Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
Angelozzi, Marco, Karvande, Anirudha, Molin, Arnaud N, Ritter, Alyssa L, Leonard, Jacqueline M M, Savatt, Juliann M, Douglass, Kristen, Myers, Scott M, Grippa, Mina, Tolchin, Dara, Zackai, Elaine, Donoghue, Sarah, Hurst, Anna C E, Descartes, Maria, Smith, Kirstin, Velasco, Danita, Schmanski, Andrew, Crunk, Amy, Tokita, Mari J, de Lange, Iris M, van Gassen, Koen, Robinson, Hannah, Guegan, Katie, Suri, Mohnish, Patel, Chirag, Bournez, Marie, Faivre, Laurence, Tran-Mau-Them, Frédéric, Baker, Janice, Fabie, Noelle, Weaver, K, Shillington, Amelle, Hopkin, Robert J, Barge-Schaapveld, Daniela Q C.M, Ruivenkamp, Claudia AL, Bökenkamp, Regina, Vergano, Samantha, Seco Moro, Maria Noelia, Díaz de Bustamante, Aranzazu, Misra, Vinod K, Kennelly, Kelly, Rogers, Caleb, Friedman, Jennifer, Wigby, Kristen M, Lenberg, Jerica, Graziano, Claudio, Ahrens-Nicklas, Rebecca C, Lefebvre, Veronique
Published in Journal of medical genetics (01.11.2022)
Published in Journal of medical genetics (01.11.2022)
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Journal Article
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Güleç, Elif Yýlmaz, Gezdirici, Alper, Nöthe-Menchen, Tabea, Höben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johannes, Wu, Kaman, Goldmuntz, Elizabeth, Čuturilo, Goran, Krock, Bryan, Ritter, Alyssa, Hjeij, Rim, Bakey, Zeineb, Pennekamp, Petra, Dworniczak, Bernd, Brunner, Han, Peterlin, Borut, Tanidir, Cansaran, Olbrich, Heike, Omran, Heymut, Schmidts, Miriam
Published in American journal of human genetics (06.12.2018)
Published in American journal of human genetics (06.12.2018)
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Journal Article
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
Nixon, Kevin C.J., Rousseau, Justine, Stone, Max H., Sarikahya, Mohammed, Ehresmann, Sophie, Mizuno, Seiji, Matsumoto, Naomichi, Miyake, Noriko, Baralle, Diana, McKee, Shane, Izumi, Kosuke, Ritter, Alyssa L., Heide, Solveig, Héron, Delphine, Depienne, Christel, Titheradge, Hannah, Kramer, Jamie M., Campeau, Philippe 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
Genotype–phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines
Kauffman, Hunter, Ahrens-Nicklas, Rebecca C., Calderon-Anyosa, Renzo J. C., Ritter, Alyssa L., Lin, Kimberly Y., Rossano, Joseph W., Quartermain, Michael D., Banerjee, Anirban
Published in Pediatric research (01.08.2021)
Published in Pediatric research (01.08.2021)
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Journal Article
Electrocardiographic Findings in Genotype-Positive and Non-sarcomeric Children with Definite Hypertrophic Cardiomyopathy and Subclinical Variant Carriers
Anvekar, Priyanka, Stephens, Paul, Calderon-Anyosa, Renzo J. C., Kauffman, Hunter L., Burstein, Danielle S., Ritter, Alyssa L., Ahrens-Nicklas, Rebecca C., Vetter, Victoria L., Banerjee, Anirban
Published in Pediatric cardiology (01.12.2024)
Published in Pediatric cardiology (01.12.2024)
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Journal Article
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
Expanding the phenotypic spectrum of ARCN1-related syndrome
Ritter, Alyssa L., Gold, Jessica, Hayashi, Hiroshi, Ackermann, Amanda M., Hanke, Stephanie, Skraban, Cara, Cuddapah, Sanmati, Bhoj, Elizabeth, Li, Dong, Kuroda, Yukiko, Wen, Jessica, Takeda, Ryojun, Bibb, Audrey, El Chehadeh, Salima, Piton, Amélie, Ohl, Jeanine, Kukolich, Mary K., Nagasaki, Keisuke, Kato, Kohji, Ogi, Tomoo, Bhatti, Tricia, Russo, Pierre, Krock, Bryan, Murrell, Jill R., Sullivan, Jennifer A., Shashi, Vandana, Stong, Nicholas, Hakonarson, Hakon, Sawano, Kentaro, Torti, Erin, Willaert, Rebecca, Si, Yue, Wilcox, William Ross, Wirgenes, Katrine Verena, Thomassen, Kristian, Carlotti, Katherine, Erwin, Angelika, Lazier, Joanna, Marquardt, Thorsten, He, Miao, Edmondson, Andrew C., Izumi, Kosuke
Published in Genetics in medicine (01.06.2022)
Published in Genetics in medicine (01.06.2022)
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Journal Article
MYH7 variants cause complex congenital heart disease
Ritter, Alyssa, Leonard, Jacqueline, Gray, Christopher, Izumi, Kosuke, Levinson, Katharine, Nair, Divya R., O'Connor, Matthew, Rossano, Joseph, Shankar, Venkat, Chowns, Jessica, Marzolf, Amy, Owens, Anjali, Ahrens‐Nicklas, Rebecca C.
