Louise C. Wilson - Publications, H-index & Citations

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Louise C. Wilson

Great Ormond Street Hospital

49H-index

125Paper Count

7.9KCitation Count

Published Papers 49

Publication Date

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy

Brain

IF11.7

2025-06-11

PREAI

Maureen Jacob; Heike Kölbel; Philip Harrer; Robert Kopajtich; Pinki Munot; Melanie T Achleitner; Susann Badmann; Melanie Brugger; Theresa Brunet; Gisèle Bonne; Marta Codina; Laura Ebner; Peyman Eshraghi; Katharina Eyring; Ahmad Shah Farhat; René G Feichtinger; Elisabeth Graf; Anna Marcé-Grau; Andreas Hahn; Henry Houlden; Ehsan Ghayoor Karimiani; Véronique Manel; Katharina Mayerhanser; Juliette Nectoux; Isabelle Nelson; Rahul Phadke; Holger Prokisch; Saeid Sadeghian; Alice Saparov; Anne Schänzer; Ulrike Schara-Schmidt; Julia Schmidt; Rahel Schuler; Caroline Sewry; Gholamreza Shariati; Silke Slanz; Dmitrii Smirnov; Rivka Sukenik-Halevy; Homa Tajsharghi; Mehran Beiraghi Toosi; Laura Trujillano; Joachim Weis; Louise C Wilson; Rabah Ben Yaou; Mina Zamani; Michael Zech; Jana Zschüntzsch; Uwe Kornak; David Goméz-Andrés; Reza Maroofian; Juliane Winkelmann; Andreas Roos; Felix Distelmaier; Johannes A Mayr; Matias Wagner

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Whole Genome Sequencing of Mutation-Negative Individuals With Cornelia de Lange Syndrome

HUMAN MUTATION

IF3.7

2025-01-30

OAAI

Ansari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L.; D'Souza, Elston N.; Barnett, Christopher; Wilkie, Andrew O. M.; Barnicoat, Angela; Patel, Chirag V.; Sukarova-Angelovska, Elena; Girisha, Katta M.; Firth, Helen V.; Prescott, Katrina; Wilson, Louise C.; Mcentagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T.; Lam, Wayne K.; Sisodiya, Sanjay M.; Green, Andrew J.; Poke, Gemma; Whiffin, Nicola; Fitzpatrick, David R.; Meynert, Alison

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Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance

GENETICS IN MEDICINE

IF6.2

2023-09-01

OAAI

Tooze, Rebecca S.; Miller, Kerry A.; Swagemakers, Sigrid M. A.; Calpena, Eduardo; McGowan, Simon J.; Boute, Odile; Collet, Corinne; Johnson, David; Laffargue, Fanny; de Leeuw, Nicole; Morton, Jenny V.; Noons, Peter; Ockeloen, Charlotte W.; Phipps, Julie M.; Tan, Tiong Yang; Timberlake, Andrew T.; Vanlerberghe, Clemence; Wall, Steven A.; Weber, Astrid; Wilson, Louise C.; Zackai, Elaine H.; Mathijssen, Irene M. J.; Twigg, Stephen R. F.; Wilkie, Andrew O. M.

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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

GENETICS IN MEDICINE

IF6.2

2021-12-01

OAAI

Hyder, Zerin; Calpena, Eduardo; Pei, Yang; Tooze, Rebecca S.; Brittain, Helen; Twigg, Stephen R. F.; Cilliers, Deirdre; Morton, Jenny E., V; McCann, Emma; Weber, Astrid; Wilson, Louise C.; Douglas, Andrew G. L.; McGowan, Ruth; Need, Anna; Bond, Andrew; Tavares, Ana Lisa Taylor; Thomas, Ellen R. A.; Hill, Susan L.; Deans, Zandra C.; Boardman-Pretty, Freya; Caulfield, Mark; Scott, Richard H.; Wilkie, Andrew O. M.

