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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

Hall, Hildegard Nikki ; Bengani, Hemant ; Hufnagel, Robert B ; Damante, Giuseppe ; Ansari, Morad ; Marsh, Joseph A ; Grimes, Graeme R ; Kriegsheim, Alex von ; Moore, David ; McKie, Lisa ; Rahmat, Jamalia ; Mio, Catia ; Blyth, Moira ; Keng, Wee Teik ; Islam, Lily ; McEntargart, Meriel ; Mannens, Marcel M ; Heyningen, Veronica Van ; Rainger, Joe ; Brooks, Brian P ; FitzPatrick, David R Swaroop, Anand

PloS one, 2022-11, Vol.17 (11), p.e0268149-e0268149 [Periódico revisado por pares]

United States: Public Library of Science

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2
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
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Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

Breckpot, Jeroen ; Anderlid, Britt-Marie ; Alanay, Yasemin ; Blyth, Moira ; Brahimi, Afane ; Duban-Bedu, Bénédicte ; Gozé, Odile ; Firth, Helen ; Yakicier, Mustafa Cengiz ; Hens, Greet ; Rayyan, Maissa ; Legius, Eric ; Vermeesch, Joris Robert ; Devriendt, Koen

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.51-58 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

Myers, Lynnea ; Blyth, Moira ; Moradkhani, Kamran ; Hranilović, Dubravka ; Polesie, Sam ; Isaksson, Johan ; Nordgren, Ann ; Bucan, Maja ; Vincent, Marie ; Bölte, Sven ; Anderlid, Britt‐Marie ; Tammimies, Kristiina

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1013-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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4
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Myers, Candace T. ; Cossette, Patrick ; Lemay, Philippe ; Spiegelman, Dan ; Laporte, Alexandre Dionne ; Nassif, Christina ; Diallo, Ousmane ; Monlong, Jean ; Cadieux-Dion, Maxime ; Dobrzeniecka, Sylvia ; Meloche, Caroline ; Retterer, Kyle ; Cho, Megan T. ; Rosenfeld, Jill A. ; Bi, Weimin ; Massicotte, Christine ; Miguet, Marguerite ; Brunga, Ledia ; Regan, Brigid M. ; Mo, Kelly ; Tam, Cory ; Hollingsworth, Georgie ; FitzPatrick, David R. ; Canham, Natalie ; Blair, Edward ; Kerr, Bronwyn ; Fry, Andrew E. ; Thomas, Rhys H. ; Shelagh, Joss ; Hurst, Jane A. ; Brittain, Helen ; Blyth, Moira ; Lebel, Robert Roger ; Gerkes, Erica H. ; Davis-Keppen, Laura ; Stein, Quinn ; Dorison, Sara J. ; Benke, Paul J. ; Fassi, Emily ; Corsten-Janssen, Nicole ; Kamsteeg, Erik-Jan ; Mau-Them, Frederic T. ; Bruel, Ange-Line ; Verloes, Alain ; Õunap, Katrin ; Wojcik, Monica H. ; Albert, Dara V.F. ; Venkateswaran, Sunita ; Ware, Tyson ; Liu, Yu-Chi ; Mohammad, Shekeeb S. ; Bizargity, Peyman ; Bacino, Carlos A. ; Leuzzi, Vincenzo ; Martinelli, Simone ; Dallapiccola, Bruno ; Tartaglia, Marco ; Blumkin, Lubov ; Wierenga, Klaas J. ; Purcarin, Gabriela ; O’Byrne, James J. ; Stockler, Sylvia ; Lehman, Anna ; Keren, Boris ; Nougues, Marie-Christine ; Mignot, Cyril ; Auvin, Stéphane ; Nava, Caroline ; Hiatt, Susan M. ; Bebin, Martina ; Shao, Yunru ; Scaglia, Fernando ; Frye, Richard E. ; Jarjour, Imad T. ; Jacques, Stéphanie ; Boucher, Renee-Myriam ; Riou, Emilie ; Srour, Myriam ; Carmant, Lionel ; Lortie, Anne ; Major, Philippe ; Diadori, Paola ; Dubeau, François ; D’Anjou, Guy ; Bourque, Guillaume ; Berkovic, Samuel F. ; Sadleir, Lynette G. ; Campeau, Philippe M. ; Kibar, Zoha ; Lafrenière, Ronald G. ; Girard, Simon L. ; Mercimek-Mahmutoglu, Saadet ; Boelman, Cyrus ; Rouleau, Guy A. ; Scheffer, Ingrid E. ; Mefford, Heather C. ; Andrade, Danielle M. ; Rossignol, Elsa ; Minassian, Berge A. ; Michaud, Jacques L.

