Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females von 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.

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Pathogenic Variants in GPC4 Cause Keipert Syndrome von Amor, David J., Stephenson, Sarah E.M., Mustapha, Mirna, Mensah, Martin A., Ockeloen, Charlotte W., Lee, Wei Shern, Tankard, Rick M., Phelan, Dean G., Shinawi, Marwan, de Brouwer, Arjan P.M., Pfundt, Rolph, Dowling, Cari, Toler, Tomi L., Sutton, V. Reid, Agolini, Emanuele, Rinelli, Martina, Capolino, Rossella, Martinelli, Diego, Zampino, Giuseppe, Dumić, Miroslav, Reardon, William, Shaw-Smith, Charles, Leventer, Richard J., Delatycki, Martin B., Kleefstra, Tjitske, Mundlos, Stefan, Mortier, Geert, Bahlo, Melanie, Allen, Nicola J., Lockhart, Paul J.

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Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome von Baldridge, Dustin, Spillmann, Rebecca C., Wegner, Daniel J., Wambach, Jennifer A., White, Frances V., Sisco, Kathleen, Toler, Tomi L., Dickson, Patricia I., Cole, F. Sessions, Shashi, Vandana, Grange, Dorothy K.

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Postmortem diagnosis of very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death von Singh, Prapti, Amaro, Deirdre, Obi, Olugbemisola, Kiran, FNU, Hediger, Erin, Toler, Tomi L., Dickson, Patricia I., Grange, Dorothy K.

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The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results von Baldridge, Dustin, Heeley, Jennifer, Vineyard, Marisa, Manwaring, Linda, Toler, Tomi L., Fassi, Emily, Fiala, Elise, Brown, Sarah, Goss, Charles W., Willing, Marcia, Grange, Dorothy K., Kozel, Beth A., Shinawi, Marwan

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POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 von Sanchez, Elodie, Laplace-Builhé, Béryl, Mau-Them, Frédéric Tran, Richard, Eric, Goldenberg, Alice, Toler, Tomi L., Guignard, Thomas, Gatinois, Vincent, Vincent, Marie, Blanchet, Catherine, Boland, Anne, Bihoreau, Marie Thérèse, Deleuze, Jean-Francois, Olaso, Robert, Nephi, Walton, Lüdecke, Hermann-Josef, Verheij, Joke, Moreau-Lenoir, Florence, Denoyelle, Françoise, Rivière, Jean-Baptiste, Laplanche, Jean-Louis, Willing, Marcia, Captier, Guillaume, Apparailly, Florence, Wieczorek, Dagmar, Collet, Corinne, Djouad, Farida, Geneviève, David

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Expanded carrier screening for reproductive risk assessment: An evidence‐based practice guideline from the National Society of Genetic Counselors von Sagaser, Katelynn G., Malinowski, Jennifer, Westerfield, Lauren, Proffitt, Jennifer, Hicks, Melissa A., Toler, Tomi L., Blakemore, Karin J., Stevens, Blair K., Oakes, Lisa M.

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Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities von Wongkittichote, Parith, Duque Lasio, Maria Laura, Magistrati, Martina, Pathak, Sheel, Sample, Brooke, Carvalho, Daniel Rocha, Ortega, Adriana Banzzatto, Castro, Matheus Augusto Araújo, de Gusmao, Claudio M., Toler, Tomi L., Bellacchio, Emanuele, Dallabona, Cristina, Shinawi, Marwan

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Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants von Granadillo, Jorge L., Chung, Wendy K., Hecht, Leah, Corsten‐Janssen, Nicole, Wegner, Daniel, Nij Bijvank, Sebastiaan W.A., Toler, Tomi L., Pineda‐Alvarez, Daniel E., Douglas, Ganka, Murphy, Joshua J., Shimony, Joshua, Shinawi, Marwan

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A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency von Lines, Matthew A, Cuillerier, Alexanne, Chakraborty, Pranesh, Naas, Turaya, Duque Lasio, M Laura, Michaud, Jean, Pileggi, Chantal, Harper, Mary-Ellen, Burelle, Yan, Toler, Tomi L, Sondheimer, Neal, Crawford, Heather P, Millan, Francisca, Geraghty, Michael T

