학술논문

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ㅏ	あ a	ぁ	か ka	が ga	さ sa	ざ za	た ta	だ da		な na	は ha	ば ba	ぱ pa	ま ma	や ya	ゃ lya	ら ra	わ wa	ゎ lwa	ん n
l	い i	ぃ	き ki	ぎ gi	し si	じ zi	ち ti	ぢ di		に ni	ひ hi	び bi	ぴ pi	み mi			り ri
ㅜ	う u	ぅ	く ku	ぐ gu	す su	ず zu	つ tu	づ du	っ	ぬ nu	ふ hu	ぶ bu	ぷ pu	む mu	ゆ yu	ゅ lyu	る ru
ㅔ	え e	ぇ	け ke	げ ge	せ se	ぜ ze	て te	で de		ね ne	へ he	べ be	ぺ pe	め me			れ re
ㅗ	お o	ぉ	こ ko	ご go	そ so	ぞ zo	と to	ど do		の no	ほ ho	ぼ bo	ぽ po	も mo	よ yo	ょ lyo	ろ ro	を wo

	o	ㅋ	ㄱ	ㅅ	ㅈ	ㅌ	ㄷ	촉	ㄴ	ㅎ	ㅂ	ㅃ	ㅁ	야	ㄹ	와
ㅏ	ア a	ァ	カ ka	ガ ga	サ sa	ザ za	タ ta	ダ da		ナ na	ハ ha	バ ba	パ pa	マ ma	ヤ ya	ャ lya	ラ ra	ワ wa	ヮ lwa		ン n
l	イ i	ィ	キ ki	ギ gi	シ si	ジ zi	チ ti	ヂ di		ニ ni	ヒ hi	ビ bi	ピ pi	ミ mi			リ ri
ㅜ	ウ u	ゥ	ク ku	グ gu	ス su	ズ zu	ツ tu	ヅ du	ッ	ヌ nu	フ hu	ブ bu	プ pu	ム mu	ユ yu	ュ lyu	ル ru			ヴ vu
ㅔ	エ e	ェ	ケ ke	ゲ ge	セ se	ゼ ze	テ te	デ de		ネ ne	ヘ he	ベ be	ぺ pe	メ me			レ re
ㅗ	オ o	ォ	コ ko	ゴ go	ソ so	ゾ zo	ト to	ド do		ノ no	ホ ho	ボ bo	ポ po	モ mo	ヨ yo	ョ lyo	ロ ro	ヲ wo		ーー

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á	à	Á	À	é	è	É	È	ç	Ç	ê
스페인어
à	á	Á	é	É	í	Í	Ó	ó	Ú	ú	Ñ	ñ	ä	Ä

발행년	- (예 : 2010-2015)

Patterns, timing and predictors of recurrence following pancreaticoduodenectomy for pancreatic ductal adenocarcinoma: an international multicentre retrospective cohort study

Academic Journal

Labib, Peter L.Z.; Russell, Thomas B.; Denson, Jemimah L.; Puckett, Mark A.; Ausania, Fabio; Pando, Elizabeth; Roberts, Keith J.; Kausar, Ambareen; Mavroeidis, Vasileios K.; Bhogal, Ricky H.; Marangoni, Gabriele; Thomasset, Sarah C.; Frampton, Adam E.; Spalding, Duncan R.; Lykoudis, Pavlos; Maglione, Manuel; Alhaboob, Nassir; Srinivasan, Parthi; Bari, Hassaan; Smith, Andrew; Dominguez-Rosado, Ismael; Croagh, Daniel; Thakkar, Rohan G.; Gomez, Dhanny; Silva, Michael A.; Lapolla, Pierfrancesco; Mingoli, Andrea; Davidson, Brian R.; Porcu, Alberto; Shah, Nehal S.; Hamady, Zaed Z.; Al-Sarireh, Bilal A.; Serrablo, Alejandro; Aroori, Somaiah; Browning, Matthew; Mownah, Omar; Gonzalez-Abos Carolina Gonzalez-Abos, Carolina; Fernandes, Nair; Moller, Elsa G.; Taboada, Cristina D.; Pande, Rupaly; Alfarah, Jameel; Bandyopadhyay, Samik; Abdelrahim, Ahmed; Khan, Ayesha; Jordan, Caitlin; Rees, Jonathan R.E.; Doyle, Joseph; Blege, Harry; Cambridge, William; White, Olga; Blacker, Sarah; Blackburn, Jessie; Sweeney, Casie; Fehervari, Matyas; Pai, Madhava; Alghazawi, Laith; Onifade, Anjola; Field, Daniel; Gouda, Mohammed; Bellotti, Ruben; Hamid, Hytham K.S.; Ribaud, Julliette; Nair, Ashitha; Mariathasan, Michael; Grayson, Niamh; Ahmed, Hassan; Moriarty, Catherine; White, Louise; Priestley, Mark; Bode, Kerry; Sharp, Judith; Wragg, Rosie; Jackson, Beverley; Craven, Samuel; Guerrero, Alan; Moguel, Andre; Chan, Carlos; Jones, Michael; Buckley, Edward; Akter, Nasreen; Treherne, Kyle; Gordon, Gregory; Hughes, Daniel; Urbonas, Tomas; Brachini, Gioia; Caronna, Roberto; Chirletti, Piero; Pericleous, Stephanos; Patel, Krishna; Shaw, Conrad; Morare, Nolitha; Zaban, Mohamad K.; Perra, Teresa; Abd Kahar, Nurul N.; Hall, Thomas; Nadeem, Nabeegh; Karar, Shoura; Arshad, Ali; Yarwood, Adam; Hammoda, Mohammed; Artigas, Maria C.; Paterna-López, Sandra

HPB. 27(4):445-460

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Five-year recurrence/survival after pancreatoduodenectomy for pancreatic adenocarcinoma: does pre-existing diabetes matter? Results from the Recurrence After Whipple's (RAW) study

Academic Journal

Rajagopalan, Ashray; Aroori, Somaiah; Russell, Thomas B.; Labib, Peter L.; Ausania, Fabio; Pando, Elizabeth; Roberts, Keith J.; Kausar, Ambareen; Mavroeidis, Vasileios K.; Marangoni, Gabriele; Thomasset, Sarah C.; Frampton, Adam E.; Lykoudis, Pavlos; Maglione, Manuel; Alhaboob, Nassir; Bari, Hassaan; Smith, Andrew M.; Spalding, Duncan; Srinivasan, Parthi; Davidson, Brian R.; Bhogal, Ricky H.; Dominguez, Ismael; Thakkar, Rohan; Gomez, Dhanny; Silva, Michael A.; Lapolla, Pierfrancesco; Mingoli, Andrea; Porcu, Alberto; Shah, Nehal S.; Hamady, Zaed Z.R.; Al-Sarrieh, Bilal; Serrablo, Alejandro; Croagh, Daniel; Lead Unit; Streeter, Adam; Denson, Jemimah; Puckett, Mark; Zhou, Shang-Ming; Browning, Matthew; Collaborating Units; Gonzalez-Abos, Carolina; Fernandes, Nair; Moller, Elsa G.; Taboada, Cristina D.; Roberts, Keith; Pande, Rupaly; Alfarah, Jameel; Bandyopadhyay, Samik; Abdelrahim, Ahmed; Khan, Ayesha; Jordan, Caitlin; Rees, Jonathan R.E.; Blege, Harry; Thomasset, Sarah; Cambridge, William; White, Olga; Frampton, Adam; Blacker, Sarah; Blackburn, Jessie; Sweeney, Casie; Field, Daniel; Gouda, Mohammed; Bellotti, Ruben; Hamid, Hytham K.S.; Ahmed, Hassan; Smith, Andrew; Moriarty, Catherine; White, Louise; Priestley, Mark; Bode, Kerry; Sharp, Judith; Wragg, Rosie; Jackson, Beverley; Craven, Samuel; Fehervari, Matyas; Pai, Madhava; Alghazawi, Laith; Onifade, Anjola; Ribaud, Julliette; Nair, Ashitha; Mariathasan, Michael; Grayson, Niamh; Davidson, Brian; Pericleous, Stephanos; Patel, Krishna; Shaw, Conrad; Morare, Nolitha; Zaban, Mohamad K.; Bhogal, Ricky; Doyle, Joseph; Guerrero, Alan; Moguel, Andre; Chan, Carlos; Jones, Michael; Buckley, Edward; Akter, Nasreen; Treherne, Kyle; Gordon, Gregory; Silva, Michael; Hughes, Daniel; Urbonas, Tomas; Brachini, Gioia; Caronna, Roberto; Chirletti, Piero; Perra, Teresa; Abd Kahar, Nurul N.; Hall, Thomas; Nadeem, Nabeegh; Hamady, Zaed; Karar, Shoura; Arshad, Ali; Yarwood, Adam; Hammoda, Mohammed; Artigas, Maria; Paterna-López, Sandra

HPB. 26(8):981-989

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Patterns, timing and predictors of recurrence following pancreaticoduodenectomy for distal cholangiocarcinoma: An international multicentre retrospective cohort study

