The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)
Monaghan, Kristin G., Leach, Natalia T., Pekarek, Dawn, Prasad, Priya, Rose, Nancy C.
Published in Genetics in medicine (01.04.2020)
Published in Genetics in medicine (01.04.2020)
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Journal Article
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
Gregg, Anthony R., Skotko, Brian G., Benkendorf, Judith L., Monaghan, Kristin G., Bajaj, Komal, Best, Robert G., Klugman, Susan, Watson, Michael S.
Published in Genetics in medicine (01.10.2016)
Published in Genetics in medicine (01.10.2016)
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Journal Article
Clinical application of whole-exome sequencing across clinical indications
Retterer, Kyle, Juusola, Jane, Cho, Megan T., Vitazka, Patrik, Millan, Francisca, Gibellini, Federica, Vertino-Bell, Annette, Smaoui, Nizar, Neidich, Julie, Monaghan, Kristin G., McKnight, Dianalee, Bai, Renkui, Suchy, Sharon, Friedman, Bethany, Tahiliani, Jackie, Pineda-Alvarez, Daniel, Richard, Gabriele, Brandt, Tracy, Haverfield, Eden, Chung, Wendy K., Bale, Sherri
Published in Genetics in medicine (01.07.2016)
Published in Genetics in medicine (01.07.2016)
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Journal Article
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics
Monaghan, Kristin G., Lyon, Elaine, Spector, Elaine B.
Published in Genetics in medicine (01.07.2013)
Published in Genetics in medicine (01.07.2013)
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Journal Article
The rationale and emergence of electroconductive biomaterial scaffolds in cardiac tissue engineering
Solazzo, Matteo, O'Brien, Fergal J., Nicolosi, Valeria, Monaghan, Michael G.
Published in APL Bioengineering (01.12.2019)
Published in APL Bioengineering (01.12.2019)
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Book Review
Journal Article
The Role of Macrophages in the Infarcted Myocardium: Orchestrators of ECM Remodeling
O'Rourke, Sinead A, Dunne, Aisling, Monaghan, Michael G
Published in Frontiers in cardiovascular medicine (31.07.2019)
Published in Frontiers in cardiovascular medicine (31.07.2019)
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Journal Article
Late-Holocene floodplain development, land-use, and hydroclimate–flood relationships on the lower Ohio River, US
Bird, Broxton W, Barr, Robert C, Commerford, Julie, Gilhooly, William P, Wilson, Jeremy J, Finney, Bruce, McLauchlan, Kendra, Monaghan, G William
Published in Holocene (Sevenoaks) (01.12.2019)
Published in Holocene (Sevenoaks) (01.12.2019)
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Journal Article
All eyes on you: how researcher presence changes the way you walk
Friesen, Kenzie B., Zhang, Zhaotong, Monaghan, Patrick G., Oliver, Gretchen D., Roper, Jaimie A.
Published in Scientific reports (13.10.2020)
Published in Scientific reports (13.10.2020)
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Journal Article
A deeper understanding of intestinal organoid metabolism revealed by combining fluorescence lifetime imaging microscopy (FLIM) and extracellular flux analyses
Okkelman, Irina A., Neto, Nuno, Papkovsky, Dmitri B., Monaghan, Michael G., Dmitriev, Ruslan I.
Published in Redox biology (01.02.2020)
Published in Redox biology (01.02.2020)
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Journal Article
Cognitive-motor interference in people with essential tremor
Monaghan, Patrick G., Murrah, William M., Walker, Harrison C., Neely, Kristina A., Roper, Jaimie A.
Published in Scientific reports (08.10.2024)
Published in Scientific reports (08.10.2024)
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Journal Article
Functional lower extremity strength influences stepping strategy in community-dwelling older adults during single and dual-task walking
Peoples, Brandon M., Harrison, Kenneth D., Santamaria-Guzman, Keven G., Campos-Vargas, Silvia E., Monaghan, Patrick G., Roper, Jaimie A.
