Search Results - "Toler, Tomi"

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 by 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

“…Treacher Collins syndrome (TCS) is a rare autosomal dominant mandibulofacial dysostosis, with a prevalence of 0.2–1/10,000. Features include bilateral and…”
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Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females by 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.

“…Via whole-exome sequencing, we identified six females from independent families with a common neurodevelopmental phenotype including developmental delay,…”
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The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results by 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

“…Purpose: Evaluation of the clinician’s role in the optimal interpretation of clinical exome sequencing (ES) results. Methods: Retrospective chart review of the…”
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Expanded carrier screening for reproductive risk assessment: An evidence‐based practice guideline from the National Society of Genetic Counselors by Sagaser, Katelynn G., Malinowski, Jennifer, Westerfield, Lauren, Proffitt, Jennifer, Hicks, Melissa A., Toler, Tomi L., Blakemore, Karin J., Stevens, Blair K., Oakes, Lisa M.

“…Expanded carrier screening (ECS) intends to broadly screen healthy individuals to determine their reproductive chance for autosomal recessive (AR) and X‐linked…”
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Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities by 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

“…Primary coenzyme Q10 (CoQ10) deficiency is a group of inborn errors of metabolism caused by defects in CoQ10 biosynthesis. Biallelic pathogenic variants in…”
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Pathogenic Variants in GPC4 Cause Keipert Syndrome by 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.

“…Glypicans are a family of cell-surface heparan sulfate proteoglycans that regulate growth-factor signaling during development and are thought to play a role in…”
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NIPT: current utilization and implications for the future of prenatal genetic counseling by Buchanan, Amanda, Sachs, Amy, Toler, Tomi, Tsipis, Judith

“…ABSTRACT Background Non‐invasive prenatal testing (NIPT) for select fetal trisomies became clinically available in 2011. When it was introduced, there were no…”
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Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome by 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.

“…Pathogenic variants in KMT2D, which encodes lysine specific methyltransferase 2D, cause autosomal dominant Kabuki syndrome, associated with distinctive…”
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P667: Single gene deletion of FGF3 in a patient with features of 11q13 microdeletion syndrome by Rahi, Hamed, Dickson, Patricia, Toler, Tomi, Corliss, Meagan, Cao, Yang

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Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants by 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

“…SMAD2 is a downstream effector in the TGF‐β signaling pathway, which is important for pattern formation and tissue differentiation. Pathogenic variants in…”
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A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency by 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

“…Mitochondrial disorders are a heterogeneous group of rare, degenerative multisystem disorders affecting the cell's core bioenergetic and signalling functions…”
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Thyroid dysfunction in patients with Down syndrome: Results from a multi‐institutional registry study by 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.

“…The goals of this undertaking were to assess the outcomes of thyroid screening tests and adherence to thyroid screening guidelines across five Down syndrome…”
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Postmortem diagnosis of very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death by Singh, Prapti, Amaro, Deirdre, Obi, Olugbemisola, Kiran, FNU, Hediger, Erin, