitch, Eliana; Naidu, Sakkubai; Lees, Melissa; Smith, Douglas M.; Turner, Lesley; Raggio, Victor; Spangenberg, Lucia; Garcia-Minaur, Sixto; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Grange, Dorothy; Pfotenhauer, Jean; Jones, Marilyn C.; Balasubramanian, Meena; Martinez-Monseny, Antonio; Blok, Lot Snijders; Gavrilova, Ralitza; Fish, Jennifer L.
HUMAN MUTATIONIF3.7
2019-04-2544OAAIZarate, Yuri A.; Bosanko, Katherine A.; Caffrey, Aisling R.; Bernstein, Jonathan A.; Martin, Donna M.; Williams, Marc S.; Berry-Kravis, Elizabeth M.; Mark, Paul R.; Manning, Melanie A.; Bhambhani, Vikas; Vargas, Marcelo; Seeley, Andrea H.; Estrada-Veras, Juvianee, I; vanDooren, Marieke F.; Schwab, Maria; Vanderver, Adeline; Melis, Daniela; Alsadah, Adnan; Sadler, Laurie; Van Esch, Hilde; Callewaert, Bert; Oostra, Ann; Maclean, Jane; Dentici, Maria Lisa; Orlando, Valeria; Lipson, Mark; Sparagana, Steven P.; Maarup, Timothy J.; Alsters, Suzanne I. M.; Brautbar, Ariel; Kovitch, Eliana; Naidu, Sakkubai; Lees, Melissa; Smith, Douglas M.; Turner, Lesley; Raggio, Victor; Spangenberg, Lucia; Garcia-Minaur, Sixto; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Grange, Dorothy; Pfotenhauer, Jean; Jones, Marilyn C.; Balasubramanian, Meena; Martinez-Monseny, Antonio; Blok, Lot Snijders; Gavrilova, Ralitza; Fish, Jennifer L.ShareSaveKAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsGENETICS IN MEDICINE2019-04-0185OAAIKennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L.; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J.; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia A. L.; Nibbeling, Esther; Dingemans, Alexander J. M.; Douine, Emilie D.; Nelson, Stanley F.; Arboleda, Valerie A.; Newbury-Ecob, Ruth
GENETICS IN MEDICINEIF6.2
2019-04-0185OAAIKennedy, Joanna; Goudie, David; Blair, Edward; Chandler, Kate; Joss, Shelagh; McKay, Victoria; Green, Andrew; Armstrong, Ruth; Lees, Melissa; Kamien, Benjamin; Hopper, Bruce; Tan, Tiong Yang; Yap, Patrick; Stark, Zornitza; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Macnamara, Ellen; Murphy, Jennifer L.; McCormick, Elizabeth; Hakonarson, Hakon; Falk, Marni J.; Li, Dong; Blackburn, Patrick; Klee, Eric; Babovic-Vuksanovic, Dusica; Schelley, Susan; Hudgins, Louanne; Kant, Sarina; Isidor, Bertrand; Cogne, Benjamin; Bradbury, Kimberley; Williams, Mark; Patel, Chirag; Heussler, Helen; Duff-Farrier, Celia; Lakeman, Phillis; Scurr, Ingrid; Kini, Usha; Elting, Mariet; Reijnders, Margot; Schuurs-Hoeijmakers, Janneke; Wafik, Mohamed; Blomhoff, Anne; Ruivenkamp, Claudia A. L.; Nibbeling, Esther; Dingemans, Alexander J. M.; Douine, Emilie D.; Nelson, Stanley F.; Arboleda, Valerie A.; Newbury-Ecob, RuthShareSaveDe Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder2019-04-0145OAAICalpena, Eduardo; Hervieu, Alexia; Kaserer, Teresa; Swagemakers, Sigrid M. A.; Goos, Jacqueline A. C.; Popoola, Olajumoke; Ortiz-Ruiz, Maria Jesus; Barbaro-Dieber, Tina; Bownass, Lucy; Brilstra, Eva H.; Brimble, Elise; Foulds, Nicola; Grebe, Theresa A.; Harder, Aster V. E.; Lees, Melissa M.; Monaghan, Kristin G.; Newbury-Ecob, Ruth A.; Ong, Kai-Ren; Osio, Deborah; Santos, Francis Jeshira Reynoso; Ruzhnikov, Maura R. Z.; Telegrafi, Aida; van Binsbergen, Ellen; van Dooren, Marieke F.; van der Spek, Peter J.; Blagg, Julian; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Clarke, Paul A.; Wilkie, Andrew O. M.
2019-04-0145OAAICalpena, Eduardo; Hervieu, Alexia; Kaserer, Teresa; Swagemakers, Sigrid M. A.; Goos, Jacqueline A. C.; Popoola, Olajumoke; Ortiz-Ruiz, Maria Jesus; Barbaro-Dieber, Tina; Bownass, Lucy; Brilstra, Eva H.; Brimble, Elise; Foulds, Nicola; Grebe, Theresa A.; Harder, Aster V. E.; Lees, Melissa M.; Monaghan, Kristin G.; Newbury-Ecob, Ruth A.; Ong, Kai-Ren; Osio, Deborah; Santos, Francis Jeshira Reynoso; Ruzhnikov, Maura R. Z.; Telegrafi, Aida; van Binsbergen, Ellen; van Dooren, Marieke F.; van der Spek, Peter J.; Blagg, Julian; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Clarke, Paul A.; Wilkie, Andrew O. M.ShareSaveDisruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family2019-03-276OAAISeselgyte, R.; Bryant, D.; Demetriou, C.; Ishida, M.; Peskett, E.; Moreno, N.; Morrogh, D.; Sell, D.; Lees, M.; Farrall, M.; Moore, G. E.; Sommerlad, B.; Pauws, E.; Stanier, P.
2019-03-276OAAISeselgyte, R.; Bryant, D.; Demetriou, C.; Ishida, M.; Peskett, E.; Moreno, N.; Morrogh, D.; Sell, D.; Lees, M.; Farrall, M.; Moore, G. E.; Sommerlad, B.; Pauws, E.; Stanier, P.ShareSaveBi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes2019-03-0126OAAIBurrage, Lindsay C.; Reynolds, John J.; Baratang, Nissan Vida; Phillips, Jennifer B.; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R.; Christiansen, Audrey E.; Lanza, Denise G.; Seavitt, John R.; Jain, Mahim; Li, Xiaohui; Parry, David A.; Raman, Vandana; Chitayat, David; Chinn, Ivan K.; Bertuch, Alison A.; Karaviti, Lefkothea; Schlesinger, Alan E.; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N.; Eng, Christine M.; Gibbs, Richard A.; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A.; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E.; Beaudet, Arthur L.; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valerie; Shen, Wei; Mao, Rong; Heaney, Jason D.; Orange, I. Jordan S.; Bertola, Debora; Yamamoto, Guilherme L.; Baratela, Wagner Ar; Butler, Merlin G.; Ali, Asim; Adeli, Mehdi; Cohn, Daniel H.; Krakow, Deborah; Jackson, Andrew P.; Lees, Melissa; Offiah, Amaka C.; Carlston, Colleen M.; Carey, John C.; Stewart, Grant S.; Bacino, Carlos A.; Campeau, Philippe M.; Lee, Brendan
2019-03-0126OAAIBurrage, Lindsay C.; Reynolds, John J.; Baratang, Nissan Vida; Phillips, Jennifer B.; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R.; Christiansen, Audrey E.; Lanza, Denise G.; Seavitt, John R.; Jain, Mahim; Li, Xiaohui; Parry, David A.; Raman, Vandana; Chitayat, David; Chinn, Ivan K.; Bertuch, Alison A.; Karaviti, Lefkothea; Schlesinger, Alan E.; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N.; Eng, Christine M.; Gibbs, Richard A.; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A.; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E.; Beaudet, Arthur L.; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valerie; Shen, Wei; Mao, Rong; Heaney, Jason D.; Orange, I. Jordan S.; Bertola, Debora; Yamamoto, Guilherme L.; Baratela, Wagner