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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
- Vaz, Frédéric M
- McDermott, John H
- Alders, Mariëlle
- Wortmann, Saskia B
- Kölker, Stefan
- Pras-Raves, Mia L
- Vervaart, Martin A T
- van Lenthe, Henk
- Luyf, Angela C M
- Elfrink, Hyung L
- Metcalfe, Kay
- Cuvertino, Sara
- Clayton, Peter E
- Yarwood, Rebecca
- Lowe, Martin P
- Lovell, Simon
- Rogers, Richard C
- van Kampen, Antoine H C
- Ruiter, Jos P N
- Wanders, Ronald J A
- Ferdinandusse, Sacha
- van Weeghel, Michel
- Engelen, Marc
- Banka, Siddharth
2019
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Journal of medical genetics, 2019-02, Vol.56 (2), p.89-95
2019
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Arthritis & rheumatology (Hoboken, N.J.), 2020-01, Vol.72 (1), p.114-124
2020
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American journal of human genetics, 2020-02, Vol.106 (2), p.234-245
- Beck, David B.
- Petracovici, Ana
- He, Chongsheng
- Moore, Hannah W.
- Louie, Raymond J.
- Ansar, Muhammad
- Douzgou, Sofia
- Sithambaram, Sivagamy
- Cottrell, Trudie
- Santos-Cortez, Regie Lyn P.
- Prijoles, Eloise J.
- Bend, Renee
- Keren, Boris
- Mignot, Cyril
- Nougues, Marie-Christine
- Õunap, Katrin
- Reimand, Tiia
- Pajusalu, Sander
- Zahid, Muhammad
- Saqib, Muhammad Arif Nadeem
- Buratti, Julien
- Seaby, Eleanor G.
- McWalter, Kirsty
- Telegrafi, Aida
- Baldridge, Dustin
- Shinawi, Marwan
- Leal, Suzanne M.
- Schaefer, G. Bradley
- Stevenson, Roger E.
- Banka, Siddharth
- Bonasio, Roberto
- Fahrner, Jill A.
2020
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Annals of neurology, 2017-09, Vol.82 (3), p.317-330
- Ortigoza‐Escobar, Juan Darío
- Alfadhel, Majid
- Molero‐Luis, Marta
- Darin, Niklas
- Spiegel, Ronen
- de Coo, Irenaeus F.
- Gerards, Mike
- Taylor, Robert W.
- Artuch, Rafael
- Nashabat, Marwan
- Rodríguez‐Pombo, Pilar
- Tabarki, Brahim
- Pérez‐Dueñas, Belén
- Distelmaier, Felix
- Hahn, Andreas
- Morava, Eva
- Banka, Siddharth
- Debs, Rabab
- Fraser, Jamie L.
- Isohanni, Pirjo
- Lähdesmäki, Tuire
- Livingston, John
- Nadjar, Yann
- Schuler, Elisabeth
- Uusimaa, Johanna
- Vanderver, Adeline
- Friedman, Jennifer R.
- Zimbric, Michael R.
- McFarland, Robert
- Santra, Saikat
- Wassmer, Evangeline
- Martí‐Sanchez, Laura
- Darling, Alejandra
2017
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American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2972-2980
- Tatton-Brown, Katrina
- Murray, Anne
- Hanks, Sandra
- Douglas, Jenny
- Armstrong, Ruth
- Banka, Siddharth
- Bird, Lynne M.
- Clericuzio, Carol L.
- Cormier-Daire, Valerie
- Cushing, Tom
- Flinter, Frances
- Jacquemont, Marie-Line
- Joss, Shelagh
- Kinning, Esther
- Lynch, Sally Ann
- Magee, Alex
- McConnell, Vivienne
- Medeira, Ana
- Ozono, Keiichi
- Patton, Michael
- Rankin, Julia
- Shears, Debbie
- Simon, Marleen
- Splitt, Miranda
- Strenger, Volker
- Stuurman, Kyra
- Taylor, Clare
- Titheradge, Hannah
- Van Maldergem, Lionel
- Temple, I. Karen
- Cole, Trevor
- Seal, Sheila
- Rahman, Nazneen
2013
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Arteriosclerosis, thrombosis, and vascular biology, 2005-09, Vol.25 (9), p.1910-1916
2005
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Oncotarget, 2011-12, Vol.2 (12), p.1127-1133
- Tatton-Brown, Katrina
- Hanks, Sandra
- Ruark, Elise
- Zachariou, Anna
- Duarte, Silvana Del Vecchio
- Ramsay, Emma
- Snape, Katie
- Murray, Anne
- Perdeaux, Elizabeth R
- Seal, Sheila
- Loveday, Chey
- Banka, Siddharth
- Clericuzio, Carol
- Flinter, Frances
- Magee, Alex
- McConnell, Vivienne
- Patton, Michael
- Raith, Wolfgang
- Rankin, Julia
- Splitt, Miranda
- Strenger, Volker
- Taylor, Clare
- Wheeler, Patricia
- Temple, Karen I
- Cole, Trevor
- Douglas, Jenny
- Rahman, Nazneen
2011
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Immunity (Cambridge, Mass.), 2015-06, Vol.42 (6), p.1185-1196
- Oftedal, Bergithe E.
- Hellesen, Alexander
- Erichsen, Martina M.
- Bratland, Eirik
- Vardi, Ayelet
- Perheentupa, Jaakko
- Kemp, E. Helen
- Fiskerstrand, Torunn
- Viken, Marte K.
- Weetman, Anthony P.
- Fleishman, Sarel J.
- Banka, Siddharth
- Newman, William G.
- Sewell, W.A.C.
- Sozaeva, Leila S.
- Zayats, Tetyana
- Haugarvoll, Kristoffer
- Orlova, Elizaveta M.
- Haavik, Jan
- Johansson, Stefan
- Knappskog, Per M.
- Løvås, Kristian
- Wolff, Anette S.B.
- Abramson, Jakub
- Husebye, Eystein S.
2015
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Journal of the American College of Cardiology, 2007-03, Vol.49 (11), p.1230-1250
- Mosca, Lori, MD, MPH, PhD
- Banka, Carole L., PhD
- Benjamin, Emelia J., MD
- Berra, Kathy, MSN, NP
- Bushnell, Cheryl, MD
- Dolor, Rowena J., MD, MHS
- Ganiats, Theodore G., MD
- Gomes, Antoinette S., MD
- Gornik, Heather L., MD, MHS
- Gracia, Clarissa, MD, MSCE
- Gulati, Martha, MD, MS
- Haan, Constance K., MD
- Judelson, Debra R., MD
- Keenan, Nora, PhD
- Kelepouris, Ellie, MD
- Michos, Erin D., MD
- Newby, L. Kristin, MD, MHS
- Oparil, Suzanne, MD
- Ouyang, Pamela, MD
- Oz, Mehmet C., MD
- Petitti, Diana, MD, MPH
- Pinn, Vivian W., MD
- Redberg, Rita F., MD, MSc
- Scott, Rosalyn, MD
- Sherif, Katherine, MD
- Smith, Sidney C., MD
- Sopko, George, MD, MPH
- Steinhorn, Robin H., MD
- Stone, Neil J., MD
- Taubert, Kathryn A., PhD
- Todd, Barbara A., MSN, CRNP
- Urbina, Elaine, MD
- Wenger, Nanette K., MD
2007
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Orthopedics (Thorofare, N.J.), 2014-04, Vol.37 (4), p.e395
2014
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American journal of human genetics, 2011-02, Vol.88 (2), p.216-225
- Banka, Siddharth
- Blom, Henk J.
- Walter, John
- Aziz, Majid
- Urquhart, Jill
- Clouthier, Christopher M.
- Rice, Gillian I.
- de Brouwer, Arjan P.M.
- Hilton, Emma
- Vassallo, Grace
- Will, Andrew
- Smith, Desirée E.C.
- Smulders, Yvo M.
- Wevers, Ron A.
- Steinfeld, Robert
- Heales, Simon
- Crow, Yanick J.
- Pelletier, Joelle N.
- Jones, Simon
- Newman, William G.
2011
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American journal of human genetics, 2016-02, Vol.98 (2), p.363-372
- Kasher, Paul R.
- Schertz, Katherine E.
- Thomas, Megan
- Jackson, Adam
- Annunziata, Silvia
- Ballesta-Martinez, María J.
- Campeau, Philippe M.
- Clayton, Peter E.
- Eaton, Jennifer L.
- Granata, Tiziana
- Guillén-Navarro, Encarna
- Hernando, Cristina
- Laverriere, Caroline E.
- Liedén, Agne
- Villa-Marcos, Olaya
- McEntagart, Meriel
- Nordgren, Ann
- Pantaleoni, Chiara
- Pebrel-Richard, Céline
- Sarret, Catherine
- Sciacca, Francesca L.
- Wright, Ronnie
- Kerr, Bronwyn
- Glasgow, Eric
- Banka, Siddharth
2016
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The Journal of arthroplasty, 2014, Vol.29 (1), p.37-39
2014
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The American journal of surgical pathology, 2011-07, Vol.35 (7), p.937-948
- Magnusson, Kristina
- de Wit, Meike
- Brennan, Donal J
- Johnson, Louis B
- McGee, Sharon F
- Lundberg, Emma
- Naicker, Kirsha
- Klinger, Rut
- Kampf, Caroline
- Asplund, Anna
- Wester, Kenneth
- Gry, Marcus
- Bjartell, Anders
- Gallagher, William M
- Rexhepaj, Elton
- Kilpinen, Sami
- Kallioniemi, Olli-Pekka
- Belt, Eric
- Goos, Jeroen
- Meijer, Gerrit
- Birgisson, Helgi
- Glimelius, Bengt
- Borrebaeck, Carl A K
- Navani, Sanjay
- Uhlén, Mathias
- O'Connor, Darran P
- Jirström, Karin
- Pontén, Fredrik
2011
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Clinical orthopaedics and related research, 2012-08, Vol.470 (8), p.2280-2287
2012
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The Annals of thoracic surgery, 2013-09, Vol.96 (3), p.904-909
2013
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Genetics in medicine, 2021-04, Vol.23 (4), p.645-652
- Polla, D.L.
- Bhoj, E.J.
- Verheij, J.B.G.M.
- Wassink-Ruiter, J.S. Klein
- Reis, A.
- Deshpande, C.
- Gregor, A.
- Hill-Karfe, K.
- Silfhout, A.T. Vulto-van
- Pfundt, R.
- Bongers, E.M.H.F.
- Hakonarson, H.
- Berland, S.
- Gradek, G.
- Banka, S.
- Chandler, K.
- Gompertz, L.
- Huffels, S.C.
- Stumpel, C.T.R.M.
- Wennekes, R.
- Stegmann, A.P.A.
- Reardon, W.
- Leenders, E.K.S.M.
- de Vries, B.B.A.
- Li, D.
- Zackai, E.
- Ragge, N.
- Lynch, S.A.
- Cuddapah, S.
- van Bokhoven, H.
- Zweier, C.
- de Brouwer, A.P.M.
2021
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Clinical otolaryngology, 2021-11, Vol.46 (6), p.1257-1262
- Molina‐Ramírez, Leslie P.
- Burkitt‐Wright, Emma MM
- Saeed, Haroon
- McDermott, John H.
- Kyle, Claire
- Wright, Ronnie
- Campbell, Christopher
- Bhaskar, Sanjeev S.
- Taylor, Algy
- Dutton, Laura
- Forde, Claire
- Metcalfe, Kay
- Smith, Audrey
- Clayton‐Smith, Jill
- Douzgou, Sofia
- Chandler, Kate
- Briggs, Tracy A.
- Banka, Siddharth
- Newman, William G.
- Gokhale, David
- Bruce, Iain A.