Published in Scientific reports (11.06.2024)
Published in Scientific reports (11.06.2024)
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Journal Article
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
Capri, Yline, Flex, Elisabetta, Krumbach, Oliver H.F., Carpentieri, Giovanna, Cecchetti, Serena, Lißewski, Christina, Rezaei Adariani, Soheila, Schanze, Denny, Brinkmann, Julia, Piard, Juliette, Pantaleoni, Francesca, Lepri, Francesca R., Goh, Elaine Suk-Ying, Chong, Karen, Stieglitz, Elliot, Meyer, Julia, Kuechler, Alma, Bramswig, Nuria C., Sacharow, Stephanie, Strullu, Marion, Vial, Yoann, Vignal, Cédric, Kensah, George, Cuturilo, Goran, Kazemein Jasemi, Neda S., Dvorsky, Radovan, Monaghan, Kristin G., Vincent, Lisa M., Cavé, Hélène, Verloes, Alain, Ahmadian, Mohammad R., Tartaglia, Marco, Zenker, Martin
Published in American journal of human genetics (06.06.2019)
Published in American journal of human genetics (06.06.2019)
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Journal Article
Evaluating Postural Transition Movement Performance in Individuals with Essential Tremor via the Instrumented Timed Up and Go
Monaghan, Patrick G, Murrah, William M, Walker, Harrison C, Neely, Kristina A, Roper, Jaimie A
Published in Sensors (Basel, Switzerland) (01.04.2024)
Published in Sensors (Basel, Switzerland) (01.04.2024)
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Journal Article
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michèle, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Véronique, Courel, Maité, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Béchec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-François, Szelinger, Szabolcs, Dollfus, Hélène, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, Piton, Amélie
Published in American journal of human genetics (05.09.2019)
Published in American journal of human genetics (05.09.2019)
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Journal Article
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez, Xilma, Mathews, Katherine, Panzer, Karin, Brilstra, Eva, van Gassen, Koen L.I., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Sobreira, Nara, Hamosh, Ada, McKnight, Dianalee, Monaghan, Kristin G., Chung, Wendy K.
Published in American journal of human genetics (03.09.2015)
Published in American journal of human genetics (03.09.2015)
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Journal Article
Non-invasive classification of macrophage polarisation by 2P-FLIM and machine learning
Neto, Nuno GB, O'Rourke, Sinead A, Zhang, Mimi, Fitzgerald, Hannah K, Dunne, Aisling, Monaghan, Michael G
Published in eLife (18.10.2022)
Published in eLife (18.10.2022)
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Journal Article
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
Jansen, Sandra, Geuer, Sinje, Pfundt, Rolph, Brough, Rachel, Ghongane, Priyanka, Herkert, Johanna C., Marco, Elysa J., Willemsen, Marjolein H., Kleefstra, Tjitske, Hannibal, Mark, Shieh, Joseph T., Lynch, Sally Ann, Flinter, Frances, FitzPatrick, David R., Gardham, Alice, Bernhard, Birgitta, Ragge, Nicola, Newbury-Ecob, Ruth, Bernier, Raphael, Kvarnung, Malin, Magnusson, E.A. Helena, Wessels, Marja W., van Slegtenhorst, Marjon A., Monaghan, Kristin G., de Vries, Petra, Veltman, Joris A., Lord, Christopher J., Vissers, Lisenka E.L.M., de Vries, Bert B.A.
Published in American journal of human genetics (06.04.2017)
Published in American journal of human genetics (06.04.2017)
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Journal Article
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
Calpena, Eduardo, Hervieu, Alexia, Kaserer, Teresa, Swagemakers, Sigrid M.A., Goos, Jacqueline A.C., Popoola, Olajumoke, Ortiz-Ruiz, Maria Jesus, Barbaro-Dieber, Tina, Bownass, Lucy, Brilstra, Eva H., Brimble, Elise, Foulds, Nicola, Grebe, Theresa A., Harder, Aster V.E., Lees, Melissa M., Monaghan, Kristin G., Newbury-Ecob, Ruth A., Ong, Kai-Ren, Osio, Deborah, Reynoso Santos, Francis Jeshira, Ruzhnikov, Maura R.Z., Telegrafi, Aida, van Binsbergen, Ellen, van Dooren, Marieke F., van der Spek, Peter J., Blagg, Julian, Twigg, Stephen R.F., Mathijssen, Irene M.J., Clarke, Paul A., Wilkie, Andrew O.M.
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Journal Article