Ar; Butler, Merlin G.; Ali, Asim; Adeli, Mehdi; Cohn, Daniel H.; Krakow, Deborah; Jackson, Andrew P.; Lees, Melissa; Offiah, Amaka C.; Carlston, Colleen M.; Carey, John C.; Stewart, Grant S.; Bacino, Carlos A.; Campeau, Philippe M.; Lee, BrendanShareSaveDLK1 Is a Novel Link Between Reproduction and Metabolism2018-11-1989OAAIGames, Larissa G.; Cunha-Silva, Marina; Crespo, Raiane P.; Ramos, Carolina O.; Montenegro, Luciana R.; Canton, Ana; Lees, Melissa; Spoudeas, Helen; Dauber, Andrew; Macedo, Delanie B.; Bessa, Danielle S.; Maciel, Gustavo A.; Baracat, Edmund C.; Jorge, Alexander A. L.; Mendonca, Berenice B.; Brito, Vinicius N.; Latronico, Ana Claudia
2018-11-1989OAAIGames, Larissa G.; Cunha-Silva, Marina; Crespo, Raiane P.; Ramos, Carolina O.; Montenegro, Luciana R.; Canton, Ana; Lees, Melissa; Spoudeas, Helen; Dauber, Andrew; Macedo, Delanie B.; Bessa, Danielle S.; Maciel, Gustavo A.; Baracat, Edmund C.; Jorge, Alexander A. L.; Mendonca, Berenice B.; Brito, Vinicius N.; Latronico, Ana ClaudiaShareSaveTelomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018)SCIENTIFIC REPORTS2018-09-030OAAIFarmery, James H. R.; Smith, Mike L.; Lynch, Andy G.; Huissoon, Aarnoud; Furnell, Abigail; Mead, Adam; Levine, Adam P.; Manzur, Adnan; Thrasher, Adrian; Greenhalgh, Alan; Parker, Alasdair; Sanchis-Juan, Alba; Richter, Alex; Gardham, Alice; Lawrie, Allan; Sohal, Aman; Creaser-Myers, Amanda; Frary, Amy; Greinacher, Andreas; Themistocleous, Andreas; Peacock, Andrew J.; Marshall, Andrew; Mumford, Andrew; Rice, Andrew; Webster, Andrew; Brady, Angie; Koziell, Ania; Manson, Ania; Chandra, Anita; Hensiek, Anke; in't Veld, Anna Huis; Maw, Anna; Kelly, Anne M.; Moore, Anthony; Noordegraaf, Anton Vonk; Attwood, Antony; Herwadkar, Archana; Ghofrani, Ardi; Houweling, Arjan C.; Girerd, Barbara; Furie, Bruce; Treacy, Carmen M.; Millar, Carolyn M.; Sewell, Carrock; Roughley, Catherine; Titterton, Catherine; Williamson, Catherine; Hadinnapola, Charaka; Deshpande, Charu; Toh, Cheng-Hock; Bacchelli, Chiara; Patch, Chris; Van Geet, Chris; Babbs, Christian; Bryson, Christine; Penkett, Christopher J.; Rhodes, Christopher J.; Watt, Christopher; Bethune, Claire; Booth, Claire; Lentaigne, Claire; McJannet, Coleen; Church, Colin; French, Courtney; Samarghitean, Crina; Halmagyi, Csaba; Gale, Daniel; Greene, Daniel; Hart, Daniel; Allsup, David; Bennett, David; Edgar, David; Kiely, David G.; Gosal, David; Perry, David J.; Keeling, David; Montani, David; Shipley, Debbie; Whitehorn, Deborah; Fletcher, Debra; Krishnakumar, Deepa; Grozeva, Detelina; Kumararatne, Dinakantha; Thompson, Dorothy; Josifova, Dragana; Maher, Eamonn; Wong, Edwin K. S.; Murphy, Elaine; Dewhurst, Eleanor; Louka, Eleni; Rosser, Elisabeth; Chalmers, Elizabeth; Colby, Elizabeth; Drewe, Elizabeth; McDermott, Elizabeth; Thomas, Ellen; Staples, Emily; Clement, Emma; Matthews, Emma; Wakeling, Emma; Oksenhendler, Eric; Turro, Ernest; Reid, Evan; Wassmer, Evangeline; Raymond, F. Lucy; Hu, Fengyuan; Kennedy, Fiona; Soubrier, Florent; Flinter, Frances; Kovacs, Gabor; Polwarth, Gary; Ambegaonkar, Gautum; Arno, Gavin; Hudson, Gavin; Woods, Geoff; Coghlan, Gerry; Hayman, Grant; Arumugakani, Gururaj; Schotte, Gwen; Cook, H. Terry; Alachkar, Hana; Allen, Hana