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
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Journal Article
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients
Cohen, Jennifer L., Schrier Vergano, Samantha A., Mazzola, Sarah, Strong, Alanna, Keena, Beth, McDougall, Carey, Ritter, Alyssa, Li, Dong, Bedoukian, Emma C., Burke, Leah W., Hoffman, Amber, Zurcher, Victoria, Krantz, Ian D., Izumi, Kosuke, Bhoj, Elizabeth, Zackai, Elaine H., Deardorff, Matthew A.
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
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Journal Article
Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital
Ritter, Alyssa L., McDougall, Carey, Skraban, Cara, Medne, Livija, Bedoukian, Emma C., Asher, Stephanie B., Balciuniene, Jorune, Campbell, Colleen D., Baker, Samuel W., Denenberg, Elizabeth H., Mazzola, Sarah, Fiordaliso, Sarah K., Krantz, Ian D., Kaplan, Paige, Ierardi‐Curto, Lynne, Santani, Avni B., Zackai, Elaine H., Izumi, Kosuke
Published in American journal of medical genetics. Part A (01.09.2018)
Published in American journal of medical genetics. Part A (01.09.2018)
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Journal Article
DOCK3‐related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia
Iwata‐Otsubo, Aiko, Ritter, Alyssa L., Weckselbatt, Brooke, Ryan, Nicole R., Burgess, David, Conlin, Laura K., Izumi, Kosuke
Published in American journal of medical genetics. Part A (01.01.2018)
Published in American journal of medical genetics. Part A (01.01.2018)
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Journal Article
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Zhang, Li Xin, Lemire, Gabrielle, Gonzaga-Jauregui, Claudia, Molidperee, Sirinart, Galaz-Montoya, Carolina, Liu, David S., Verloes, Alain, Shillington, Amelle G., Izumi, Kosuke, Ritter, Alyssa L., Keena, Beth, Zackai, Elaine, Li, Dong, Bhoj, Elizabeth, Tarpinian, Jennifer M., Bedoukian, Emma, Kukolich, Mary K., Innes, A. Micheil, Ediae, Grace U., Sawyer, Sarah L., Nair, Karippoth Mohandas, Soumya, Para Chottil, Subbaraman, Kinattinkara R., Probst, Frank J., Bassetti, Jennifer A., Sutton, Reid V., Gibbs, Richard A., Brown, Chester, Boone, Philip M., Holm, Ingrid A., Tartaglia, Marco, Ferrero, Giovanni Battista, Niceta, Marcello, Dentici, Maria Lisa, Radio, Francesca Clementina, Keren, Boris, Wells, Constance F., Coubes, Christine, Laquerrière, Annie, Aziza, Jacqueline, Dubucs, Charlotte, Nampoothiri, Sheela, Mowat, David, Patel, Millan S., Bracho, Ana, Cammarata-Scalisi, Francisco, Gezdirici, Alper, Fernandez-Jaen, Alberto, Hauser, Natalie, Zarate, Yuri A., Bosanko, Katherine A., Dieterich, Klaus, Carey, John C., Chong, Jessica X., Nickerson, Deborah A., Bamshad, Michael J., Lee, Brendan H., Yang, Xiang-Jiao, Lupski, James R., Campeau, Philippe M.
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
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Journal Article
Genetic variant burden and adverse outcomes in pediatric cardiomyopathy
Burstein, Danielle S., Gaynor, J. William, Griffis, Heather, Ritter, Alyssa, Connor, Matthew J. O’, Rossano, Joseph W., Lin, Kimberly Y., Ahrens-Nicklas, Rebecca C.
Published in Pediatric research (01.05.2021)
Published in Pediatric research (01.05.2021)
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Journal Article
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Paul, Maimuna S., Duncan, Anna R., Genetti, Casie A., Pan, Hongling, Jackson, Adam, Grant, Patricia E., Shi, Jiahai, Pinelli, Michele, Brunetti-Pierri, Nicola, Garza-Flores, Alexandra, Shahani, Dave, Saneto, Russell P., Zampino, Giuseppe, Leoni, Chiara, Agolini, Emanuele, Novelli, Antonio, Blümlein, Ulrike, Haack, Tobias B., Heinritz, Wolfram, Matzker, Eva, Alhaddad, Bader, Abou Jamra, Rami, Bartolomaeus, Tobias, AlHamdan, Saber, Carapito, Raphael, Isidor, Bertrand, Bahram, Seiamak, Ritter, Alyssa, Izumi, Kosuke, Shakked, Ben Pode, Barel, Ortal, Ben Zeev, Bruria, Begtrup, Amber, Carere, Deanna Alexis, Mullegama, Sureni V., Palculict, Timothy Blake, Calame, Daniel G., Schwan, Katharina, Aycinena, Alicia R.P., Traberg, Rasa, Douzgou, Sofia, Pirt, Harrison, Ismayilova, Naila, Banka, Siddharth, Chao, Hsiao-Tuan, Agrawal, Pankaj B.
Published in American journal of human genetics (05.01.2023)
Published in American journal of human genetics (05.01.2023)
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Journal Article