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Thyroid dysfunction in patients with Down syndrome: Results from a multi‐institutional registry study von Lavigne, Jenifer, Sharr, Christianne, Elsharkawi, Ibrahim, Ozonoff, Al, Baumer, Nicole, Brasington, Campbell, Cannon, Sheila, Crissman, Blythe, Davidson, Emily, Florez, Jose C., Kishnani, Priya, Lombardo, Angela, Lyerly, Jordan, McDonough, Mary Ellen, Schwartz, Alison, Berrier, Kathryn, Sparks, Susan, Stock‐Guild, Kara, Toler, Tomi L., Vellody, Kishore, Voelz, Lauren, Skotko, Brian G.

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Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations von Teekakirikul, Polakit, Milewicz, Dianna M., Miller, David T., Lacro, Ronald V., Regalado, Ellen S., Rosales, Ana Maria, Ryan, Daniel P., Toler, Tomi L., Lin, Angela E.

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Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct... von Stewart, Douglas R., Brems, Hilde, Gomes, Alicia G., Ruppert, Sarah L., Callens, Tom, Williams, Jennifer, Claes, Kathleen, Bober, Michael B., Hachen, Rachel, Kaban, Leonard B., Li, Hua, Lin, Angela, McDonald, Marie, Melancon, Serge, Ortenberg, June, Radtke, Heather B., Samson, Ignace, Saul, Robert A., Shen, Joseph, Siqveland, Elizabeth, Toler, Tomi L., van Maarle, Merel, Wallace, Margaret, Williams, Misti, Legius, Eric, Messiaen, Ludwine

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Detecting celiac disease in patients with Down syndrome von Sharr, Christianne, Lavigne, Jenifer, Elsharkawi, Ibrahim M. A., Ozonoff, Al, Baumer, Nicole, Brasington, Campbell, Cannon, Sheila, Crissman, Blythe, Davidson, Emily, Florez, Jose C., Kishnani, Priya, Lombardo, Angela, Lyerly, Jordan, McDonough, Mary Ellen, Schwartz, Alison, Berrier, Kathryn L., Sparks, Susan, Stock-Guild, Kara, Toler, Tomi L., Vellody, Kishore, Voelz, Lauren, Skotko, Brian G.

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National down syndrome patient database: Insights from the development of a multi-center registry study von Lavigne, Jenifer, Sharr, Christianne, Ozonoff, Al, Prock, Lisa Albers, Baumer, Nicole, Brasington, Campbell, Cannon, Sheila, Crissman, Blythe, Davidson, Emily, Florez, Jose C., Kishnani, Priya, Lombardo, Angela, Lyerly, Jordan, McCannon, Jessica B., McDonough, Mary Ellen, Schwartz, Alison, Berrier, Kathryn L., Sparks, Susan, Stock-Guild, Kara, Toler, Tomi L., Vellody, Kishore, Voelz, Lauren, Skotko, Brian G.

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Phenotypic, Molecular, and Functional Characterization of CoQ7-Related Primary CoQ10 Deficiency: Novel Hypomorphic Variants and Two Distinct Disease Entities von Wongkittichote, Parith, Lasio, Maria Laura Duque, Magistrati, Martina, Pathak, Sheel, Sample, Brooke, Carvalho, Daniel Rocha, Ortega, Adriana Banzzatto, Castro, Matheus Augusto Araújo, de Gusmao, Claudio M., Toler, Tomi L., Bellacchio, Emanuele, Dallabona, Cristina, Shinawi, Marwan