Lango; Lango-Allen, Hana; Stark, Hannah; Stauss, Hans; Schulze, Harald; Boggard, Harm J.; Baxendale, Helen; Dolling, Helen; Firth, Helen; Gall, Henning; Watson, Henry; Longhurst, Hilary; Markus, Hugh S.; Watkins, Hugh; Simeoni, Ilenia; Emmerson, Ingrid; Roberts, Irene; Quinti, Isabella; Wanjiku, Ivy; Gibbs, J. Simon R.; Thaventhiran, James; Whitworth, James; Hurst, Jane; Collins, Janine; Suntharalingam, Jay; Payne, Jeanette; Thachil, Jecko; Martin, Jennifer M.; Martin, Jennifer; Carmichael, Jenny; Maimaris, Jesmeen; Paterson, Joan; Pepke-Zaba, Joanna; Heemskerk, Johan W. M.; Gebhart, Johanna; Davis, John; Pasi, John; Bradley, John R.; Wharton, John; Stephens, Jonathan; Rankin, Julia; Anderson, Julie; Vogt, Julie; von Ziegenweldt, Julie; Rehnstrom, Karola; Megy, Karyn; Talks, Kate; Peerlinck, Kathelijne; Yates, Katherine; Freson, Kathleen; Stirrups, Kathleen; Gomez, Keith; Smith, Kenneth G. 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Campbell; Linger, Rachel; Doffinger, Rainer; Machado, Rajiv; Kazmi, Rashid; Sargur, Ravishankar; Favier, Remi; Tan, Rhea; Liesner, Ri; Antrobus, Richard; Sandford, Richard; Scott, Richard; Trembath, Richard; Horvath, Rita; Hadden, Rob; MackenzieRoss, Rob V.; Henderson, Robert; MacLaren, Robert; James, Roger; Ghurye, Rohit; DaCosta, Rosa; Hague, Rosie; Mapeta, Rutendo; Armstrong, Ruth; Noorani, Sadia; Murng, Sai; Santra, Saikat; Tuna, Salih; Johnson, Sally; Chong, Sam; Lear, Sara; Walker, Sara; Goddard, Sarah; Mangles, Sarah; Westbury, Sarah; Mehta, Sarju; Hackett, Scott; Nejentsev, Sergey; Moledina, Shahin; Bibi, Shahnaz; Meehan, Sharon; Othman, Shokri; Revel-Vilk, Shoshana; Holden, Simon; McGowan, Simon; Staines, Simon; Savic, Sinisa; Burns, Siobhan; Grigoriadou, Sofia; Papadia, Sofia; Ashford, Sofie; Schulman, Sol; Ali, Sonia; Park, Soo-Mi; Davies, Sophie; Stock, Sophie; Ali, Souad; Deevi, Sri V. V.; Graf, Stefan; Ghio, Stefano; Wort, Stephen J.; Jolles, Stephen; Austin, Steve; Welch, Steve; Meacham, Stuart; Rankin, Stuart; Walker, Suellen; Seneviratne, Suranjith; Holder, Susan; Sivapalaratnam, Suthesh; Richardson, Sylvia; Kuijpers, Taco; Kuijpers, Taco W.; Bariana, Tadbir K.; Bakchoul, Tamam; Everington, Tamara; Renton, Tara; Young, Tim; Aitman, Timothy; Warner, Timothy Q.; Vale, Tom; Hammerton, Tracey; Pollock, Val; Matser, Vera; Cookson, Victoria; Clowes, Virginia; Qasim, Waseem; Wei, Wei; Erber, Wendy N.; Ouwehand, Willem H.; Astle, William; Egner, William; Turek, Wojciech; Henskens, Yvonne; Tan, Yvonne
SCIENTIFIC REPORTSIF3.9