Academic Journal

Browning, Matthew ; Mownah, Omar ; Gonzalez-Abos, Carolina ; Fernandes, Nair ; Moller, Elsa Garcia ; Taboada, Cristina Dopazo ; Pande, Rupaly ; Alfarah, Jameel ; Bandyopadhyay, Samik ; Abdelrahim, Ahmed ; Khan, Ayesha ; Jordan, Caitlin ; Rees, Jonathan RE. ; Doyle, Joseph ; Blege, Harry ; Cambridge, William ; White, Olga ; Blacker, Sarah ; Blackburn, Jessie ; Sweeney, Casie ; Fehervari, Matyas ; Pai, Madhava ; Alghazawi, Laith ; Onifade, Anjola ; Field, Daniel ; Gouda, Mohammed ; Maglione, Manuel ; Hamid, Hytham KS. ; Ribaud, Julliette ; Nair, Ashitha ; Mariathasan, Michael ; Grayson, Niamh ; Ahmed, Hassan ; Moriarty, Catherine ; White, Louise ; Priestley, Mark ; Bode, Kerry ; Sharp, Judith ; Wragg, Rosie ; Jackson, Beverley ; Craven, Samuel ; Guerrero, Alan ; Moguel, Andre ; Chan, Carlos ; Jones, Michael ; Buckley, Edward ; Akter, Nasreen ; Treherne, Kyle ; Gordon, Gregory ; Hughes, Daniel ; Urbonas, Tomas ; Brachini, Gioia ; Caronna, Roberto ; Chirletti, Piero ; Pericleous, Stephanos ; Patel, Krishna ; Shaw, Conrad ; Morare, Nolitha ; Zaban, Mohamad K. ; Perra, Teresa ; Abd Kahar, Nurul Nadhirah ; Hall, Thomas ; Nadeem, Nabeegh ; Karar, Shoura ; Arshad, Ali ; Yarwood, Adam ; Hammoda, Mohammed ; Artigas, Maria Consuelo ; Paterna-López, Sandra ; Labib, Peter LZ. ; Russell, Thomas B. ; Denson, Jemimah L. ; Puckett, Mark A. ; Ausania, Fabio ; Pando, Elizabeth ; Roberts, Keith J. ; Kausar, Ambareen ; Mavroeidis, Vasileios K. ; Bhogal, Ricky H. ; Marangoni, Gabriele ; Thomasset, Sarah C. ; Frampton, Adam E. ; Spalding, Duncan R. ; Lykoudis, Pavlos ; Bellotti, Ruben ; Alhaboob, Nassir ; Srinivasan, Parthi ; Bari, Hassaan ; Smith, Andrew ; Dominguez-Rosado, Ismael ; Croagh, Daniel ; Thakkar, Rohan G. ; Gomez, Dhanny ; Silva, Michael A. ; Lapolla, Pierfrancesco ; Mingoli, Andrea ; Davidson, Brian R. ; Porcu, Alberto ; Shah, Nehal S. ; Hamady, Zaed Z. ; Al-Sarireh, Bilal A. ; Serrablo, Alejandro ; Aroori, Somaiah

In European Journal of Surgical Oncology June 2024 50(6)

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Serious complications of pancreatoduodenectomy correlate with lower rates of adjuvant chemotherapy: Results from the recurrence after Whipple's (RAW) study

Academic Journal

Labib, Peter L. ; Russell, Thomas B. ; Streeter, Adam ; Denson, Jemimah ; Puckett, Mark ; Zhou, Shang-Ming ; Browning, Matthew ; Aroori, Somaiah ; Ausania, Fabio ; Pando, Elizabeth ; Roberts, Keith ; Kausar, Ambareen ; Mavroeidis, Vasileios K. ; Marangoni, Gabriele ; Thomasset, Sarah ; Frampton, Adam ; Lykoudis, Pavlos ; Maglione, Manuel ; Alhaboob, Nassir ; Bari, Hassaan ; Smith, Andrew ; Spalding, Duncan ; Srinivasan, Parthi ; Davidson, Brian ; Bhogal, Ricky ; Croagh, Daniel ; Dominguez, Ismael ; Thakkar, Rohan ; Gomez, Dhanny ; Silva, Michael ; Lapolla, Pierfrancesco ; Mingoli, Andrea ; Porcu, Alberto ; Shah, Nehal Sureshkumar ; Hamady, Zaed ; Al-Sarrieh, Bilal ; Serrablo, Alejandro ; Gonzalez-Abos, Carolina ; Fernandes, Nair ; Moller, Elsa Garcia ; Taboada, Cristina Dopazo ; Pande, Rupaly ; Alfarah, Jameel ; Bandyopadhyay, Samik ; Abdelrahim, Ahmed ; Khan, Ayesha ; Jordan, Caitlin ; Rees, Jonathan R.E. ; Blege, Harry ; Cambridge, William ; White, Olga ; Blacker, Sarah ; Blackburn, Jessie ; Sweeney, Casie ; Field, Daniel ; Gouda, Mohammed ; Bellotti, Ruben ; Hamid, Hytham K.S. ; Ahmed, Hassan ; Moriarty, Catherine ; White, Louise ; Priestley, Mark ; Bode, Kerry ; Sharp, Judith ; Wragg, Rosie ; Jackson, Beverley ; Craven, Samuel ; Fehervari, Matyas ; Pai, Madhava ; Alghazawi, Laith ; Onifade, Anjola ; Ribaud, Julliette ; Nair, Ashitha ; Mariathasan, Michael ; Grayson, Niamh ; Pericleous, Stephanos ; Patel, Krishna ; Shaw, Conrad ; Morare, Nolitha ; Zaban, Mohamad Khish ; Doyle, Joseph ; Guerrero, Alan ; Moguel, Andre ; Chan, Carlos ; Jones, Michael ; Buckley, Edward ; Akter, Nasreen ; Treherne, Kyle ; Gordon, Gregory ; Hughes, Daniel ; Urbonas, Tomas ; Brachini, Gioia ; Caronna, Roberto ; Chirletti, Piero ; Perra, Teresa ; Abd Kahar, Nurul Nadhirah ; Hall, Thomas ; Nadeem, Nabeegh ; Karar, Shoura ; Arshad, Ali ; Yarwood, Adam ; Hammoda, Mohammed ; Artigas, Maria ; Paterna-López, Sandra ; Roberts, Keith J. ; Thomasset, Sarah C. ; Frampton, Adam E. ; Smith, Andrew M. ; Davidson, Brian R. ; Bhogal, Ricky H. ; Silva, Michael A. ; Shah, Nehal S. ; Hamady, Zaed Z.R.

In European Journal of Surgical Oncology September 2023 49(9)

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Predictors of actual five-year survival and recurrence after pancreatoduodenectomy for ampullary adenocarcinoma: results from an international multicentre retrospective cohort study

Academic Journal

Russell, Thomas B.; Labib, Peter L.; Denson, Jemimah; Ausania, Fabio; Pando, Elizabeth; Roberts, Keith J.; Kausar, Ambareen; Mavroeidis, Vasileios K.; Marangoni, Gabriele; Thomasset, Sarah C.; Frampton, Adam E.; Lykoudis, Pavlos; Maglione, Manuel; Alhaboob, Nassir; Bari, Hassaan; Smith, Andrew M.; Spalding, Duncan; Srinivasan, Parthi; Davidson, Brian R.; Bhogal, Ricky H.; Croagh, Daniel; Dominguez, Ismael; Thakkar, Rohan; Gomez, Dhanny; Silva, Michael A.; Lapolla, Pierfrancesco; Mingoli, Andrea; Porcu, Alberto; Shah, Nehal S.; Hamady, Zaed Z.R.; Al-Sarrieh, Bilal; Serrablo, Alejandro; Aroori, Somaiah; Streeter, Adam; Puckett, Mark; Browning, Matthew G.; González-Abós, Carolina; Fernandes, Nair; Moller, Elsa G.; Taboada, Cristina D.; Pande, Rupaly; Alfarah, Jameel; Bandyopadhyay, Samik; Abdelrahim, Ahmed; Khan, Ayesha; Jordan, Caitlin; Rees, Jonathan R.E.; Blege, Collaborator: Harry; Thomasset, Sarah; Cambridge, William; White, Olga; Frampton, Adam; Blacker, Sarah; Blackburn, Jessie; Sweeney, Casie; Field, Daniel; Gouda, Mohammed; Bellotti, Ruben; Hamid, Hytham K.S.; Ahmed, Hassan; Smith, Andrew; Moriarty, Catherine; White, Louise; Priestley, Mark; Bode, Kerry; Sharp, Judith; Wragg, Rosie; Jackson, Beverley; Craven, Samuel; Fehervari, Matyas; Pai, Madhava; Alghazawi, Laith; Onifade, Anjola; Ribaud, Julliette; Nair, Ashitha; Mariathasan, Michael; Grayson, Niamh; Davidson, Brian; Pericleous, Stephanos; Krishna Patel; Shaw, Conrad; Morare, Nolitha; Zaban, Mohamad K.; Bhogal, Ricky; Doyle, Joseph; Guerrero, Alan; Moguel, Andre; Chan, Carlos; Jones, Michael; Buckley, Edward; Akter, Nasreen; Treherne, Kyle; Gordon, Gregory; Silva, Michael; Hughes, Daniel; Urbonas, Tomas; Brachini, Gioia; Caronna, Roberto; Chirletti, Piero; Perra, Teresa; Abd Kahar, Nurul N.; Hall, Thomas; Nadeem, Nabeegh; Hamady, Zaed; Karar, Shoura; Arshad, Ali; Yarwood, Adam; Hammoda, Mohammed; Artigas, Maria; Paterna-LÃ³pez, Sandra

HPB. 25(7):788-797

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Fluid Optimisation in Emergency Laparotomy (FLO-ELA) Trial: study protocol for a multi-centre randomised trial of cardiac output-guided fluid therapy compared to usual care in patients undergoing major emergency gastrointestinal surgery

