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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome
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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

Wangler, Michael F ; Gonzaga-Jauregui, Claudia ; Gambin, Tomasz ; Penney, Samantha ; Moss, Timothy ; Chopra, Atul ; Probst, Frank J ; Xia, Fan ; Yang, Yaping ; Werlin, Steven ; Eglite, Ieva ; Kornejeva, Liene ; Bacino, Carlos A ; Baldridge, Dustin ; Neul, Jeff ; Lehman, Efrat Lev ; Larson, Austin ; Beuten, Joke ; Muzny, Donna M ; Jhangiani, Shalini ; Gibbs, Richard A ; Lupski, James R ; Beaudet, Arthur Barsh, Gregory S.

PLoS genetics, 2014-03, Vol.10 (3), p.e1004258-e1004258 [Periódico revisado por pares]

United States: Public Library of Science

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2
An Organismal CNV Mutator Phenotype Restricted to Early Human Development
An Organismal CNV Mutator Phenotype Restricted to Early Human Development
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An Organismal CNV Mutator Phenotype Restricted to Early Human Development

Liu, Pengfei ; Yuan, Bo ; Carvalho, Claudia M.B. ; Wuster, Arthur ; Walter, Klaudia ; Zhang, Ling ; Gambin, Tomasz ; Chong, Zechen ; Campbell, Ian M. ; Coban Akdemir, Zeynep ; Gelowani, Violet ; Writzl, Karin ; Bacino, Carlos A. ; Lindsay, Sarah J. ; Withers, Marjorie ; Gonzaga-Jauregui, Claudia ; Wiszniewska, Joanna ; Scull, Jennifer ; Stankiewicz, Paweł ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Zhang, Feng ; Chen, Ken ; Gibbs, Richard A. ; Rautenstrauss, Bernd ; Cheung, Sau Wai ; Smith, Janice ; Breman, Amy ; Shaw, Chad A. ; Patel, Ankita ; Hurles, Matthew E. ; Lupski, James R.

Cell, 2017-02, Vol.168 (5), p.830-842.e7 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities
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Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

Bend, Renee ; Cohen, Lior ; Carter, Melissa T ; Lyons, Michael J ; Niyazov, Dmitriy ; Mikati, Mohamad A ; Rojas, Samantha K ; Person, Richard E ; Si, Yue ; Wentzensen, Ingrid M ; Torti, Erin ; Lee, Jennifer A ; Boycott, Kym M ; Basel-Salmon, Lina ; Ferreira, Carlos R ; Gonzaga-Jauregui, Claudia

European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.76-87 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
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Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Ehmke, Nadja ; Cusmano-Ozog, Kristina ; Koenig, Rainer ; Holtgrewe, Manuel ; Nur, Banu ; Mihci, Ercan ; Babcock, Holly ; Gonzaga-Jauregui, Claudia ; Overton, John D. ; Xiao, Jing ; Martinez, Ariel F. ; Muenke, Maximilian ; Balzer, Alexander ; Jochim, Judith ; El Choubassi, Naji ; Fischer-Zirnsak, Björn ; Huber, Céline ; Kornak, Uwe ; Elsea, Sarah H. ; Cormier-Daire, Valérie ; Ferreira, Carlos R.

Bone (New York, N.Y.), 2020-04, Vol.133, p.115219-115219, Article 115219 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Whole‐Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia
Whole‐Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia
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Whole‐Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia

Gonzaga‐Jauregui, Claudia ; Mir, Sabina ; Penney, Samantha ; Jhangiani, Shalini ; Midgen, Craig ; Finegold, Milton ; Muzny, Donna M. ; Wang, Min ; Bacino, Carlos A. ; Gibbs, Richard A. ; Lupski, James R. ; Kellermayer, Richard ; Hanchard, Neil A.

Journal of pediatric gastroenterology and nutrition, 2014-07, Vol.59 (1), p.17-21 [Periódico revisado por pares]

United States

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6
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis
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Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Prada, Carlos E ; Gonzaga-Jauregui, Claudia ; Tannenbaum, Rebecca ; Penney, Samantha ; Lupski, James R ; Hopkin, Robert J ; Sutton, V. Reid

European journal of medical genetics, 2014-07, Vol.57 (7), p.339-344 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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