2018-09-030OAAIFarmery, James H. R.; Smith, Mike L.; Lynch, Andy G.; Huissoon, Aarnoud; Furnell, Abigail; Mead, Adam; Levine, Adam P.; Manzur, Adnan; Thrasher, Adrian; Greenhalgh, Alan; Parker, Alasdair; Sanchis-Juan, Alba; Richter, Alex; Gardham, Alice; Lawrie, Allan; Sohal, Aman; Creaser-Myers, Amanda; Frary, Amy; Greinacher, Andreas; Themistocleous, Andreas; Peacock, Andrew J.; Marshall, Andrew; Mumford, Andrew; Rice, Andrew; Webster, Andrew; Brady, Angie; Koziell, Ania; Manson, Ania; Chandra, Anita; Hensiek, Anke; in't Veld, Anna Huis; Maw, Anna; Kelly, Anne M.; Moore, Anthony; Noordegraaf, Anton Vonk; Attwood, Antony; Herwadkar, Archana; Ghofrani, Ardi; Houweling, Arjan C.; Girerd, Barbara; Furie, Bruce; Treacy, Carmen M.; Millar, Carolyn M.; Sewell, Carrock; Roughley, Catherine; Titterton, Catherine; Williamson, Catherine; Hadinnapola, Charaka; Deshpande, Charu; Toh, Cheng-Hock; Bacchelli, Chiara; Patch, Chris; Van Geet, Chris; Babbs, Christian; Bryson, Christine; Penkett, Christopher J.; Rhodes, Christopher J.; Watt, Christopher; Bethune, Claire; Booth, Claire; Lentaigne, Claire; McJannet, Coleen; Church, Colin; French, Courtney; Samarghitean, Crina; Halmagyi, Csaba; Gale, Daniel; Greene, Daniel; Hart, Daniel; Allsup, David; Bennett, David; Edgar, David; Kiely, David G.; Gosal, David; Perry, David J.; Keeling, David; Montani, David; Shipley, Debbie; Whitehorn, Deborah; Fletcher, Debra; Krishnakumar, Deepa; Grozeva, Detelina; Kumararatne, Dinakantha; Thompson, Dorothy; Josifova, Dragana; Maher, Eamonn; Wong, Edwin K. S.; Murphy, Elaine; Dewhurst, Eleanor; Louka, Eleni; Rosser, Elisabeth; Chalmers, Elizabeth; Colby, Elizabeth; Drewe, Elizabeth; McDermott, Elizabeth; Thomas, Ellen; Staples, Emily; Clement, Emma; Matthews, Emma; Wakeling, Emma; Oksenhendler, Eric; Turro, Ernest; Reid, Evan; Wassmer, Evangeline; Raymond, F. Lucy; Hu, Fengyuan; Kennedy, Fiona; Soubrier, Florent; Flinter, Frances; Kovacs, Gabor; Polwarth, Gary; Ambegaonkar, Gautum; Arno, Gavin; Hudson, Gavin; Woods, Geoff; Coghlan, Gerry; Hayman, Grant; Arumugakani, Gururaj; Schotte, Gwen; Cook, H. Terry; Alachkar, Hana; Allen, Hana Lango; Lango-Allen, Hana; Stark, Hannah; Stauss, Hans; Schulze, Harald; Boggard, Harm J.; Baxendale, Helen; Dolling, Helen; Firth, Helen; Gall, Henning; Watson, Henry; Longhurst, Hilary; Markus, Hugh S.; Watkins, Hugh; Simeoni, Ilenia; Emmerson, Ingrid; Roberts, Irene; Quinti, Isabella; Wanjiku, Ivy; Gibbs, J. Simon R.; Thaventhiran, James; Whitworth, James; Hurst, Jane; Collins, Janine; Suntharalingam, Jay; Payne, Jeanette; Thachil, Jecko; Martin, Jennifer M.; Martin, Jennifer; Carmichael, Jenny; Maimaris, Jesmeen; Paterson, Joan; Pepke-Zaba, Joanna; Heemskerk, Johan W. M.; Gebhart, Johanna; Davis, John; Pasi, John; Bradley, John R.; Wharton, John; Stephens, Jonathan; Rankin, Julia; Anderson, Julie; Vogt, Julie; von Ziegenweldt, Julie; Rehnstrom, Karola; Megy, Karyn; Talks, Kate; Peerlinck, Kathelijne; Yates, Katherine; Freson, Kathleen; Stirrups, Kathleen; Gomez, Keith; Smith, Kenneth