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11
Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism
Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism
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Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism

Dwivedi, Alka Chaubey Nee ; Lyons, Michael J ; Kwiatkowski, Kat ; Bartel, Frank O ; Friez, Michael J ; Holden, Kenton R ; Fung, Eric T ; DuPont, Barbara R

Molecular cytogenetics, 2014-12, Vol.7 (1), p.93-93, Article 93 [Periódico revisado por pares]

England: BioMed Central Ltd

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12
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, Lucas M ; Redin, Claire ; Drunat, Severine ; Piton, Amélie ; Lyons, Michael ; Passemard, Sandrine ; Baumann, Clarisse ; Faivre, Laurence ; Thevenon, Julien ; Rivière, Jean-Baptiste ; Isidor, Bertrand ; Gan, Grace ; Francannet, Christine ; Willems, Marjolaine ; Gunel, Murat ; Jones, Julie R ; Gleeson, Joseph G ; Mandel, Jean-Louis ; Stevenson, Roger E ; Friez, Michael J ; Aylsworth, Arthur S

European journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487 [Periódico revisado por pares]

England: Nature Publishing Group

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13
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum
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Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum

Langley, Katherine G. ; Brown, Jordan ; Gerber, Richard J. ; Fox, Janelle ; Friez, Michael J. ; Lyons, Michael ; Schrier Vergano, Samantha A.

American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.3180-3185 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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14
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability
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Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

Vallianatos, Christina N ; Farrehi, Clara ; Friez, Michael J ; Burmeister, Margit ; Keegan, Catherine E ; Iwase, Shigeki

Frontiers in molecular neuroscience, 2018-04, Vol.11, p.104-104 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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15
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Bend, Eric G ; Aref-Eshghi, Erfan ; Everman, David B ; Rogers, R Curtis ; Cathey, Sara S ; Prijoles, Eloise J ; Lyons, Michael J ; Davis, Heather ; Clarkson, Katie ; Gripp, Karen W ; Li, Dong ; Bhoj, Elizabeth ; Zackai, Elaine ; Mark, Paul ; Hakonarson, Hakon ; Demmer, Laurie A ; Levy, Michael A ; Kerkhof, Jennifer ; Stuart, Alan ; Rodenhiser, David ; Friez, Michael J ; Stevenson, Roger E ; Schwartz, Charles E ; Sadikovic, Bekim

Clinical epigenetics, 2019-04, Vol.11 (1), p.64-64, Article 64 [Periódico revisado por pares]

Germany: BioMed Central Ltd

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16
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
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Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

Spellicy, Catherine J ; Peng, Yunhui ; Olewiler, Leah ; Cathey, Sara S ; Rogers, R Curtis ; Bartholomew, Dennis ; Johnson, Jacob ; Alexov, Emil ; Lee, Jennifer A ; Friez, Michael J ; Jones, Julie R

Journal of human genetics, 2019-06, Vol.64 (6), p.561-572 [Periódico revisado por pares]

England: Nature Publishing Group

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17
Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)
Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)
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Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)

Tejada, María Isabel ; Villate, Olatz ; Ibarluzea, Nekane ; de la Hoz, Ana Belén ; Martínez-Bouzas, Cristina ; Beristain, Elena ; Martínez, Francisco ; Friez, Michael J. ; Sobrino, Beatriz ; Barros, Francisco

Frontiers in genetics, 2019-10, Vol.10 [Periódico revisado por pares]

Frontiers Media S.A

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18
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

Aref-Eshghi, Erfan ; Kerkhof, Jennifer ; Pedro, Victor P. ; Barat-Houari, Mouna ; Ruiz-Pallares, Nathalie ; Andrau, Jean-Christophe ; Lacombe, Didier ; Van-Gils, Julien ; Fergelot, Patricia ; Dubourg, Christèle ; Cormier-Daire, Valerie ; Rondeau, Sophie ; Lecoquierre, François ; Saugier-Veber, Pascale ; Nicolas, Gaël ; Lesca, Gaetan ; Chatron, Nicolas ; Sanlaville, Damien ; Vitobello, Antonio ; Faivre, Laurence ; Thauvin-Robinet, Christel ; Laumonnier, Frederic ; Raynaud, Martine ; Alders, Mariëlle ; Mannens, Marcel ; Henneman, Peter ; Hennekam, Raoul C. ; Velasco, Guillaume ; Francastel, Claire ; Ulveling, Damien ; Ciolfi, Andrea ; Pizzi, Simone ; Tartaglia, Marco ; Heide, Solveig ; Héron, Delphine ; Mignot, Cyril ; Keren, Boris ; Whalen, Sandra ; Afenjar, Alexandra ; Bienvenu, Thierry ; Campeau, Philippe M. ; Rousseau, Justine ; Levy, Michael A. ; Brick, Lauren ; Kozenko, Mariya ; Balci, Tugce B. ; Siu, Victoria Mok ; Stuart, Alan ; Kadour, Mike ; Masters, Jennifer ; Takano, Kyoko ; Kleefstra, Tjitske ; de Leeuw, Nicole ; Field, Michael ; Shaw, Marie ; Gecz, Jozef ; Ainsworth, Peter J. ; Lin, Hanxin ; Rodenhiser, David I. ; Friez, Michael J. ; Tedder, Matt ; Lee, Jennifer A. ; DuPont, Barbara R. ; Stevenson, Roger E. ; Skinner, Steven A. ; Schwartz, Charles E. ; Genevieve, David ; Sadikovic, Bekim

American journal of human genetics, 2020-03, Vol.106 (3), p.356-370 [Periódico revisado por pares]