Academic Journal

Edwards, Mark R.; Forbes, Gordon; Walker, Neil; Morton, Dion G.; Mythen, Monty G.; Murray, Dave; Anderson, Iain; Mihaylova, Borislava; Thomson, Ann; Taylor, Matt; Hollyman, Marianne; Phillips, Rachel; Young, Keith; Kahan, Brennan C.; Pearse, Rupert M.; Grocott, Michael P. W.; Skubala, Alexandra; Tapley, Patrick; Kellett, Suzanne; Bolger, Clare; Burnish, Rachel; Collings, Nikki; Cumpstey, Andrew; Wong, Hannah; Rehnberg, Vic; Lees, Jessica; Salmon, Karen; Wee, Naomi; Harrison, Sarah; Gan, Li Ping; Halloran, Claire; Tsiopanis, Georgios; Seifalian, Said; Webster, Richard; Knight, Martin; Theobald, Hannah; Clark, Anna; Nicholls, Thomas; Willey, James; Beeby, Sophia; Bracegirdle, Luke; Stoddard, Kate; Roberts, Belinda; Baker, Alice; Diaper, Norma; Biss, Jonathan; Carter, Michael; Riccio, Francesca; Green, James; Johnstone, Lucy; Rand, Jade; Wisniewska, Kasia; Gibson, Grant; Bateson, Hannah; Beveridge, Michelle; Marani, Martyna; Monger, Isabel; Burtt, Agnieszka; Minto, Gary; Christie, Iain; Fergusson, Anna; Patrick, Abigail; Cleland, Stuart; Eglinton, Charlotte; Wilmshurst, Natasha; Reed, Fiona; Smith, Joanne; Ratcliffe, Anna; Freeman, Elizabeth; Kingdon, Jennie; Humphreys, James; Nelson, Sarah; Jennings, Adrian; Watts, Angela; Moores, Andrew; Smith, Lucy; Wright, Jenny; Sonksen, Julian; Moody, Caroline; Harrington, Philip; Lee, Jack; Kozman, Nadim; Riddell, Zoe; Brennan, Catherine; Nathoo, Shakira; Anumakonda, Vikram; Gait, Andrea; Pierson, Richard; Patel, Raj; Plant, Lee; Agarwal, Nipun; Ihlenfeldt, Hadassah; Heggie, James; Olive, Rachel; Pick, Joseph; Hinsley, Sally; Calthorpe, Nicola; Matthews, Julie; Gardner, Wendy; Topham, Charlotte; Jones, Edward; Yates, Elliot; Sekhsaria, Sachin; Amer, Mohamed; Pemberton, Phil; Coffin, Nicholas; Hutchinson-Bazely, Halden; Pearson, Karen June; Edwards, Tracy; Fitzmaurice, Beth; Pierson, Anna; Archer, Katie; Ahmed, Omar; Mohammed, Sajid Khan; Hollis, Alex; Weedon, Stephanie; Hillier, David; Lau, Joanna; Amin, Vishal; Dixon, Laura; Seager, Joseph; Tyler, Joe; Forsey, Stacey; Parry, N.; Mughal, Aamer; Goh, Jialuen; Tiller, Rose; Taylor, Daniel; Rallage, Hasini; Leech, Alexandra; Harris, John; Gabriel, Claire; Clarke, Sheron; Pagett, Katherine; Rudnick, Thomas; Brown, Nick; Hare, Sarah; Lusby, Eimhear; Bayliss, Edward; Ward, Christopher; Bandopadhyay, Rahul; Wilson, Kerrie; Floyd, Theodore; Ahmed, Iram; Hatton, Tom; Szeszo, Malgorzata; Kyere-Diabour, Thyra; Sumner, Daniel; Lawrence, Tessa; Sutton, Emma; Ng, Winston; Kapsokalyuas, Ioannis; Carter, Anthony; Kansal, Anamika; Bernard, Leon; Harrison, Siew-Ling; Feneley, Andrew; Cooke, Owen; Hawley, Jennifer; Berry, Sophie; Adams, Laura; Hansen, Thomas; Bothma, Pieter; North, Julie; Ferreira, Teresa; Verma, Karan; Surendran, Karthik; Arumugam, Aruthy; Jamadarkhana, Sunil; Cruz, Carina; Baker, Pearl; Brice, Naomi; Ashton, Antony; Mupudzi, McDonald; Kemp, Juliette; Rahl, Ajay; Griffin, Denise; Stokes, Aaron; Ritchie, Keith; Venkatasubramaniam, Arcot; Cheek, Robert; Brown, Madonna; Trodd, Dawn; Brown, Caroline Wrey; Martin, Jane; Hammond, Sam; Mason, Louisa; Muchenje, Nycola; Breach, Hamish; Colston, Amanda; Watters, Malcolm; Miles, Edwards; Marshall, Emma; Storey, Madeleine; Hawley, Victoria; Gomm, Edward; Potter, Claire; Knowles, Melanie; Beech, Edward; van Breda, Peter; Langton, Helen; Suarez, Nicholas; Rowe, Matthew; Tanase, Andrei; Barnes, Jonathan; Earl, David; Stephenson, Lorraine; Burdett, Tracy; Huntley, Martin; Cottrell, Emma; Tan, Hao Ern; Yeung, Joyce; Kailey, Jasraj; Melody, Teresa; Gresty, Jo; Sampson, Julia; Atterbury, Katie; Sutton, Peter; Carling, Natalie; Reeves, Eleanor; Groves, Carl; Crossmann, Daniel; Ballinger, Sarah; Smith, Rachel; Thomas, Marie; Rook, Will; Mooradun, Mohamed; Khan, Qasim; Qureshi, Arif; Fenton-May, Llewellyn; Boulton, Adam; Whitney, Daniel; Sannakki, Shilpa; Avinash, Manekar; Lee, Nikiesha; Sharma, Neha; Magham, Srinivas; Moncaster, Gareth; Boulton, Rebecca; Sewell, Terri-Ann; Lovegrove, Wayne; Tansley, John; Watson, Nick; Shelton, Sarah; Heeley, Cheryl; Buckley, Philip; Slack, Katie; Holmes, Rebecca; Palfreman, Andrea; Smith, Christopher; Gill, Mandy; Smith, Sue; Brear, Tracy; Kirk, Jill; Holmes, Megan; Goodwin, Camelia; Flynn, Margaret; Wynter, Inez; Bennett, Kaytie; Harris, Stephen; Pawley, Corrine; Doble, Patricia; Tait, Moira; Gibbs, Richard; Edwards, Tom; Mackey, Paul; Hunt, Miss Louise; Hutter, Jo; Smyth, Ed; Noble, Hamish; Judd, Thomas; Arkell, Rose; Thomas, Owen; Watura, Karen; Vaida, Marius; Rahman, Suehana; Sufi, Saaidullah; Filipe, Helder; Eastgate, Christine; McNeil, Margaret; Howey, Stephen; Pakou, Glykeria; Mingo, Sara; Maharajh, Amitaa; Grecu, Irina; Hammond, Samantha; Hanson, Susan; Ottaway, Julia; Burgess, Victoria; Fry, James; Watson, Geoff; Wessels, Francois; Cutler, Hugh; Goldsmith, Arthur; Howes, Mark; Sivasubramaniam, Subash; Colley, Julie; Porter, Jenny; Krishnan, K. P.; Aldridge, Kerrie; Willetts, Sylvia; Zullo, Carol; Thompson, Christopher; Shanmugasundaram, Pradeep; Abrams, Judith; Manso, Katarina; Razzaque, Jamil; Scott, Sally; Hambrook, Geraldine; McKerrow, Elizabeth; Ali, Tahir; Ankers, Alastair; Ranganathan, Mohan; Bellam, Sunil; Mason, Sophie; Marriott, Paul; Robley, Richard; Campbell, Bridget; Parsons, Penny; Ramcharan, Sean; Mohamed Anver, Susanne; Page, Valerie; Walker, Elaine; Zhao, Xiaobei; Osborne, Laura; Parker, Beena; Kaur, Rupinder; Kulakauskaite-Rasteniene, Gitana; Patel, Mehul; Lowe, Alastair; Edmunds, Emma; Hills, Kieran; Klimovskij, Michail; Ranns, Christopher; Ganesh, Radha; Jones, David; Gibson, Jamie; Sinclair, Janet; Burton, Karen; De Freitas, Toni; Dryden, Leon; Robinson, Amelia; Udezue, Nnamdi; Faccini, Tim; Majumdar, Moon-Moon; Death, Kelly; Baba, Hide; Narendran, Jaydraman; Claxton, Bret; Brennan, Andrew; Akeroyd, Louise; Cooper, Sarah; Farrow, Catherine; Ilyas, Carl; Morgan, James; Montgomery, Craig; Wilkinson, Brian; Dereix, John; Eaves-Lai, Karen; Pye, Kate; Craske, David; Panesar, Paul; Hart, Peter; Stubbington, Mark; Storton, Kim; Stewart, Kelvin; Graham, Laura; Bano, Shereen; Neal, Robert; Ryan-Wakeling, Declan; Chauhan, Varun; Shaw, Michael; Aduse-Poku, Maame; Kang, Soo Jin; Arbane, Gill; El-Boghdadly, Kariem; Kelly, Paul; Patel, Jaimin; Sicinski, Marcin; John, Martin; Ibrahim, Mark; Aziz, Emad; Sengupta, Sohini; Baldwin, Melissa; Dixson, Toby; D'souza, Leslie; Taylor, Charlotte; Rameseur, Suneil; Bidd, Heena; Glover, Guy; Morley, Andrew; Lukosiute, Asta; Janowicz, Anna; Alexander, Tamara; Lipton, Joe; Anandanadan, Rathai; Seddon, Dale; Phillips, Alexander; Davies, Louise; Bhattacharyya, Sanjoy; Yoon, Soo; Fraser, Sian; Stilwell, Alex; Shoeman, Karin; Hews, Justin; Sivakumar, Sivanth; Chin, Floju; Dudley, Declan; Colville, Gary; Sawana, Abegail; Dudziak, Jakob; O'Carroll-Kuehn, Britta; Jeganathan, Chandran; Richards, Nicole; Swain, Andrew; Quamina, Charlotte; Sivanandan, Indu; Whiteley, Simon; Wilby, Elizabeth; Trumper, Charlotte; Varley, Kate; Lotia, Sharmeen; Henry, Eugene; Schofield, Claire; Ntima, Ntima; Jundi, Omar; Schorah, Amelia; McMenamin, Luke; Jackson, Robert; Jones, John; Colquhoun, Suzie; Faria, Joana; Youngs, Nora; Qadeer, Aneesha; Sharp, Judith; Wragg, Rosie; Naylor, Michelle; Jackson, Beverley; Moriarty, Catherine; White, Louise; Wade, Laura; White, Brian; Craven, Samuel; Carle, Coralie; Pope, Alan; Chen, Mark; Butterworth-Cowin, Nicola; Sachdeva, Rajneesh; Ellis, Karen; Bergin, Colin; Reeves, Emma; Bamford, Amy; Ventura, Maximina; Whitehouse, Tony; Carrera, Ronald; Spruce, Elaine; Despy, Liesl; Harkett, Samantha; Foster, Morgan; Athanasiou, Antonios; Malik, Kamran; Porter, Stephanie; Mullhi, Randeep; Sadler, Craig; Gasbey, James; McGhee, Christopher; Patel, Jignesh; Mason, Tracy; Smith, Hazel; Efimov, Alexandra; Neal, Aoife; Goundry, Stephanie; Ross-Anderson, Davina; MacGloin, Kath; Pennington, James; Martin, Tim; Niebrzegowska, Edyta; Gooneratne, Mevan; Sharma, Chhaya; MacDonald, Neil; Whalley, Jan; Dias, Priyanthi; Ackland, Gareth; Shirley, Peter; Stephens, Tim; Zolfaghari, Parjam; Dunkley, Steven; Reynolds, Toby; Walton, Henry; Smith, Matthew; Bali, Shreya; Hui, Sara; Bhatia, Ravi; Torrance, Hew; Fernandez, Maria; Uddin, Ruzena; Santos, Filipa; Arrieta, Amaia; Barrett, Stephen; Cashmore, Richard; Richards, Eleanor; Seidu, Fatima; McIlroy, Edward; Urwin, Thomas; Samuel, John; Brooks, Katherine; Gravell, Natalie; Blackwood, Douglas; Sanghera, Tanj; Joseph, Mareena; Jalaly, Aisha; Nugent, Hannah; Goodman, Ben; Scott, Ashley; Clement, Ian; Dunn, Leigh; Harrison, Abigail; Hays, Carole; Babio-Galan, Maite; Todd, Sarah; Dawson, Lindsay; Henderson, Stephanie; Arora, Kapil; Diwaker, Subramani; Marcangelo, Sam; Harvey, James; Dalton, Mark; Hyams, Jeremy; Shrestha, Tara; Zwiggelaar, Kimberley; Heggie, Laura; Sinclair, Rhona; Brown, Ben; Cope, Sean; Traill, Steven; Durrand, James; Sheriff, Julie; Allan, Ashley; Woods, Lindsey; Chuter, Erin; Betts, Rebecca; Thistlethwaite, Rossalyn; 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Smith, Leanne; Reddy, Amie; McCaig, William; Murrant, Harriet; Masoud, Ammara; Davis, Mia; Pradhan, Debasis; Rudkin, Joanne; Byrne, Matthew; Tsinaslaniois, Georgios; Bafitis, Vasileios; Black, Christopher; George, Cassandra; Keltos, Marketa; Letts, Maria; Allinson, Victoria; Foulds, Angela; Gittus, Sophie; Aneesh, Lakshmi; Nash, Ayman; Kumar, Prathiban; Graham, James; Donnaly, Andrew; Grigg, Martin; Singh, Ariana; Chawla, Aastha; McGrady, Calum; Walker, Nicola; Brennan, Christopher

Trials. May 6, 2023, Vol. 24 Issue 1

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Kerstein, Lauren H.: ROSIE THE DRAGON AND CHARLIE MAKE WAVES

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Kirkus Reviews. April 15, 2019

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Kenney, Sophie

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Rosie the Dragon and Charlie Make Waves

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Postoperative complications after pancreatoduodenectomy for malignancy: results from the Recurrence After Whipple’s (RAW) study

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Thomas B Russell; Peter L Labib; Jemimah Denson; Adam Streeter; Fabio Ausania; Elizabeth Pando; Keith J Roberts; Ambareen Kausar; Vasileios K Mavroeidis; Gabriele Marangoni; Sarah C Thomasset; Adam E Frampton; Pavlos Lykoudis; Manuel Maglione; Nassir Alhaboob; Hassaan Bari; Andrew M Smith; Duncan Spalding; Parthi Srinivasan; Brian R Davidson; Ricky H Bhogal; Daniel Croagh; Ismael Dominguez; Rohan Thakkar; Dhanny Gomez; Michael A Silva; Pierfrancesco Lapolla; Andrea Mingoli; Alberto Porcu; Nehal S Shah; Zaed Z R Hamady; Bilal A Al-Sarrieh; Alejandro Serrablo; Somaiah Aroori; David Sheridan; Mark Puckett; Matthew G Browning; Carolina Gonzalez-Abos; Nair Fernandes; Elsa Garcia Moller; Cristina Dopazo Taboada; Rupaly Pande; Jameel Alfarah; Samik Bandyopadhyay; Ahmed Abdelrahim; Ayesha Khan; Caitlin Jordan; Jonathan R E Rees; Harry Blege; William Cambridge; Olga White; Sarah Blacker; Jessie Blackburn; Casie Sweeney; Daniel Field; Mohammed Gouda; Ruben Bellotti; Hytham K S Hamid; Hassan Ahmed; Catherine Moriarty; Louise White; Mark Priestley; Kerry Bode; Judith Sharp; Rosie Wragg; Beverley Jackson; Samuel Craven; Matyas Fehervari; Madhava Pai; Laith Alghazawi; Anjola Onifade; Julliette Ribaud; Ashitha Nair; Michael Mariathasan; Niamh Grayson; Stephanos Pericleous; Krishna Patel; Conrad Shaw; Nolitha Morare; Mohamad Khish Zaban; Joseph Doyle; Alan Guerrero; Andre Moguel; Carlos Chan; Michael Jones; Edward Buckley; Nasreen Akter; Kyle Treherne; Gregory Gordon; Daniel Hughes; Tomas Urbonas; Gioia Brachini; Roberto Caronna; Piero Chirletti; Teresa Perra; Nurul Nadhirah Abd Kahar; Thomas Hall; Nabeegh Nadeem; Shoura Karar; Ali Arshad; Bilal Al-Sarrieh; Adam Yarwood; Mohammed Hammoda; Maria Artigas; Sandra Paterna-López

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Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

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Anne H. O’Donnell-Luria; Lynn S. Pais; Víctor Faundes; Jordan C. Wood; Abigail Sveden; Victor Luria; Rami Abou Jamra; Andrea Accogli; Kimberly Amburgey; Britt Marie Anderlid; Silvia Azzarello-Burri; Alice A. Basinger; Claudia Bianchini; Lynne M. Bird; Rebecca Buchert; Wilfrid Carre; Sophia Ceulemans; Perrine Charles; Helen Cox; Lisa Culliton; Aurora Currò; Florence Demurger; James J. Dowling; Benedicte Duban-Bedu; Christèle Dubourg; Saga Elise Eiset; Luis F. Escobar; Alessandra Ferrarini; Tobias B. Haack; Mona Hashim; Solveig Heide; Katherine L. Helbig; Ingo Helbig; Raul Heredia; Delphine Héron; Bertrand Isidor; Amy R. Jonasson; Pascal Joset; Boris Keren; Fernando Kok; Hester Y. Kroes; Alinoë Lavillaureix; Xin Lu; Saskia M. Maas; Gustavo H.B. Maegawa; Carlo L.M. Marcelis; Paul R. Mark; Marcelo R. Masruha; Heather M. McLaughlin; Kirsty McWalter; Esther U. Melchinger; Saadet Mercimek-Andrews; Caroline Nava; Manuela Pendziwiat; Richard Person; Gian Paolo Ramelli; Luiza L.P. 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Karen Temple; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles

American Journal of Human Genetics, 104, 6, pp. 1210-1222
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
O'Donnell-Luria, A H, Pais, L S, Faundes, V, Wood, J C, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, B M, Azzarello-Burri, S, Basinger, A A, Bianchini, C, Bird, L M, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Currò, A, Deciphering Developmental Disorders (DDD) Study, Demurger, F, Dowling, J J, Duban-Bedu, B, Dubourg, C, Eiset, S E, Escobar, L F, Ferrarini, A, Haack, T B, Hashim, M, Heide, S, Helbig, K L, Helbig, I, Heredia, R, Héron, D, Isidor, B, Jonasson, A R, Joset, P, Keren, B, Kok, F, Kroes, H, Lavillaureix, A, Lu, X, Maass, S, Maegawa, G H B, Marcelis, C M, Mark, P, Masruha, M, McLaughlin, H, McWalter, K, Melchinger, E, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, G P, Ramos, L, Rauch, A, Reavey, C, Renieri, A, Rieß, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, J C, Telegrafi, A, Thiffault, I, Trauner, D, van der Linden Jr., H, van Koningsbruggen, S, Vilard, L, Vogel, I, Vogt, J, Weber, Y G, Wentzensen, I, Widjaja, E, Zak, J, Baxter, S, Banka, S & Rodan, L H 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021

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Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Academic Journal