G. C.; Carss, Keren; Rue-Albrecht, Kevin; Gilmour, Kimberley; Masati, Larahmie; Scelsi, Laura; Southgate, Laura; Ranganathan, Lavanya; Ginsberg, Lionel; Devlin, Lisa; Willcocks, Lisa; Ormondroyd, Liz; Lorenzo, Lorena; Harper, Lorraine; Allen, Louise; Daugherty, Louise; Chitre, Manali; Kurian, Manju; Humbert, Marc; Tischkowitz, Marc; Bitner-Glindzicz, Maria; Erwood, Marie; Scully, Marie; Veltman, Marijke; Caulfield, Mark; Layton, Mark; McCarthy, Mark; Ponsford, Mark; Toshner, Mark; Bleda, Marta; Wilkins, Martin; Mathias, Mary; Reilly, Mary; Afzal, Maryam; Brown, Matthew; Rondina, Matthew; Stubbs, Matthew; Haimel, Matthias; Lees, Melissa; Laffan, Michael A.; Browning, Michael; Gattens, Michael; Richards, Michael; Michaelides, Michel; Lambert, Michele P.; Makris, Mike; De Vries, Minka; Mahdi-Rogers, Mohamed; Saleem, Moin; Thomas, Moira; Holder, Muriel; Eyries, Melanie; Clements-Brod, Naomi; Canham, Natalie; Dormand, Natalie; Van Zuydam, Natalie; Kingston, Nathalie; Ghali, Neeti; Cooper, Nichola; Morrell, Nicholas W.; Yeatman, Nigel; Roy, Noemi; Shamardina, Olga; Alavijeh, Omid S.; Gresele, Paolo; Nurden, Paquita; Chinnery, Patrick; Deegan, Patrick; Yong, Patrick; Yu-Wai-Man, Patrick; Corris, Paul A.; Calleja, Paul; Gissen, Paul; Bolton-Maggs, Paula; Rayner-Matthews, Paula; Ghataorhe, Pavandeep K.; Gordins, Pavel; Stein, Penelope; Collins, Peter; Dixon, Peter; Kelleher, Peter; Ancliff, Phil; Yu, Ping; Tait, R. Campbell; Linger, Rachel; Doffinger, Rainer; Machado, Rajiv; Kazmi, Rashid; Sargur, Ravishankar; Favier, Remi; Tan, Rhea; Liesner, Ri; Antrobus, Richard; Sandford, Richard; Scott, Richard; Trembath, Richard; Horvath, Rita; Hadden, Rob; MackenzieRoss, Rob V.; Henderson, Robert; MacLaren, Robert; James, Roger; Ghurye, Rohit; DaCosta, Rosa; Hague, Rosie; Mapeta, Rutendo; Armstrong, Ruth; Noorani, Sadia; Murng, Sai; Santra, Saikat; Tuna, Salih; Johnson, Sally; Chong, Sam; Lear, Sara; Walker, Sara; Goddard, Sarah; Mangles, Sarah; Westbury, Sarah; Mehta, Sarju; Hackett, Scott; Nejentsev, Sergey; Moledina, Shahin; Bibi, Shahnaz; Meehan, Sharon; Othman, Shokri; Revel-Vilk, Shoshana; Holden, Simon; McGowan, Simon; Staines, Simon; Savic, Sinisa; Burns, Siobhan; Grigoriadou, Sofia; Papadia, Sofia; Ashford, Sofie; Schulman, Sol; Ali, Sonia; Park, Soo-Mi; Davies, Sophie; Stock, Sophie; Ali, Souad; Deevi, Sri V. V.; Graf, Stefan; Ghio, Stefano; Wort, Stephen J.; Jolles, Stephen; Austin, Steve; Welch, Steve; Meacham, Stuart; Rankin, Stuart; Walker, Suellen; Seneviratne, Suranjith; Holder, Susan; Sivapalaratnam, Suthesh; Richardson, Sylvia; Kuijpers, Taco; Kuijpers, Taco W.; Bariana, Tadbir K.; Bakchoul, Tamam; Everington, Tamara; Renton, Tara; Young, Tim; Aitman, Timothy; Warner, Timothy Q.; Vale, Tom; Hammerton, Tracey; Pollock, Val; Matser, Vera; Cookson, Victoria; Clowes, Virginia; Qasim, Waseem; Wei, Wei; Erber, Wendy N.; Ouwehand, Willem H.; Astle, William; Egner, William; Turek, Wojciech; Henskens, Yvonne; Tan, YvonneShareSaveDe Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder2018-08-0134OAAIGregor, Anne; Sadleir, Lynette