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Obesity-Associated GNAS Mutations and the Melanocortin Pathway

NEW ENGLAND JOURNAL OF MEDICINE

IF78.5

2021-10-21

OAAI

de Oliveira, Edson Mendes; Keogh, Julia M.; Talbot, Fleur; Henning, Elana; Ahmed, Rachel; Perdikari, Aliki; Bounds, Rebecca; Wasiluk, Natalia; Ayinampudi, Vikram; Barroso, Ines; Mokrosinski, Jacek; Jyothish, Deepthi; Lim, Sharon; Gupta, Sanjay; Kershaw, Melanie; Matei, Cristina; Partha, Praveen; Randell, Tabitha; McAulay, Antoinette; Wilson, Louise C.; Cheetham, Tim; Crowne, Elizabeth C.; Clayton, Peter; Farooqi, I. Sadaf

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Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2021-07-20

OAAI

Hay, Eleanor; Wilson, Louise C.; Hoskins, Bethan; Samuels, Martin; Munot, Pinki; Rahman, Shamima

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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation (vol 33, pg 751, 2020)

GENETICS IN MEDICINE

IF6.2

2020-09-01

OAAI

Calpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M. A.; Koelling, Nils; McGowan, Simon J.; Phipps, Julie M.; Balasubramanian, Meena; Cunningham, Michael L.; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E. V.; Shears, Deborah; Weber, Astrid; Wilson, Louise C.; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Boardman-Pretty, Freya; Boyadjiev, Simeon A.; Wilkie, Andrew O. M.

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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

GENETICS IN MEDICINE

IF6.2

2020-09-01

OAAI

Calpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M. A.; Koelling, Nils; McGowan, Simon J.; Phipps, Julie M.; Balasubramanian, Meena; Cunningham, Michael L.; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E., V; Shears, Deborah; Weber, Astrid; Wilson, Louise C.; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Boyadjiev, Simeon A.; Wilkie, Andrew O. M.

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Juvenile Paget's disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype

BONE

IF3.6

2020-01-01

OAAI

Naot, Dorit; Wilson, Louise C.; Allgrove, Jeremy; Adviento, Eleanor; Piec, Isabelle; Musson, David S.; Cundy, Tim; Calder, Alistair D.

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019)

GENETICS IN MEDICINE

IF6.2

2019-09-01

OAAI

van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

GENETICS IN MEDICINE

IF6.2

2019-06-01

OAAI

van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.

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A New Multisystem Disorder Caused by the Gαs Mutation p.F376V

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

IF5.1

2018-10-11

OAAI

Biebermann, Heike; Kleinau, Gunnar; Schnabel, Dirk; Bockenhauer, Detlef; Wilson, Louise C.; Tully, Ian; Kiff, Sarah; Scheerer, Patrick; Reyes, Monica; Paisdzior, Sarah; Gregory, John W.; Allgrove, Jeremy; Krude, Heiko; Mannstadt, Michael; Gardella, Thomas J.; Dattani, Mehul; Juppner, Harald; Grueters, Annette

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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management (vol 137, pg 111, 2018)

HUMAN GENETICS

IF3.6

2018-02-12

OAAI

Tranebjaerg, Lisbeth; Strenzke, Nicola; Lindholm, Sture; Rendtorff, Nanna D.; Poulsen, Hanne; Khandelia, Himanshu; Kopec, Wojciech; Lyngbye, Troels J. Brunnich; Hamel, Christian; Delettre, Cecile; Bocquet, Beatrice; Bille, Michael; Owen, Hanne H.; Bek, Toke; Jensen, Hanne; Ostergaard, Karen; Moller, Claes; Luxon, Linda; Carr, Lucinda; Wilson, Louise; Rajput, Kaukab; Sirimanna, Tony; Harrop-Griffiths, Katherine; Rahman, Shamima; Vona, Barbara; Doll, Julia; Haaf, Thomas; Bartsch, Oliver; Rosewich, Hendrik; Moser, Tobias; Bitner-Glindzicz, Maria

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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

HUMAN GENETICS

IF3.6

2018-01-05

OAAI

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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2017-11-27

OAAI

Moortgat, Stephanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, Francois-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjorn I.; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cecile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; van Loon, Barbara; Verellen-Dumoulin, Christine; Verloes, Alain; von der Lippe, Charlotte; Wakeling, Emma; Wilkie, Andrew O. M.; Wilson, Louise; Yuen, Amy; Low, Karen J.; Newbury-Ecob, Ruth A.

