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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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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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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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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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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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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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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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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Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma, Guler, Serhat, Hull, Mariam, Parnes, Mered, Aktas, Dilek, Anlar, Banu, Bayram, Yavuz, Pehlivan, Davut, Posey, Jennifer E., Alavi, Shahryar, Madani Manshadi, Seyed Ali, Alzaidan, Hamad, Al-Owain, Mohammad, Alabdi, Lama, Abdulwahab, Ferdous, Sekiguchi, Futoshi, Hamanaka, Kohei, Fujita, Atsushi, Uchiyama, Yuri, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Elshafie, Reem M., Salayev, Kamran, Guliyeva, Ulviyya, Alkuraya, Fowzan S., Gleeson, Joseph G., Monaghan, Kristin G., Langley, Katherine G., Yang, Hui, Motavaf, Mahsa, Safari, Saeid, Alipour, Mozhgan, Ogata, Kazuhiro, Brown, André E.X., Lupski, James R., Houlden, Henry, Matsumoto, Naomichi
Published in Genetics in medicine (01.01.2023)
Published in Genetics in medicine (01.01.2023)
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Journal Article
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Journal Article
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
Bain, Jennifer M., Cho, Megan T., Telegrafi, Aida, Wilson, Ashley, Brooks, Susan, Botti, Christina, Gowans, Gordon, Autullo, Leigh Anne, Krishnamurthy, Vidya, Willing, Marcia C., Toler, Tomi L., Ben-Zev, Bruria, Elpeleg, Orly, Shen, Yufeng, Retterer, Kyle, Monaghan, Kristin G., Chung, Wendy K.
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
Carrier screening in individuals of Ashkenazi Jewish descent
Gross, Susan J., Pletcher, Beth A., Monaghan, Kristin G.
Published in Genetics in medicine (01.01.2008)
Published in Genetics in medicine (01.01.2008)
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Paleoenvironmental and geomorphic significance of bluff-top dunes along the Au Sable River in Northeastern Lower Michigan, USA
Arbogast, Alan F., Luehmann, Michael D., William Monaghan, G., Lovis, William A., Wang, Hong
Published in Geomorphology (Amsterdam, Netherlands) (15.11.2017)
Published in Geomorphology (Amsterdam, Netherlands) (15.11.2017)
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
Chen, Chun-An, Bosch, Daniëlle G.M., Cho, Megan T., Rosenfeld, Jill A., Shinawi, Marwan, Lewis, Richard Alan, Mann, John, Jayakar, Parul, Payne, Katelyn, Walsh, Laurence, Moss, Timothy, Schreiber, Allison, Schoonveld, Cheri, Monaghan, Kristin G., Elmslie, Frances, Douglas, Ganka, Boonstra, F. Nienke, Millan, Francisca, Cremers, Frans P.M., McKnight, Dianalee, Richard, Gabriele, Juusola, Jane, Kendall, Fran, Ramsey, Keri, Anyane-Yeboa, Kwame, Malkin, Elfrida, Chung, Wendy K., Niyazov, Dmitriy, Pascual, Juan M., Walkiewicz, Magdalena, Veluchamy, Vivekanand, Li, Chumei, Hisama, Fuki M., de Vries, Bert B.A., Schaaf, Christian
Published in Genetics in medicine (01.11.2016)
Published in Genetics in medicine (01.11.2016)
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Journal Article
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
Fregeau, Brieana, Kim, Bum Jun, Hernández-García, Andrés, Jordan, Valerie K., Cho, Megan T., Schnur, Rhonda E., Monaghan, Kristin G., Juusola, Jane, Rosenfeld, Jill A., Bhoj, Elizabeth, Zackai, Elaine H., Sacharow, Stephanie, Barañano, Kristin, Bosch, Daniëlle G.M., de Vries, Bert B.A., Lindstrom, Kristin, Schroeder, Audrey, James, Philip, Kulch, Peggy, Lalani, Seema R., van Haelst, Mieke M., van Gassen, Koen L.I., van Binsbergen, Ellen, Barkovich, A. James, Scott, Daryl A., Sherr, Elliott H.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
Boyle, Lia, Wamelink, Mirjam M.C., Salomons, Gajja S., Roos, Birthe, Pop, Ana, Dauber, Andrew, Hwa, Vivian, Andrew, Melissa, Douglas, Jessica, Feingold, Murray, Kramer, Nancy, Saitta, Sulagna, Retterer, Kyle, Cho, Megan T., Begtrup, Amber, Monaghan, Kristin G., Wynn, Julia, Chung, Wendy K.
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Journal Article
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita
Xue, Shifeng, Maluenda, Jérôme, Marguet, Florent, Shboul, Mohammad, Quevarec, Loïc, Bonnard, Carine, Ng, Alvin Yu Jin, Tohari, Sumanty, Tan, Thong Teck, Kong, Mung Kei, Monaghan, Kristin G., Cho, Megan T., Siskind, Carly E., Sampson, Jacinda B., Rocha, Carolina Tesi, Alkazaleh, Fawaz, Gonzales, Marie, Rigonnot, Luc, Whalen, Sandra, Gut, Marta, Gut, Ivo, Bucourt, Martine, Venkatesh, Byrappa, Laquerrière, Annie, Reversade, Bruno, Melki, Judith
Published in American journal of human genetics (06.04.2017)
Published in American journal of human genetics (06.04.2017)
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