G.; Asadollahi, Reza; Azzarello-Burri, Silvia; Battaglia, Agatino; Ousager, Lilian Bomme; Boonsawat, Paranchai; Bruel, Ange-Line; Buchert, Rebecca; Calpena, Eduardo; Cogne, Benjamin; Dallapiccola, Bruno; Distelmaier, Felix; Elmslie, Frances; Faivre, Laurence; Haack, Tobias B.; Harrison, Victoria; Henderson, Alex; Hunt, David; Isidor, Bertrand; Joset, Pascal; Kumada, Satoko; Lachmeijer, Augusta M. A.; Lees, Melissa; Lynch, Sally Ann; Martinez, Francisco; Matsumoto, Naomichi; McDougall, Carey; Mefford, Heather C.; Miyake, Noriko; Myers, Candace T.; Moutton, Sebastien; Nesbitt, Addie; Novelli, Antonio; Orellana, Carmen; Rauch, Anita; Rosello, Monica; Saida, Ken; Santani, Avni B.; Sarkar, Ajoy; Scheffer, Ingrid E.; Shinawi, Marwan; Steindl, Katharina; Symonds, Joseph D.; Zackai, Elaine H.; Univ, Washington Ctr Mendelian Genomics D. D. D.; Reis, Andre; Sticht, Heinrich; Zweier, Christiane
2018-08-0134OAAIGregor, Anne; Sadleir, Lynette G.; Asadollahi, Reza; Azzarello-Burri, Silvia; Battaglia, Agatino; Ousager, Lilian Bomme; Boonsawat, Paranchai; Bruel, Ange-Line; Buchert, Rebecca; Calpena, Eduardo; Cogne, Benjamin; Dallapiccola, Bruno; Distelmaier, Felix; Elmslie, Frances; Faivre, Laurence; Haack, Tobias B.; Harrison, Victoria; Henderson, Alex; Hunt, David; Isidor, Bertrand; Joset, Pascal; Kumada, Satoko; Lachmeijer, Augusta M. A.; Lees, Melissa; Lynch, Sally Ann; Martinez, Francisco; Matsumoto, Naomichi; McDougall, Carey; Mefford, Heather C.; Miyake, Noriko; Myers, Candace T.; Moutton, Sebastien; Nesbitt, Addie; Novelli, Antonio; Orellana, Carmen; Rauch, Anita; Rosello, Monica; Saida, Ken; Santani, Avni B.; Sarkar, Ajoy; Scheffer, Ingrid E.; Shinawi, Marwan; Steindl, Katharina; Symonds, Joseph D.; Zackai, Elaine H.; Univ, Washington Ctr Mendelian Genomics D. D. D.; Reis, Andre; Sticht, Heinrich; Zweier, ChristianeShareSaveDe Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder2018-06-0137OAAIReijnders, Margot R. F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A. C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B. A.; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A. L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Luedecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W. E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M.; Cremer, Kirsten; Strom, Tim M.; Bird, Lynne M.; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F.; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L.; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S.; Edery, Patrick; Yap, Patrick; Terhal, Paulien A.; van der Spek, Peter J.; Lakeman, Phillis; Taylor, Rachel L.; Littlejohn, Rebecca O.; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P. A.; Kant, Sarina G.; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M. A.; Douzgou, Sofia; Wall, Steven A.; Kury, Sebastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Nellaker, Christoffer; Brunner, Han G.; Wilkie, Andrew O. M.