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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior von Harris, Holly K., Nakayama, Tojo, Lai, Jenny, Zhao, Boxun, Argyrou, Nikoleta, Gubbels, Cynthia S., Soucy, Aubrie, Genetti, Casie A., Suslovitch, Victoria, Rodan, Lance H., Tiller, George E., Lesca, Gaetan, Gripp, Karen W., Asadollahi, Reza, Hamosh, Ada, Applegate, Carolyn D., Turnpenny, Peter D., Simon, Marleen E.H., Volker-Touw, Catharina M.L., Gassen, Koen L.I. van, Binsbergen, Ellen van, Pfundt, Rolph, Gardeitchik, Thatjana, Vries, Bert B.A. de, Immken, LaDonna L., Buchanan, Catherine, Willing, Marcia, Toler, Tomi L., Fassi, Emily, Baker, Laura, Vansenne, Fleur, Wang, Xiadong, Ambrus, Julian L., Fannemel, Madeleine, Posey, Jennifer E., Agolini, Emanuele, Novelli, Antonio, Rauch, Anita, Boonsawat, Paranchai, Fagerberg, Christina R., Larsen, Martin J., Kibaek, Maria, Labalme, Audrey, Poisson, Alice, Payne, Katelyn K., Walsh, Laurence E., Aldinger, Kimberly A., Balciuniene, Jorune, Skraban, Cara, Gray, Christopher, Murrell, Jill, Bupp, Caleb P., Pascolini, Giulia, Grammatico, Paola, Broly, Martin, Küry, Sébastien, Nizon, Mathilde, Rasool, Iqra Ghulam, Zahoor, Muhammad Yasir, Kraus, Cornelia, Reis, André, Iqbal, Muhammad, Uguen, Kevin, Audebert-Bellanger, Severine, Ferec, Claude, Redon, Sylvia, Baker, Janice, Wu, Yunhong, Zampino, Guiseppe, Syrbe, Steffan, Brosse, Ines, Jamra, Rami Abou, Dobyns, William B., Cohen, Lilian L., Blomhoff, Anne, Mignot, Cyril, Keren, Boris, Courtin, Thomas, Agrawal, Pankaj B., Beggs, Alan H., Yu, Timothy W.

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Initial symptom presentation in young pediatric patients with classic pathogenic variants in the gene: Data from the Fabry MOPPet study von Laney, Dawn A., Houde, Morgan F., Foley, Allison, Peck, Dawn S., Atherton, Andrea M., Toler, Tomi L., Manwaring, Linda, Nimmons, Keirsa, Grange, Dorothy K., Kidwell, Christine, Heese, Bryce A., Holida, Myrl D., Auray-Blais, Christiane

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Initial symptom presentation in young pediatric patients with classic pathogenic variants in the GLA gene: Data from the Fabry MOPPet study von Laney, Dawn A., Houde, Morgan F., Foley, Allison, Peck, Dawn S., Atherton, Andrea M., Toler, Tomi L., Manwaring, Linda, Nimmons, Keirsa, Grange, Dorothy K., Kidwell, Christine, Heese, Bryce A., Holida, Myrl D., Auray-Blais, Christiane

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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy von Klöckner, Chiara, Sticht, Heinrich, Zacher, Pia, Popp, Bernt, Babcock, Holly E., Bakker, Dewi P., Barwick, Katy, Bonfert, Michaela V., Bönnemann, Carsten G., Brilstra, Eva H., Chung, Wendy K., Clarke, Angus J., Devine, Patrick, Donkervoort, Sandra, Fraser, Jamie L., Friedman, Jennifer, Gates, Alyssa, Ghoumid, Jamal, Hobson, Emma, Horvath, Gabriella, Keller-Ramey, Jennifer, Keren, Boris, Kurian, Manju A., Lee, Virgina, Leppig, Kathleen A., Lundgren, Johan, McDonald, Marie T., McLaughlin, Heather M., McTague, Amy, Mefford, Heather C., Mignot, Cyril, Mikati, Mohamad A., Nava, Caroline, Raymond, F. Lucy, Sampson, Julian R., Sanchis-Juan, Alba, Shashi, Vandana, Shieh, Joseph T.C., Shinawi, Marwan, Slavotinek, Anne, Stödberg, Tommy, Stong, Nicholas, Sullivan, Jennifer A., Taylor, Ashley C., Toler, Tomi L., van den Boogaard, Marie-José, van der Crabben, Saskia N., van Gassen, Koen L.I., van Jaarsveld, Richard H., Van Ziffle, Jessica, Wadley, Alexandrea F., Wagner, Matias, Wigby, Kristen, Wortmann, Saskia B., Zarate, Yuri A., Møller, Rikke S., Lemke, Johannes R., Platzer, Konrad

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