Lynette G. Sadleir; Emily I. Mountier; Deepak Gill; Suzanne Davis; Charuta Joshi; Catherine DeVile; Manju A. Kurian; Simone Mandelstam; Elaine Wirrell; Katherine C. Nickels; Hema R. Murali; Gemma Carvill; Candace T. Myers; Heather C. Mefford; Ingrid E. Scheffer; A. Paul Bevan; Abhijit Dixit; Abigail Pridham; Adrian R. Tivey; Ajoy Sarkar; Alan Donaldson; Alan Fryer; Alejandro Sifrim; Alex Henderson; Alex Magee; Alexis Duncan; Alison Kraus; Alison Male; Alison Ross; Amanda Collins; Anand Saggar; Andrea Coates; Andrea Nemeth; Andrew Fry; Andrew Green; Andrew Jackson; Andrew Norman; Angela Barnicoat; Angela Brady; Angela Douglas; Angus Clarke; Angus Dobbie; Ann Selby; Anna Middleton; Anne Lampe; Anneke Seller; Annie Procter; Karenza Evans; Anthony Vandersteen; Astrid Weber; Audrey Smith; Audrey Torokwa; Beckie Kaemba; Becky Treacy; Beiyuan Fu; Ben Hutton; Birgitta Bernhard; Bronwyn Kerr; Bruce Castle; Carina Donnelly; Carol Gardiner; Carol Scott; Carole Brewer; Caroline F. Wright; Caroline Langman; Caroline Ogilvie; Caroline Pottinger; Carolyn Tysoe; Cat Taylor; Catherine McWilliam; Charles Shaw-Smith; Charu Deshpande; Cheryl Longman; Cheryl Sequeira; Chirag Patel; Chris Bennett; Chris Nellåker; Christopher Wragg; Claire Kirk; Claire Turner; Daniel King; Daniel M. Barrett; Daniel Perrett; Daniela T. Pilz; Danielle Walker; David Baty; David Bohanna; David Bourn; David Goudie; David J. Bunyan; David Jones; David Moore; David R. FitzPatrick; Debbie Rice; Debbie Shears; Deirdre Cilliers; Deirdre Donnelly; Denise Williams; Derek Lim; Dhavendra Kumar; Emma McCann; Dian Donnai; Diana Baralle; Diana Johnson; Diana Rajan; Diana Wellesley; Dominic J McMullan; Douglas Simpkin; Dragana Josifova; Dylan de Vries; Eamonn Sheridan; Eddy Maher; Edward Blair; Eileen Roberts; Elena Chatzimichali; Elena Prigmore; Elisabeth Rosser; Elizabeth Jones; Elizabeth Sweeney; Emily Wilkinson; Emma Gray; Pipelines Staff; Emma Hobson; Emma Kivuva; Emma Miles; Emma Shearing; Emma Wakeling; Esther Kinning; Eugene Bragin; Eve L. Coomber; Fentang Yang; Fiona Connell; Fiona Stewart; Frances Elmslie; Frances Flinter; G. Jawahar Swaminathan; Gail Kirby; Gareth Cross; Gemma Devlin; Geoff Woods; Georgina Hollingsworth; Gillian Roberts; Gordon Lowther; Harinder Gill; Hayley Archer; Helen Cox; Helen Firth; Helen Kingston; Helen Murphy; Helen Stewart; Helen V. Firth; Hellen Purnell; Hood Mugalaasi; Ian Ellis; Ingrid Scurr; Ingrid Simonic; Irina Colgiu; Jacqueline Eason; Jana Awada; Jane Hurst; Jeffrey C. Barrett; Jenny Morton; Jenny Thomson; Jeremy McRae; Jill Clayton-Smith; Joan Paterson; Joanna Jarvis; Joanna Kaplanis; Joanna Poulton; John Burn; John Burton; John Dean; John Tolmie; Jonathan Berg; Jonathan Roberts; Jonathon Waters; Josh Randall; Judith Goodship; Julia Rankin; Julian Sampson; Julie Phipps; Julie Vogt; Kai-Ren Ong; Karen Marks; Kate Brunstrom; Kate Chandler; Kate Tatton-Brown; Kath Smith; Katherine I. Morley; Katherine Lachlan; I. Karen Temple; Katherine Martin; Katrina Prescott; Kay Metcalfe; Kirsten McKay; Kirsty Ambridge; Lara Cresswell; Laura E. Mason; Laura Yates; Leema Robert; Lily Islam; Linda Sneddon; Lisa Bradley; Liu He; Lorraine Gaunt; Louise Bourdon; Louise Brueton; Louise Nevitt; Louise Wilson; Lucy Harrison; Lucy Hilyard; Lucy Jenkins; Lucy Raymond; Lynn Greenhalgh; Marc Tischkowitz; Margo Whiteford; Margriet van Kogelenberg; Maria Bitner-Glindzicz; Mariella D’Alessandro; Martin Pollard; Matthew E. Hurles; Meena Balasubramanian; Melissa Lees; Melita Irving; Meriel McEntagart; Mervyn Humphreys; Michael Parker; Michael Wright; Michael Yau; Miranda Splitt; Miranda Squires; Mohnish Suri; Mohsan Alvi; Moira Blyth; Morag N. Collinson; Munaza Ahmed; Muriel Holder; Nadia Akawi; Natalie Canham; Neeti Ghali; Netravathi Krishnappa; Nicola Cooper; Nicola Foulds; Nicola Ragge; Nicola Williams; Nigel P. Carter; Nora Shannon; Norman Pratt; Oliver Quarrell; Paul Batstone; Paul Roberts; Peter Ellis; Peter Turnpenny; Philip Greene; Philip Jones; Pradeep Vasudevan; Rachel Harrison; Raheleh Rahbari; Ray Miller; Richard Fisher; Richard Gibbons; Richard Sandford; Richard Scott; Rob Andrews; Rohan Taylor; Roldan Singzon; Rose Hawkins; Rosemarie Davidson; Rosemary Kelsell; Rosie O’Shea; Ruby Banerjee; Ruth Armstrong; Ruth McGowan; Ruth Newbury-Ecob; Saba Sharif; Mark Tein; Saeed Al-Turki; Sahar Mansour; Sally Ann Lynch; Sally Davies; Sandra Kazembe; Sandra Louzada Gomes Pereira; Sara Widaa; Sarah Edkins; Sarah Everest; Sarah Hewitt; Sarah Smithson; Sarah Wallwark; Sarah Wilcox; Sarju Mehta; Sebastian S. Gerety; Shalaka Samant; Shane McKee; Shehla Mohammed; Shelagh Joss; Sian Ellard; Sian Morgan; Siddhartha Banka; Simon Brent; Simon Holden; Sofia Douzgou; Soo-Mi Park; Stephen Clayton; Stephen Hellens; Stewart Payne; Stuart Aitken; Stuart Ingram; Sue Price; Susan Clasper; Susan Gribble; Susan Holder; Susan McNerlan; Susan Tomkins; Susann Schweiger; Suzannah J. Bumpstead; Swati Naik; Tabib Dabir; Tanya Bayzetinova; Tara Montgomery; Tarjinder Singh; Tessa Homfray; Tina Fendick; Tomas W. Fitzgerald; Trevor Cole; Una Maye; Uruj Anjum; Usha Kini; V. K. Ajith Kumar; Victoria Harrison; Victoria Murday; Vijaya Parthiban; Vinod Varghese; Virginia Clowes; Vivienne McConnell; Vivienne Sutton; Volker Straub; Wayne Lam; Wendy D. Jones; Yanick Crow; Zara Skitt; Zosia Miedzybrodzka

Neurology
Sadleir, LG, Mountier, EI, Gill, D, Davis, S, Joshi, C, DeVile, C, Kurian, MA, Study, DDD, Mandelstam, S, Wirrell, E, Nickels, KC, Murali, HR, Carvill, G & Scheffer, IE 2017, ' Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. ', Neurology . https://doi.org/10.1212/wnl.0000000000004331

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Academic Journal

Víctor Faundes; William G. Newman; Laura Bernardini; Natalie Canham; Jill Clayton-Smith; Bruno Dallapiccola; Sally J. Davies; Michelle K. Demos; Amy Goldman; Harinder Gill; Rachel Horton; Bronwyn Kerr; Dhavendra Kumar; Anna Lehman; Shane McKee; Jenny Morton; Michael J. Parker; Julia Rankin; Lisa Robertson; I. Karen Temple; Shelin Adam; Christèle du Souich; Alison M. Elliott; Jill Mwenifumbo; Tanya N. Nelson; Clara van Karnebeek; Jan M. Friedman; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Siddharth Banka; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Helen Cox; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; V.K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Ruth Newbury-Ecob; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Sue Price; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Julie Vogt; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. . Hurles

Faundes, V, Newman, W G, Bernardini, L, Canham, N, Clayton-Smith, J, Dallapiccola, B, Davies, S J, Demos, M K, Goldman, A, Gill, H, Horton, R, Kerr, B, Kumar, D, Lehman, A, McKee, S, Morton, J, Parker, M J, Rankin, J, Robertson, L, Temple, I K & Banka, S 2018, 'Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.', American Journal of Human Genetics, vol. 102, no. 1, pp. 175-187. https://doi.org/10.1016/j.ajhg.2017.11.013

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Academic Journal

Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Siddharth Banka; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Natalie Canham; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Jill Clayton-Smith; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Helen Cox; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Harinder Gill; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Bronwyn Kerr; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; Dhavendra Kumar; V. K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Shane McKee; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Jenny Morton; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Michael J. Parker; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; I. Karen Temple; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Julie Vogt; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau

Nature Communications
Nat Commun
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
DDD Study 2019, 'Author Correction : CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language', Nature Communications, vol. 10, no. 1, pp. 883. https://doi.org/10.1038/s41467-019-08800-2, https://doi.org/10.1038/s41467-019-10161-9

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)