2018-06-0137OAAIReijnders, Margot R. F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A. C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B. A.; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A. L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Luedecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W. E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M.; Cremer, Kirsten; Strom, Tim M.; Bird, Lynne M.; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F.; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L.; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S.; Edery, Patrick; Yap, Patrick; Terhal, Paulien A.; van der Spek, Peter J.; Lakeman, Phillis; Taylor, Rachel L.; Littlejohn, Rebecca O.; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P. A.; Kant, Sarina G.; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M. A.; Douzgou, Sofia; Wall, Steven A.; Kury, Sebastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Nellaker, Christoffer; Brunner, Han G.; Wilkie, Andrew O. M.ShareSaveClinical and molecular consequences of disease-associated de novo mutations in SATB2GENETICS IN MEDICINE2017-08-0147OAAIBengani, Hemant; Handley, Mark; Alvi, Mohsan; Ibitoye, Rita; Lees, Melissa; Lynch, Sally Ann; Lam, Wayne; Fannemel, Madeleine; Nordgren, Ann; Malmgren, H.; Kvarnung, M.; Mehta, Sarju; McKee, Shane; Whiteford, Margo; Stewart, Fiona; Connell, Fiona; Clayton-Smith, Jill; Mansour, Sahar; Mohammed, Shehla; Fryer, Alan; Morton, Jenny; Grozeva, Detelina; Asam, Tara; Moore, David; Sifrim, Alejandro; McRae, Jeremy; Hurles, Matthew E.; Firth, Helen V.; Raymond, F. Lucy; Kini, Usha; Nellaker, Christoffer; FitzPatrick, David R.
GENETICS IN MEDICINEIF6.2
2017-08-0147OAAIBengani, Hemant; Handley, Mark; Alvi, Mohsan; Ibitoye, Rita; Lees, Melissa; Lynch, Sally Ann; Lam, Wayne; Fannemel, Madeleine; Nordgren, Ann; Malmgren, H.; Kvarnung, M.; Mehta, Sarju; McKee, Shane; Whiteford, Margo; Stewart, Fiona; Connell, Fiona; Clayton-Smith, Jill; Mansour, Sahar; Mohammed, Shehla; Fryer, Alan; Morton, Jenny; Grozeva, Detelina; Asam, Tara; Moore, David; Sifrim, Alejandro; McRae, Jeremy; Hurles, Matthew E.; Firth, Helen V.; Raymond, F. Lucy; Kini, Usha; Nellaker, Christoffer; FitzPatrick, David R.ShareSaveCOLEC10 is mutated in 3MC patients and regulates early craniofacial developmentPLOS GENETICS2017-03-1668OAAIMunye, Mustafa M.; Diaz-Font, Anna; Ocaka, Louise; Henriksen, Maiken L.; Lees, Melissa; Brady, Angela; Jenkins, Dagan; Morton, Jenny; Hansen, Soren W.; Bacchelli, Chiara; Beales, Philip L.; Hernandez-Hernandez, Victor
PLOS GENETICSIF3.7
2017-03-1668OAAIMunye, Mustafa M.; Diaz-Font, Anna; Ocaka, Louise; Henriksen, Maiken L.; Lees, Melissa; Brady, Angela; Jenkins, Dagan; Morton, Jenny; Hansen, Soren W.; Bacchelli, Chiara; Beales, Philip L.; Hernandez-Hernandez, VictorShareSaveHeterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new casesEPILEPSIA2017-02-0646OAAISymonds, Joseph D.; Joss, Shelagh; Metcalfe, Kay A.; Somarathi, Suresh; Cruden, Jamie; Devlin, Anita M.; Donaldson, Alan; DiDonato, Nataliya; Fitzpatrick, David; Kaiser, Frank J.; Lampe, Anne K.; Lees, Melissa M.; McLellan, Ailsa; Montgomery, Tara; Mundada, Vivek; Nairn, Lesley; Sarkar, Ajoy; Schallner, Jens; Pozojevic, Jelena; Parenti, Ilaria; Tan, Jeen; Turnpenny, Peter; Whitehouse, William P.; Zuberi, Sameer M.
EPILEPSIAIF6.6
2017-02-0646OAAISymonds, Joseph D.; Joss, Shelagh; Metcalfe, Kay A.; Somarathi, Suresh; Cruden, Jamie; Devlin, Anita M.; Donaldson, Alan; DiDonato, Nataliya; Fitzpatrick, David; Kaiser, Frank J.; Lampe, Anne K.; Lees, Melissa M.; McLellan, Ailsa; Montgomery, Tara; Mundada, Vivek; Nairn, Lesley; Sarkar, Ajoy; Schallner, Jens; Pozojevic, Jelena; Parenti, Ilaria; Tan, Jeen; Turnpenny, Peter; Whitehouse, William P.; Zuberi, Sameer M.ShareSaveResearch Directions
No research directions