American journal of human genetics, 2017-11, Vol.101 (5), p.664-685 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation
Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation
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Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

Schirwani, Schaida ; Pysden, Karen ; Chetcuti, Philip ; Blyth, Moira

Journal of clinical sleep medicine, 2017-11, Vol.13 (11), p.1359-1362

United States: American Academy of Sleep Medicine

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6
Pallister-Killian syndrome: a study of 22 British patients
Pallister-Killian syndrome: a study of 22 British patients
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Pallister-Killian syndrome: a study of 22 British patients

Blyth, Moira ; Maloney, Viv ; Beal, Sarah ; Collinson, Morag ; Huang, Shuwen ; Crolla, John ; Temple, I Karen ; Baralle, Diana

Journal of medical genetics, 2015-07, Vol.52 (7), p.454-464 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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7
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Akawi, Nadia ; McRae, Jeremy ; Ansari, Morad ; Balasubramanian, Meena ; Blyth, Moira ; Brady, Angela F ; Clayton, Stephen ; Cole, Trevor ; Deshpande, Charu ; Fitzgerald, Tomas W ; Foulds, Nicola ; Francis, Richard ; Gabriel, George ; Gerety, Sebastian S ; Goodship, Judith ; Hobson, Emma ; Jones, Wendy D ; Joss, Shelagh ; King, Daniel ; Klena, Nikolai ; Kumar, Ajith ; Lees, Melissa ; Lelliott, Chris ; Lord, Jenny ; McMullan, Dominic ; O'Regan, Mary ; Osio, Deborah ; Piombo, Virginia ; Prigmore, Elena ; Rajan, Diana ; Rosser, Elisabeth ; Sifrim, Alejandro ; Smith, Audrey ; Swaminathan, Ganesh J ; Turnpenny, Peter ; Whitworth, James ; Wright, Caroline F ; Firth, Helen V ; Barrett, Jeffrey C ; Lo, Cecilia W ; FitzPatrick, David R ; Hurles, Matthew E

Nature genetics, 2015-11, Vol.47 (11), p.1363-1369 [Periódico revisado por pares]

United States: Nature Publishing Group

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8
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

Hempel, Annmarie ; Pagnamenta, Alistair T ; Blyth, Moira ; Mansour, Sahar ; McConnell, Vivienne ; Kou, Ikuyo ; Ikegawa, Shiro ; Tsurusaki, Yoshinori ; Matsumoto, Naomichi ; Lo-Castro, Adriana ; Plessis, Ghislaine ; Albrecht, Beate ; Battaglia, Agatino ; Taylor, Jenny C ; Howard, Malcolm F ; Keays, David ; Sohal, Aman Singh ; Kühl, Susanne J ; Kini, Usha ; McNeill, Alisdair

Journal of medical genetics, 2016-03, Vol.53 (3), p.152-162 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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9
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

Nil, Zelha ; Deshwar, Ashish R ; Barish, Scott ; Zhang, Xi ; Choufani, Sanaa ; Le Quesne Stabej, Polona ; Hayes, Ian ; Yap, Patrick ; Haldeman-Englert, Chad ; Wilson, Carolyn ; Prescott, Trine ; Tveten, Kristian ; Vøllo, Arve ; Haynes, Devon ; Wheeler, Patricia G ; Zon, Jessica ; Cytrynbaum, Cheryl ; Jobling, Rebekah ; Blyth, Moira ; Banka, Siddharth ; Afenjar, Alexandra ; Mignot, Cyril ; Robin-Renaldo, Florence ; Keren, Boris ; Kanca, Oguz ; Mao, Xiao ; Wegner, Daniel J ; Sisco, Kathleen ; Shinawi, Marwan ; Wangler, Michael F ; Weksberg, Rosanna ; Yamamoto, Shinya ; Costain, Gregory ; Bellen, Hugo J

2023-11

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10
Enhancing inclusion of diverse populations in genomics: A competence framework
Enhancing inclusion of diverse populations in genomics: A competence framework
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Enhancing inclusion of diverse populations in genomics: A competence framework

Sharif, Saghira M. ; Blyth, Moira ; Ahmed, Mushtaq ; Sheridan, Eamonn ; Saltus, Roiyah ; Yu, Juping ; Tonkin, Emma ; Kirk, Maggie

Journal of genetic counseling, 2020-04, Vol.29 (2), p.282-292 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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