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Effectiveness of Interventions Targeting Treatable Traits for the Management of Obstructive Airway Diseases: A Systematic Review and Meta-Analysis
Effectiveness of Interventions Targeting Treatable Traits for the Management of Obstructive Airway Diseases: A Systematic Review and Meta-Analysis
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Effectiveness of Interventions Targeting Treatable Traits for the Management of Obstructive Airway Diseases: A Systematic Review and Meta-Analysis

Sarwar, Muhammad Rehan ; McDonald, Vanessa Marie ; Abramson, Michael John ; McLoughlin, Rebecca Frances ; Geethadevi, Gopisankar Mohanannair ; George, Johnson

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2022-09, Vol.10 (9), p.2333-2345.e21 [Periódico revisado por pares]

United States: Elsevier Inc

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2
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness
A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness
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A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

Coppola, Tiziana ; Becken, Bradford ; Van Mater, Heather ; McDonald, Marie Theresa ; Panayotti, Gabriela Maradiaga

BMC pediatrics, 2019-07, Vol.19 (1), p.245-245, Article 245 [Periódico revisado por pares]

England: BioMed Central Ltd

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3
Clinical application of exome sequencing in undiagnosed genetic conditions
Clinical application of exome sequencing in undiagnosed genetic conditions
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Clinical application of exome sequencing in undiagnosed genetic conditions

Need, Anna C ; Shashi, Vandana ; Hitomi, Yuki ; Schoch, Kelly ; Shianna, Kevin V ; McDonald, Marie T ; Meisler, Miriam H ; Goldstein, David B

Journal of medical genetics, 2012-06, Vol.49 (6), p.353-361 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

Khan, Tahir N. ; Khan, Kamal ; Sadeghpour, Azita ; Reynolds, Hannah ; Perilla, Yezmin ; McDonald, Marie T. ; Gallentine, William B. ; Baig, Shahid M. ; Allori, Alexander ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Boyd, Brita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Davis, Erica E. ; Ellestad, Sarah ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Goldberg, Ronald ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Nicholas ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Purves, Todd ; Ross, Sherry ; Sadeghpour, Azita ; Smith, Edward ; Wiener, John ; Davis, Erica E. ; Katsanis, Nicholas

American journal of human genetics, 2019-01, Vol.104 (1), p.94-111 [Periódico revisado por pares]

United States: Elsevier Inc

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5
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
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CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review

Al‐Kateb, Hussam ; Au, P. Y. Billie ; Berland, Siren ; Cogne, Benjamin ; Demurger, Florence ; Fluss, Joel ; Isidor, Bertrand ; Frank, L. Matthew ; Varvagiannis, Konstantinos ; Koolen, David A. ; McDonald, Marie ; Montgomery, Sarah ; Moortgat, Stéphanie ; Deprez, Marie ; Karadurmus, Deniz ; Paulsen, Julie ; Reis, André ; Rieger, Melissa ; Vasileiou, Georgia ; Willing, Marcia ; Shinawi, Marwan

Clinical genetics, 2024-03, Vol.105 (3), p.294-301 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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6
Mutations in WDR62 , encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
Mutations in WDR62 , encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
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Mutations in WDR62 , encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Walsh, Christopher A ; Yu, Timothy W ; Mochida, Ganeshwaran H ; Tischfield, David J ; Sgaier, Sema K ; Flores-Sarnat, Laura ; Sergi, Consolato M ; Topçu, Meral ; McDonald, Marie T ; Barry, Brenda J ; Felie, Jillian M ; Sunu, Christine ; Dobyns, William B ; Folkerth, Rebecca D ; Barkovich, A James

Nature genetics, 2010-11, Vol.42 (11), p.1015-1020 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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7
A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome
A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome
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A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome

Sullivan, Jennifer A. ; Stong, Nicholas ; Baugh, Evan H. ; McDonald, Marie T. ; Takeuchi, Akihito ; Shashi, Vandana

American journal of medical genetics. Part A, 2020-08, Vol.182 (8), p.1947-1951 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Liu, Ning ; Schoch, Kelly ; Luo, Xi ; Pena, Loren D M ; Bhavana, Venkata Hemanjani ; Kukolich, Mary K ; Stringer, Sarah ; Powis, Zöe ; Radtke, Kelly ; Mroske, Cameron ; Deak, Kristen L ; McDonald, Marie T ; McConkie-Rosell, Allyn ; Markert, M Louise ; Kranz, Peter G ; Stong, Nicholas ; Need, Anna C ; Bick, David ; Amaral, Michelle D ; Worthey, Elizabeth A ; Levy, Shawn ; Wangler, Michael F ; Bellen, Hugo J ; Shashi, Vandana ; Yamamoto, Shinya

Human molecular genetics, 2018-07, Vol.27 (14), p.2454-2465 [Periódico revisado por pares]

England: Oxford University Press

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9
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration
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Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration

Khazaei, Sima ; Chen, Carol C.L. ; Andrade, Augusto Faria ; Kabir, Nisha ; Azarafshar, Pariya ; Morcos, Shahir M. ; França, Josiane Alves ; Lopes, Mariana ; Lund, Peder J. ; Danieau, Geoffroy ; Worme, Samantha ; Adnani, Lata ; Nzirorera, Nadine ; Chen, Xiao ; Yogarajah, Gayathri ; Russo, Caterina ; Zeinieh, Michele ; Wong, Cassandra J. ; Bryant, Laura ; Hébert, Steven ; Tong, Bethany ; Sihota, Tianna S. ; Faury, Damien ; Puligandla, Evan ; Jawhar, Wajih ; Sandy, Veronica ; Cowan, Mitra ; Nakada, Emily M. ; Jerome-Majewska, Loydie A. ; Ellezam, Benjamin ; Gomes, Carolina Cavalieri ; Denecke, Jonas ; Lessel, Davor ; McDonald, Marie T. ; Pizoli, Carolyn E. ; Taylor, Kathryn ; Cocanougher, Benjamin T. ; Bhoj, Elizabeth J. ; Gingras, Anne-Claude ; Garcia, Benjamin A. ; Lu, Chao ; Campos, Eric I. ; Kleinman, Claudia L. ; Garzia, Livia ; Jabado, Nada

Cell, 2023-03, Vol.186 (6), p.1162-1178.e20 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation
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Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

Slone, Jesse ; Peng, Yanyan ; Chamberlin, Adam ; Harris, Belinda ; Kaylor, Julie ; McDonald, Marie T ; Lemmon, Monica ; El-Dairi, Mays Antonine ; Tchapyjnikov, Dmitry ; Gonzalez-Krellwitz, Laura A ; Sellars, Elizabeth A ; McConkie-Rosell, Allyn ; Reinholdt, Laura G ; Huang, Taosheng

Journal of human genetics, 2018-12, Vol.63 (12), p.1211-1222 [Periódico revisado por pares]

England: Nature Publishing Group

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