Academic Journal

Blok, Lot Snijders; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H; Nowak, Catherine B; Douglas, Jessica; Swoboda, Kathryn J; Steeves, Marcie A; Sahai, Inderneel; Stumpel, Connie TRM; Stegmann, Alexander PA; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T; Cohen, Ana SA; Agbahovbe, Ruky; Innes, A Micheil; Au, PY Billie; Rankin, Julia; Anderson, Ilse J; Skinner, Steven A; Louie, Raymond J; Warren, Hannah E; Afenjar, Alexandra; Keren, Boris; Nava, Caroline; Buratti, Julien; Isapof, Arnaud; Rodriguez, Diana; Lewandowski, Raymond; Propst, Jennifer; van Essen, Ton; Choi, Murim; Lee, Sangmoon; Chae, Jong H; Price, Susan; Schnur, Rhonda E; Douglas, Ganka; Wentzensen, Ingrid M; Zweier, Christiane; Reis, Andre; Bialer, Martin G; Moore, Christine; Koopmans, Marije; Brilstra, Eva H; Monroe, Glen R; van Gassen, Koen LI; van Binsbergen, Ellen; Newbury-Ecob, Ruth; Bownass, Lucy; Bader, Ingrid; Mayr, Johannes A; Wortmann, Saskia B; Jakielski, Kathy J; Strand, Edythe A; Kloth, Katja; Bierhals, Tatjana; Roberts, John D; Petrovich, Robert M; Machida, Shinichi; Kurumizaka, Hitoshi; Lelieveld, Stefan; Pfundt, Rolph; Jansen, Sandra; Deriziotis, Pelagia; Faivre, Laurence; Thevenon, Julien; Assoum, Mirna; Shriberg, Lawrence; Kleefstra, Tjitske; Brunner, Han G; Wade, Paul A; Fisher, Simon E; Campeau, Philippe M; McRae, Jeremy F; Clayton, Stephen; Fitzgerald, Tomas W; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D; King, Daniel; Krishnappa, Netravathi; Mason, Laura E; Singh, Tarjinder; Tivey, Adrian R; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D'Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Kumar, VK Ajith; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A; Magee, Alex; Maher, Eddy; Male, Alison; Mansour, Sahar; Marks, Karen; Martin, Katherine; Maye, Una; McCann, Emma; McConnell, Vivienne; McEntagart, Meriel; McGowan, Ruth; McKay, Kirsten; McKee, Shane; McMullan, Dominic J; McNerlan, Susan; McWilliam, Catherine; Mehta, Sarju; Metcalfe, Kay; Middleton, Anna; Miedzybrodzka, Zosia; Miles, Emma; Mohammed, Shehla; Montgomery, Tara; Moore, David; Morgan, Sian; Morton, Jenny; Mugalaasi, Hood; Murday, Victoria; Murphy, Helen; Naik, Swati; Nemeth, Andrea; Nevitt, Louise; Norman, Andrew; O'Shea, Rosie; Ogilvie, Caroline; Ong, Kai-Ren; Park, Soo-Mi; Parker, Michael J; Patel, Chirag; Paterson, Joan; Payne, Stewart; Perrett, Daniel; Phipps, Julie; Pilz, Daniela T; Pollard, Martin; Pottinger, Caroline; Poulton, Joanna; Pratt, Norman; Prescott, Katrina; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Raymond, Lucy; Rice, Debbie; Robert, Leema; Roberts, Eileen; Roberts, Jonathan; Roberts, Paul; Roberts, Gillian; Ross, Alison; Rosser, Elisabeth; Saggar, Anand; Samant, Shalaka; Sampson, Julian; Sandford, Richard; Sarkar, Ajoy; Schweiger, Susann; Scott, Richard; Scurr, Ingrid; Selby, Ann; Seller, Anneke; Sequeira, Cheryl; Shannon, Nora; Sharif, Saba; Shaw-Smith, Charles; Shearing, Emma; Shears, Debbie; Sheridan, Eamonn; Simonic, Ingrid; Singzon, Roldan; Skitt, Zara; Smith, Audrey; Smith, Kath; Smithson, Sarah; Sneddon, Linda; Splitt, Miranda; Squires, Miranda; Stewart, Fiona; Stewart, Helen; Straub, Volker; Suri, Mohnish; Sutton, Vivienne; Swaminathan, Ganesh Jawahar; Sweeney, Elizabeth; Tatton-Brown, Kate; Taylor, Cat; Taylor, Rohan; Tein, Mark; Temple, I Karen; Thomson, Jenny; Tischkowitz, Marc; Tomkins, Susan; Torokwa, Audrey; Treacy, Becky; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Vandersteen, Anthony; Varghese, Vinod; Vasudevan, Pradeep; Vijayarangakannan, Parthiban; Vogt, Julie; Wakeling, Emma; Wallwark, Sarah; Waters, Jonathon; Weber, Astrid; Wellesley, Diana; Whiteford, Margo; Widaa, Sara; Wilcox, Sarah; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellaker, Chris; Parker, Michael; Firth, Helen V; Wright, Caroline F; FitzPatrick, David R; Barrett, Jeffrey C; Hurles, Matthew E; Study, DDD

NATURE COMMUNICATIONS

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Academic Journal

Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; Jeremy F. McRae; Stephen Clayton; Tomas W. Fitzgerald; Joanna Kaplanis; Elena Prigmore; Diana Rajan; Alejandro Sifrim; Stuart Aitken; Nadia Akawi; Mohsan Alvi; Kirsty Ambridge; Daniel M. Barrett; Tanya Bayzetinova; Philip Jones; Wendy D. Jones; Daniel King; Netravathi Krishnappa; Laura E. Mason; Tarjinder Singh; Adrian R. Tivey; Munaza Ahmed; Uruj Anjum; Hayley Archer; Ruth Armstrong; Jana Awada; Meena Balasubramanian; Siddharth Banka; Diana Baralle; Angela Barnicoat; Paul Batstone; David Baty; Chris Bennett; Jonathan Berg; Birgitta Bernhard; A. Paul Bevan; Maria Bitner-Glindzicz; Edward Blair; Moira Blyth; David Bohanna; Louise Bourdon; David Bourn; Lisa Bradley; Angela Brady; Simon Brent; Carole Brewer; Kate Brunstrom; David J. Bunyan; John Burn; Natalie Canham; Bruce Castle; Kate Chandler; Elena Chatzimichali; Deirdre Cilliers; Angus Clarke; Susan Clasper; Jill Clayton-Smith; Virginia Clowes; Andrea Coates; Trevor Cole; Irina Colgiu; Amanda Collins; Morag N. Collinson; Fiona Connell; Nicola Cooper; Helen Cox; Lara Cresswell; Gareth Cross; Yanick Crow; Mariella D’Alessandro; Tabib Dabir; Rosemarie Davidson; Sally Davies; Dylan de Vries; John Dean; Charu Deshpande; Gemma Devlin; Abhijit Dixit; Angus Dobbie; Alan Donaldson; Dian Donnai; Deirdre Donnelly; Carina Donnelly; Angela Douglas; Sofia Douzgou; Alexis Duncan; Jacqueline Eason; Sian Ellard; Ian Ellis; Frances Elmslie; Karenza Evans; Sarah Everest; Tina Fendick; Richard Fisher; Frances Flinter; Nicola Foulds; Andrew Fry; Alan Fryer; Carol Gardiner; Lorraine Gaunt; Neeti Ghali; Richard Gibbons; Harinder Gill; Judith Goodship; David Goudie; Emma Gray; Andrew Green; Philip Greene; Lynn Greenhalgh; Susan Gribble; Rachel Harrison; Lucy Harrison; Victoria Harrison; Rose Hawkins; Liu He; Stephen Hellens; Alex Henderson; Sarah Hewitt; Lucy Hildyard; Emma Hobson; Simon Holden; Muriel Holder; Susan Holder; Georgina Hollingsworth; Tessa Homfray; Mervyn Humphreys; Jane Hurst; Ben Hutton; Stuart Ingram; Melita Irving; Lily Islam; Andrew Jackson; Joanna Jarvis; Lucy Jenkins; Diana Johnson; Elizabeth Jones; Dragana Josifova; Shelagh Joss; Beckie Kaemba; Sandra Kazembe; Rosemary Kelsell; Bronwyn Kerr; Helen Kingston; Usha Kini; Esther Kinning; Gail Kirby; Claire Kirk; Emma Kivuva; Alison Kraus; Dhavendra Kumar; V. K. Ajith Kumar; Katherine Lachlan; Wayne Lam; Anne Lampe; Caroline Langman; Melissa Lees; Derek Lim; Cheryl Longman; Gordon Lowther; Sally A. Lynch; Alex Magee; Eddy Maher; Alison Male; Sahar Mansour; Karen Marks; Katherine Martin; Una Maye; Emma McCann; Vivienne McConnell; Meriel McEntagart; Ruth McGowan; Kirsten McKay; Shane McKee; Dominic J. McMullan; Susan McNerlan; Catherine McWilliam; Sarju Mehta; Kay Metcalfe; Anna Middleton; Zosia Miedzybrodzka; Emma Miles; Shehla Mohammed; Tara Montgomery; David Moore; Sian Morgan; Jenny Morton; Hood Mugalaasi; Victoria Murday; Helen Murphy; Swati Naik; Andrea Nemeth; Louise Nevitt; Andrew Norman; Rosie O’Shea; Caroline Ogilvie; Kai-Ren Ong; Soo-Mi Park; Michael J. Parker; Chirag Patel; Joan Paterson; Stewart Payne; Daniel Perrett; Julie Phipps; Daniela T. Pilz; Martin Pollard; Caroline Pottinger; Joanna Poulton; Norman Pratt; Katrina Prescott; Abigail Pridham; Annie Procter; Hellen Purnell; Oliver Quarrell; Nicola Ragge; Raheleh Rahbari; Josh Randall; Lucy Raymond; Debbie Rice; Leema Robert; Eileen Roberts; Jonathan Roberts; Paul Roberts; Gillian Roberts; Alison Ross; Elisabeth Rosser; Anand Saggar; Shalaka Samant; Julian Sampson; Richard Sandford; Ajoy Sarkar; Susann Schweiger; Richard Scott; Ingrid Scurr; Ann Selby; Anneke Seller; Cheryl Sequeira; Nora Shannon; Saba Sharif; Charles Shaw-Smith; Emma Shearing; Debbie Shears; Eamonn Sheridan; Ingrid Simonic; Roldan Singzon; Zara Skitt; Audrey Smith; Kath Smith; Sarah Smithson; Linda Sneddon; Miranda Splitt; Miranda Squires; Fiona Stewart; Helen Stewart; Volker Straub; Mohnish Suri; Vivienne Sutton; Ganesh Jawahar Swaminathan; Elizabeth Sweeney; Kate Tatton-Brown; Cat Taylor; Rohan Taylor; Mark Tein; I. Karen Temple; Jenny Thomson; Marc Tischkowitz; Susan Tomkins; Audrey Torokwa; Becky Treacy; Claire Turner; Peter Turnpenny; Carolyn Tysoe; Anthony Vandersteen; Vinod Varghese; Pradeep Vasudevan; Parthiban Vijayarangakannan; Julie Vogt; Emma Wakeling; Sarah Wallwark; Jonathon Waters; Astrid Weber; Diana Wellesley; Margo Whiteford; Sara Widaa; Sarah Wilcox; Emily Wilkinson; Denise Williams; Nicola Williams; Louise Wilson; Geoff Woods; Christopher Wragg; Michael Wright; Laura Yates; Michael Yau; Chris Nellåker; Michael Parker; Helen V. Firth; Caroline F. Wright; David R. FitzPatrick; Jeffrey C. Barrett; Matthew E. Hurles; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau

Nature Communications
Nat Commun
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Nature Communications, 9
Snijders Blok, L, Rousseau, J, Twist, J, Ehresmann, S, Takaku, M, Venselaar, H, Rodan, L H, Nowak, C B, Douglas, J, Swoboda, K J, Steeves, M A, Sahai, I, Stumpel, C T R M, Stegmann, A P A, Wheeler, P, Willing, M, Fiala, E, Kochhar, A, Gibson, W T, Cohen, A S A, Agbahovbe, R, Innes, A M, Au, P Y B, Rankin, J, Anderson, I J, Skinner, S A, Louie, R J, Warren, H E, Afenjar, A, Keren, B, Nava, C, Buratti, J, Isapof, A, Rodriguez, D, Lewandowski, R, Propst, J, van Essen, T, Choi, M, Lee, S, Chae, J H, Price, S, Schnur, R E, Douglas, G, Wentzensen, I M, Zweier, C, Reis, A, Bialer, M G, Moore, C, Koopmans, M, Brilstra, E H, Monroe, G R, van Gassen, K L I, van Binsbergen, E, Newbury-Ecob, R, Bownass, L, Bader, I, Mayr, J A, Wortmann, S B, Jakielski, K J, Strand, E A, Kloth, K, Bierhals, T, Roberts, J D, Petrovich, R M, Machida, S, Kurumizaka, H, Lelieveld, S, Pfundt, R, Jansen, S, Deriziotis, P, Faive, L, Thevenon, J, Assoum, M, Shriberg, L, Kleefstra, T, Brunner, H G, Wade, P A, Fisher, S E & Campeau, P M 2018, 'CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language', Nature Communications, vol. 9, 4619. https://doi.org/10.1038/s41467-018-06014-6
Nat. Commun. 9:4619 (2018)
The DDD Study, Blok, L S, Rousseau, J, Twist, J, Ehresmann, S, Takaku, M, Venselaar, H, Rodan, LH, Nowak, CB, Douglas, J, Swoboda, KJ, Steeves, M A, Sahai, I, Stumpel, C T R M, Stegmann, A P A, Wheeler, P, Willing, M C, Fiala, E, Kochhar, A, Gibson, W T, Cohen, A S A, Agbahovbe, R, Innes, A M, Au, P Y B, Rankin, J, Anderson, I J, Skinner, S A, Louie, R J, Warren, H E, Afenjar, A, Keren, B, Nava, C, Buratti, J, Isapof, A, Rodriguez, D, Lewandowski, R, Propst, J, van Essen, T, Choi, M, Lee, S, Chae, J H, Price, S, Schnur, R E, Douglas, G, Wentzensen, I M, Zweier, C, Reis, A, Bialer, M G, Moore, C, Koopmans, M, Brilstra, E H, Monroe, G R, van Gassen, K L I, van Binsbergen, E, Newbury-Ecob, R, Bownass, L, Bader, I, Mayr, J A, Wortmann, S, Jakielski, K J, Strand, E A, Kloth, K, Bierhals, T, Roberts, J D, Petrovich, R M, Machida, S, Kurumizaka, H, Lelieveld, S, Pfundt, R, Jansen, S, Deriziotis, P, Faivre, L, Thevenon, J, Assoum, M, Shriberg, L, Kleefstra, T, Brunner, H G, Wade, P A, Fisher, S E, Campeau, P M & Banka, S 2018, 'CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language', Nature Communications, vol. 9, 4619, pp. 1-12. https://doi.org/10.1038/s41467-018-06014-6

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Prevalence and architecture of de novo mutations in developmental disorders

Academic Journal

McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, Paul A.; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Ajith Kumar, V. K.; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A.; Magee, Alex; Maher, Eddy; Male, Alison; Mansour, Sahar; Marks, Karen; Martin, Katherine; Maye, Una; McCann, Emma; McConnell, Vivienne; McEntagart, Meriel; McGowan, Ruth; McKay, Kirsten; McKee, Shane; McMullan, Dominic J.; McNerlan, Susan; McWilliam, Catherine; Mehta, Sarju; Metcalfe, Kay; Middleton, Anna; Miedzybrodzka, Zosia; Miles, Emma; Mohammed, Shehla; Montgomery, Tara; Moore, David; Morgan, Sian; Morton, Jenny; Mugalaasi, Hood; Murday, Victoria; Murphy, Helen; Naik, Swati; Nemeth, Andrea; Nevitt, Louise; Newbury-Ecob, Ruth; Norman, Andrew; O’Shea, Rosie; Ogilvie, Caroline; Ong, Kai-Ren; Park, Soo-Mi; Parker, Michael J.; Patel, Chirag; Paterson, Joan; Payne, Stewart; Perrett, Daniel; Phipps, Julie; Pilz, Daniela T.; Pollard, Martin; Pottinger, Caroline; Poulton, Joanna; Pratt, Norman; Prescott, Katrina; Price, Sue; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Rankin, Julia; Raymond, Lucy; Rice, Debbie; Robert, Leema; Roberts, Eileen; Roberts, Jonathan; Roberts, Paul; Roberts, Gillian; Ross, Alison; Rosser, Elisabeth; Saggar, Anand; Samant, Shalaka; Sampson, Julian; Sandford, Richard; Sarkar, Ajoy; Schweiger, Susann; Scott, Richard; Scurr, Ingrid; Selby, Ann; Seller, Anneke; Sequeira, Cheryl; Shannon, Nora; Sharif, Saba; Shaw-Smith, Charles; Shearing, Emma; Shears, Debbie; Sheridan, Eamonn; Simonic, Ingrid; Singzon, Roldan; Skitt, Zara; Smith, Audrey; Smith, Kath; Smithson, Sarah; Sneddon, Linda; Splitt, Miranda; Squires, Miranda; Stewart, Fiona; Stewart, Helen; Straub, Volker; Suri, Mohnish; Sutton, Vivienne; Swaminathan, Ganesh Jawahar; Sweeney, Elizabeth; Tatton-Brown, Kate; Taylor, Cat; Taylor, Rohan; Tein, Mark; Temple, Karen I.; Thomson, Jenny; Tischkowitz, Marc; Tomkins, Susan; Torokwa, Audrey; Treacy, Becky; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Vandersteen, Anthony; Varghese, Vinod; Vasudevan, Pradeep; Vijayarangakannan, Parthiban; Vogt, Julie; Wakeling, Emma; Wallwark, Sarah; Waters, Jonathon; Weber, Astrid; Wellesley, Diana; Whiteford, Margo; Widaa, Sara; Wilcox, Sarah; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellåker, Chris; Parker, Michael; Firth, Helen V.; Wright, Caroline F.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.

Nature. Feb 23, 2017 542(7642):433-438

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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Academic Journal

McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A. Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Kumar, V. K. Ajith; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A.; Magee, Alex; Maher, Eddy; Male, Alison; Mansour, Sahar; Marks, Karen; Martin, Katherine; Maye, Una; McCann, Emma; McConnell, Vivienne; McEntagart, Meriel; McGowan, Ruth; McKay, Kirsten; McKee, Shane; McMullan, Dominic J.; McNerlan, Susan; McWilliam, Catherine; Mehta, Sarju; Metcalfe, Kay; Middleton, Anna; Miedzybrodzka, Zosia; Miles, Emma; Mohammed, Shehla; Montgomery, Tara; Moore, David; Morgan, Sian; Morton, Jenny; Mugalaasi, Hood; Murday, Victoria; Murphy, Helen; Naik, Swati; Nemeth, Andrea; Nevitt, Louise; Newbury-Ecob, Ruth; Norman, Andrew; O’Shea, Rosie; Ogilvie, Caroline; Ong, Kai-Ren; Park, Soo-Mi; Parker, Michael J.; Patel, Chirag; Paterson, Joan; Payne, Stewart; Perrett, Daniel; Phipps, Julie; Pilz, Daniela T.; Pollard, Martin; Pottinger, Caroline; Poulton, Joanna; Pratt, Norman; Prescott, Katrina; Price, Sue; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Rankin, Julia; Raymond, Lucy; Rice, Debbie; Robert, Leema; Roberts, Eileen; Roberts, Jonathan; Roberts, Paul; Roberts, Gillian; Ross, Alison; Rosser, Elisabeth; Saggar, Anand; Samant, Shalaka; Sampson, Julian; Sandford, Richard; Sarkar, Ajoy; Schweiger, Susann; Scott, Richard; Scurr, Ingrid; Selby, Ann; Seller, Anneke; Sequeira, Cheryl; Shannon, Nora; Sharif, Saba; Shaw-Smith, Charles; Shearing, Emma; Shears, Debbie; Sheridan, Eamonn; Simonic, Ingrid; Singzon, Roldan; Skitt, Zara; Smith, Audrey; Smith, Kath; Smithson, Sarah; Sneddon, Linda; Splitt, Miranda; Squires, Miranda; Stewart, Fiona; Stewart, Helen; Straub, Volker; Suri, Mohnish; Sutton, Vivienne; Swaminathan, Ganesh Jawahar; Sweeney, Elizabeth; Tatton-Brown, Kate; Taylor, Cat; Taylor, Rohan; Tein, Mark; Temple, I. Karen; Thomson, Jenny; Tischkowitz, Marc; Tomkins, Susan; Torokwa, Audrey; Treacy, Becky; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Vandersteen, Anthony; Varghese, Vinod; Vasudevan, Pradeep; Vijayarangakannan, Parthiban; Vogt, Julie; Wakeling, Emma; Wallwark, Sarah; Waters, Jonathon; Weber, Astrid; Wellesley, Diana; Whiteford, Margo; Widaa, Sara; Wilcox, Sarah; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellåker, Chris; Parker, Michael; Firth, Helen V.; Wright, Caroline F.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.; Al Turki, Saeed; Anderson, Carl; Anney, Richard; Antony, Dinu; Artigas, Maria Soler; Ayub, Muhammad; Balasubramaniam, Senduran; Barroso, Inês; Beales, Phil; Bentham, Jamie; Bhattacharya, Shoumo; Birney, Ewan; Blackwood, Douglas; Bobrow, Martin; Bochukova, Elena; Bolton, Patrick; Bounds, Rebecca; Boustred, Chris; Breen, Gerome; Calissano, Mattia; Carss, Keren; Chatterjee, Krishna; Chen, Lu; Ciampi, Antonio; Cirak, Sebhattin; Clapham, Peter; Clement, Gail; Coates, Guy; Collier, David; Cosgrove, Catherine; Cox, Tony; Craddock, Nick; Crooks, Lucy; Curran, Sarah; Curtis, David; Daly, Allan; Day-Williams, Aaron; Day, Ian N.M.; Down, Thomas; Du, Yuanping; Dunham, Ian; Edkins, Sarah; Ellis, Peter; Evans, David; Faroogi, Sadaf; Fatemifar, Ghazaleh; Fitzpatrick, David R.; Flicek, Paul; Flyod, James; Foley, A. 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Campbell; Talks, Kate; Tan, Yvonne; Thachil, Jecko; Thaventhiran, James; Thomas, Ellen; Thomas, Moira; Thompson, Dorothy; Thrasher, Adrian; Titterton, Catherine; Toh, Cheng-Hock; Toshner, Mark; Treacy, Carmen; Trembath, Richard; Tuna, Salih; Turek, Wojciech; Turro, Ernest; Van Geet, Chris; Veltman, Marijke; von Ziegenweldt, Julie; Vonk Noordegraaf, Anton; Wanjiku, Ivy; Warner, Timothy Q.; Wassmer, Evangeline; Watkins, Hugh; Webster, Andrew; Welch, Steve; Westbury, Sarah; Wharton, John; Whitehorn, Deborah; Wilkins, Martin; Willcocks, Lisa; Williamson, Catherine; Woods, Geoffrey; Wort, John; Yeatman, Nigel; Yong, Patrick; Young, Tim; Yu, Ping; Gorman, Kathleen M. ; Meyer, Esther ; Spinelli, Egidio ; McTague, Amy ; Carss, Keren J. ; Bryant, Emily ; Reich, Adi ; Schneider, Amy L. ; Pressler, Ronit M. ; Simpson, Michael A. ; Debelle, Geoff D. ; Sieciechowicz, Diana ; Jan-Kamsteeg, Eric ; Paciorkowski, Alex R. ; King, Mary D. ; Cross, J. Helen ; Poduri, Annapurna ; Mefford, Heather C. ; Scheffer, Ingrid E. ; Haack, Tobias B. ; McCullagh, Gary ; Millichap, John J. ; Carvill, Gemma L. ; Maher, Eamonn R. ; Kurian, Manju A.

In The American Journal of Human Genetics 2 May 2019 104(5):948-956

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Academic Journal

McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A. Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Kumar, V. K. Ajith; Lachlan, Katherine; Lam, Wayne; Lampe, Anne; Langman, Caroline; Lees, Melissa; Lim, Derek; Longman, Cheryl; Lowther, Gordon; Lynch, Sally A.; Magee, Alex; Maher, Eddy; Male, Alison; Mansour, Sahar; Marks, Karen; Martin, Katherine; Maye, Una; McCann, Emma; McConnell, Vivienne; McEntagart, Meriel; McGowan, Ruth; McKay, Kirsten; McKee, Shane; McMullan, Dominic J.; McNerlan, Susan; McWilliam, Catherine; Mehta, Sarju; Metcalfe, Kay; Middleton, Anna; Miedzybrodzka, Zosia; Miles, Emma; Mohammed, Shehla; Montgomery, Tara; Moore, David; Morgan, Sian; Morton, Jenny; Mugalaasi, Hood; Murday, Victoria; Murphy, Helen; Naik, Swati; Nemeth, Andrea; Nevitt, Louise; Newbury-Ecob, Ruth; Norman, Andrew; O’Shea, Rosie; Ogilvie, Caroline; Ong, Kai-Ren; Park, Soo-Mi; Parker, Michael J.; Patel, Chirag; Paterson, Joan; Payne, Stewart; Perrett, Daniel; Phipps, Julie; Pilz, Daniela T.; Pollard, Martin; Pottinger, Caroline; Poulton, Joanna; Pratt, Norman; Prescott, Katrina; Price, Sue; Pridham, Abigail; Procter, Annie; Purnell, Hellen; Quarrell, Oliver; Ragge, Nicola; Rahbari, Raheleh; Randall, Josh; Rankin, Julia; Raymond, Lucy; Rice, Debbie; Robert, Leema; Roberts, Eileen; Roberts, Jonathan; Roberts, Paul; Roberts, Gillian; Ross, Alison; Rosser, Elisabeth; Saggar, Anand; Samant, Shalaka; Sampson, Julian; Sandford, Richard; Sarkar, Ajoy; Schweiger, Susann; Scott, Richard; Scurr, Ingrid; Selby, Ann; Seller, Anneke; Sequeira, Cheryl; Shannon, Nora; Sharif, Saba; Shaw-Smith, Charles; Shearing, Emma; Shears, Debbie; Sheridan, Eamonn; Simonic, Ingrid; Singzon, Roldan; Skitt, Zara; Smith, Audrey; Smith, Kath; Smithson, Sarah; Sneddon, Linda; Splitt, Miranda; Squires, Miranda; Stewart, Fiona; Stewart, Helen; Straub, Volker; Suri, Mohnish; Sutton, Vivienne; Swaminathan, Ganesh Jawahar; Sweeney, Elizabeth; Tatton-Brown, Kate; Taylor, Cat; Taylor, Rohan; Tein, Mark; Temple, I. Karen; Thomson, Jenny; Tischkowitz, Marc; Tomkins, Susan; Torokwa, Audrey; Treacy, Becky; Turner, Claire; Turnpenny, Peter; Tysoe, Carolyn; Vandersteen, Anthony; Varghese, Vinod; Vasudevan, Pradeep; Vijayarangakannan, Parthiban; Vogt, Julie; Wakeling, Emma; Wallwark, Sarah; Waters, Jonathon; Weber, Astrid; Wellesley, Diana; Whiteford, Margo; Widaa, Sara; Wilcox, Sarah; Wilkinson, Emily; Williams, Denise; Williams, Nicola; Wilson, Louise; Woods, Geoff; Wragg, Christopher; Wright, Michael; Yates, Laura; Yau, Michael; Nellåker, Chris; Parker, Michael; Firth, Helen V.; Wright, Caroline F.; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.; O’Donnell-Luria, Anne H. ; Pais, Lynn S. ; Faundes, Víctor ; Wood, Jordan C. ; Sveden, Abigail ; Luria, Victor ; Abou Jamra, Rami ; Accogli, Andrea ; Amburgey, Kimberly ; Anderlid, Britt Marie ; Azzarello-Burri, Silvia ; Basinger, Alice A. ; Bianchini, Claudia ; Bird, Lynne M. ; Buchert, Rebecca ; Carre, Wilfrid ; Ceulemans, Sophia ; Charles, Perrine ; Culliton, Lisa ; Currò, Aurora ; Demurger, Florence ; Dowling, James J. ; Duban-Bedu, Benedicte ; Dubourg, Christèle ; Eiset, Saga Elise ; Escobar, Luis F. ; Ferrarini, Alessandra ; Haack, Tobias B. ; Hashim, Mona ; Heide, Solveig ; Helbig, Katherine L. ; Helbig, Ingo ; Heredia, Raul ; Héron, Delphine ; Isidor, Bertrand ; Jonasson, Amy R. ; Joset, Pascal ; Keren, Boris ; Kok, Fernando ; Kroes, Hester Y. ; Lavillaureix, Alinoë ; Lu, Xin ; Maas, Saskia M. ; Maegawa, Gustavo H.B. ; Marcelis, Carlo L.M. ; Mark, Paul R. ; Masruha, Marcelo R. ; McLaughlin, Heather M. ; McWalter, Kirsty ; Melchinger, Esther U. ; Mercimek-Andrews, Saadet ; Nava, Caroline ; Pendziwiat, Manuela ; Person, Richard ; Ramelli, Gian Paolo ; Ramos, Luiza L.P. ; Rauch, Anita ; Reavey, Caitlin ; Renieri, Alessandra ; Rieß, Angelika ; Sanchez-Valle, Amarilis ; Sattar, Shifteh ; Saunders, Carol ; Schwarz, Niklas ; Smol, Thomas ; Srour, Myriam ; Steindl, Katharina ; Syrbe, Steffen ; Taylor, Jenny C. ; Telegrafi, Aida ; Thiffault, Isabelle ; Trauner, Doris A. ; van der Linden, Helio, Jr. ; van Koningsbruggen, Silvana ; Villard, Laurent ; Vogel, Ida ; Weber, Yvonne G. ; Wentzensen, Ingrid M. ; Widjaja, Elysa ; Zak, Jaroslav ; Baxter, Samantha ; Rodan, Lance H.

In The American Journal of Human Genetics 6 June 2019 104(6):1210-1222

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Rosie the Dragon and Charlie Say Good Night.

Review

Kenney, Sophie

School Library Journal. Jul2020, Vol. 66 Issue 7, p51-51. 3/8p. 1 Color Photograph.

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