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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-12-01

112

OAAI

Darin, Niklas; Reid, Emma; Prunetti, Laurence; Samuelsson, Lena; Husain, Ralf A.; Wilson, Matthew; El Yacoubi, Basma; Footitt, Emma; Chong, W. K.; Wilson, Louise C.; Prunty, Helen; Pope, Simon; Heales, Simon; Lascelles, Karine; Champion, Mike; Wassmer, Evangeline; Veggiotti, Pierangelo; de Crecy-Lagard, Valerie; Mills, Philippa B.; Clayton, Peter T.

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Diagnostic value of exome and whole genome sequencing in craniosynostosis

JOURNAL OF MEDICAL GENETICS

IF3.7

2016-11-24

101

OAAI

Miller, Kerry A.; Twigg, Stephen R. F.; McGowan, Simon J.; Phipps, Julie M.; Fenwick, Aimee L.; Johnson, David; Wall, Steven A.; Noons, Peter; Rees, Katie E. M.; Tidey, Elizabeth A.; Craft, Judith; Taylor, John; Taylor, Jenny C.; Goos, Jacqueline A. C.; Swagemakers, Sigrid M. A.; Mathijssen, Irene M. J.; van der Spek, Peter J.; Lord, Helen; Lester, Tracy; Abid, Noina; Cilliers, Deirdre; Hurst, Jane A.; Morton, Jenny E. V.; Sweeney, Elizabeth; Weber, Astrid; Wilson, Louise C.; Wilkie, Andrew O. M.

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Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-08-01

OAAI

Wade, Emma M.; Daniel, Philip B.; Jenkins, Zandra A.; McInerney-Leo, Aideen; Leo, Paul; Morgan, Tim; Addor, Marie Claude; Ades, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; Duba, Hans-Christoph; Fletcher, Elaine; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Superti-Furga, Andrea; Veenstra-Knol, Irma; Wieczorek, Dagmar; Wilson, Louise C.; Hennekam, Raoul C. M.; Sutherland-Smith, Andrew J.; Strom, Tim M.; Wilkie, Andrew O. M.; Brown, Matthew A.; Duncan, Emma L.; Markie, David M.; Robertson, Stephen P.

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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-07-01

103

OAAI

Fenwick, Aimee L.; Kliszczak, Maciej; Cooper, Fay; Murray, Jennie; Sanchez-Pulido, Luis; Twigg, Stephen R. F.; Goriely, Anne; McGowan, Simon J.; Miller, Kerry A.; Taylor, Indira B.; Logan, Clare; Bozdogan, Sevcan; Danda, Sumita; Dixon, Joanne; Elsayed, Solaf M.; Elsobky, Ezzat; Gardham, Alice; Hoffer, Mariette J. V.; Koopmans, Marije; McDonald-McGinn, Donna M.; Santen, Gijs W. E.; Savarirayan, Ravi; de Silva, Deepthi; Vanakker, Olivier; Wall, Steven A.; Wilson, Louise C.; Yuregir, Ozge Ozalp; Zackai, Elaine H.; Ponting, Chris P.; Jackson, Andrew P.; Wilkie, Andrew O. M.; Niedzwiedz, Wojciech; Bicknell, Louise S.

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Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome

BRITISH JOURNAL OF DERMATOLOGY

IF9.6

2016-06-23

OAAI

Polubothu, S.; Al-Olabi, L.; Wilson, L.; Chong, W. K.; Kinsler, V. A.

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Research Directions