- Black, Graeme C.
2021
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European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.381-388
- BANKA, Siddharth
- VEERAMACHANENI, Ratna
- METCALFE, Kay
- CHANDLER, Kate
- MAGEE, Alex
- STEWART, Fiona
- MCCONNELL, Vivienne Pm
- DONNELLY, Deirdre E
- BERLAND, Siren
- HOUGE, Gunnar
- MORTON, Jenny E
- OLEY, Christine
- REARDON, William
- REVENCU, Nicole
- PARK, Soo-Mi
- DAVIES, Sally J
- FRY, Andrew E
- ANN LYNCH, Sally
- GILL, Harinder
- SCHWEIGER, Susann
- LAM, Wayne Wk
- TOLMIE, John
- MOHAMMED, Shehla N
- HOWARD, Emma
- HOBSON, Emma
- SMITH, Audrey
- BLYTH, Moira
- BENNETT, Christopher
- VASUDEVAN, Pradeep C
- GARCIA-MINAUR, Sixto
- HENDERSON, Alex
- GOODSHIP, Judith
- WRIGHT, Michael J
- FISHER, Richard
- BUNSTONE, Sancha
- GIBBONS, Richard
- PRICE, Susan M
- DE SILVA, Deepthi C
- KAREN TEMPLE, I
- COLLINS, Amanda L
- LACHLAN, Katherine
- ELMSLIE, Frances
- MCENTAGART, Meriel
- CASTLE, Bruce
- CLAYTON-SMITH, Jill
- RAGGE, Nicola
- BLACK, Graeme C
- DONNAI, Dian
- PARKER, Michael J
- CROW, Yanick J
- KERR, Bronwyn
- KINGSTON, Helen
2012
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Cancer research (Chicago, Ill.), 2006-04, Vol.66 (7), p.3667-3672
2006
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Indian journal of gastroenterology, 2008-01, Vol.27 (1), p.22-28
- Ghoshal, Uday C
- Abraham, Philip
- Bhatt, Chetan
- Choudhuri, Gourdas
- Bhatia, Shobna J
- Shenoy, K T
- Banka, N H
- Bose, Kalyan
- Bohidar, N P
- Chakravartty, Karmabir
- Shekhar, N Chandra
- Desai, Nutan
- Dutta, Usha
- Das, Goutam
- Dutta, Sangeet
- Dixit, V K
- Goswami, B D
- Jain, R K
- Jain, Sunil
- Jayanthi, V
- Kochhar, Rakesh
- Kumar, Ajay
- Makharia, Govind
- Mukewar, Shrikant V
- Mohan Prasad, V G
- Mohanty, Alok
- Mohan, A T
- Sathyaprakash, B S
- Prabhakar, B
- Philip, Mathew
- Veerraju, E Peda
- Ray, Gautam
- Rai, Ramesh Roop
- Seth, A K
- Sachdeva, Atul
- Singh, Shivaram Prasad
- Sood, Ajit
- Thomas, Varghese
- Tiwari, Shridhar
- Tandan, Manu
- Upadhyay, R
- Vij, J C
2008
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European heart journal, 2003-09, Vol.24 (17), p.1554-1559
2003
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Diseases of the colon & rectum, 2005-08, Vol.48 (8), p.1573-1580
2005
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Rheumatology international, 2022-02, Vol.42 (2), p.261-271
- Krzemień, Paweł
- Kasperczyk, Sławomir
- Banach, Maciej
- Kasperczyk, Aleksandra
- Dobrakowski, Michał
- Tomasik, Tomasz
- Windak, Adam
- Mastej, Mirosław
- Catapano, Alberico
- Ray, Kausik K.
- Mikhailidis, Dimitri P.
- Toth, Peter P.
- Howard, George
- Lip, Gregory Y. H.
- Tomaszewski, Maciej
- Charchar, Fadi J.
- Sattar, Naveed
- Williams, Bryan
- MacDonald, Thomas M.
- Penson, Peter E.
- Jóźwiak, Jacek J.
2022
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