United States: Elsevier Inc

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19
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
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Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas ; Caro-Llopis, Alfonso ; Zeng, Xue ; Robert, Stephanie M. ; Josiah, Sunday S. ; Kiziltug, Emre ; Denommé-Pichon, Anne-Sophie ; Cogné, Benjamin ; Kundishora, Adam J. ; Hao, Le T. ; Li, Hong ; Stevenson, Roger E. ; Louie, Raymond J. ; Deb, Wallid ; Torti, Erin ; Vignard, Virginie ; McWalter, Kirsty ; Raymond, F. Lucy ; Rajabi, Farrah ; Ranza, Emmanuelle ; Grozeva, Detelina ; Coury, Stephanie A. ; Blanc, Xavier ; Brischoux-Boucher, Elise ; Keren, Boris ; Õunap, Katrin ; Reinson, Karit ; Ilves, Pilvi ; Wentzensen, Ingrid M. ; Barr, Eileen E. ; Guihard, Solveig Heide ; Charles, Perrine ; Seaby, Eleanor G. ; Monaghan, Kristin G. ; Rio, Marlène ; van Bever, Yolande ; van Slegtenhorst, Marjon ; Chung, Wendy K. ; Wilson, Ashley ; Quinquis, Delphine ; Bréhéret, Flora ; Retterer, Kyle ; Lindenbaum, Pierre ; Scalais, Emmanuel ; Rhodes, Lindsay ; Stouffs, Katrien ; Pereira, Elaine M. ; Berger, Sara M. ; Milla, Sarah S. ; Jaykumar, Ankita B. ; Cobb, Melanie H. ; Panchagnula, Shreyas ; Duy, Phan Q. ; Vincent, Marie ; Mercier, Sandra ; Gilbert-Dussardier, Brigitte ; Le Guillou, Xavier ; Audebert-Bellanger, Séverine ; Odent, Sylvie ; Schmitt, Sébastien ; Boisseau, Pierre ; Bonneau, Dominique ; Toutain, Annick ; Colin, Estelle ; Pasquier, Laurent ; Redon, Richard ; Bouman, Arjan ; Rosenfeld, Jill. A. ; Friez, Michael J. ; Pérez-Peña, Helena ; Akhtar Rizvi, Syed Raza ; Haider, Shozeb ; Antonarakis, Stylianos E. ; Schwartz, Charles E. ; Martínez, Francisco ; Bézieau, Stéphane ; Kahle, Kristopher T. ; Isidor, Bertrand

Genetics in medicine, 2022-09, Vol.24 (9), p.1941-1951 [Periódico revisado por pares]

United States: Elsevier Inc

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20
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
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Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, Michael A. ; Relator, Raissa ; McConkey, Haley ; Pranckeviciene, Erinija ; Kerkhof, Jennifer ; Barat‐Houari, Mouna ; Bargiacchi, Sara ; Biamino, Elisa ; Palomares Bralo, María ; Cappuccio, Gerarda ; Ciolfi, Andrea ; Clarke, Angus ; DuPont, Barbara R. ; Elting, Mariet W. ; Faivre, Laurence ; Fee, Timothy ; Ferilli, Marco ; Fletcher, Robin S. ; Cherick, Florian ; Foroutan, Aidin ; Friez, Michael J. ; Gervasini, Cristina ; Haghshenas, Sadegheh ; Hilton, Benjamin A. ; Jenkins, Zandra ; Kaur, Simranpreet ; Lewis, Suzanne ; Louie, Raymond J. ; Maitz, Silvia ; Milani, Donatella ; Morgan, Angela T. ; Oegema, Renske ; Østergaard, Elsebet ; Pallares, Nathalie R. ; Piccione, Maria ; Plomp, Astrid S. ; Poulton, Cathryn ; Reilly, Jack ; Rius, Rocio ; Robertson, Stephen ; Rooney, Kathleen ; Rousseau, Justine ; Santen, Gijs W. E. ; Santos‐Simarro, Fernando ; Schijns, Josephine ; Squeo, Gabriella M. ; John, Miya St ; Thauvin‐Robinet, Christel ; Traficante, Giovanna ; Sluijs, Pleuntje J. ; Vergano, Samantha A. ; Vos, Niels ; Walden, Kellie K. ; Azmanov, Dimitar ; Balci, Tugce B. ; Banka, Siddharth ; Gecz, Jozef ; Henneman, Peter ; Lee, Jennifer A. ; Mannens, Marcel M. A. M. ; Roscioli, Tony ; Siu, Victoria ; Amor, David J. ; Baynam, Gareth ; Bend, Eric G. ; Boycott, Kym ; Brunetti‐Pierri, Nicola ; Campeau, Philippe M. ; Campion, Dominique ; Christodoulou, John ; Dyment, David ; Esber, Natacha ; Fahrner, Jill A. ; Fleming, Mark D. ; Genevieve, David ; Heron, Delphine ; Husson, Thomas ; Kernohan, Kristin D. ; McNeill, Alisdair ; Menke, Leonie A. ; Merla, Giuseppe ; Prontera, Paolo ; Rockman‐Greenberg, Cheryl ; Schwartz, Charles ; Skinner, Steven A. ; Stevenson, Roger E. ; Vincent, Marie ; Vitobello, Antonio ; Tartaglia, Marco ; Alders, Marielle ; Tedder, Matthew L. ; Sadikovic, Bekim

Human mutation, 2022-11, Vol.43 (11), p.1609-1628 [Periódico revisado por pares]

United States: Hindawi Limited

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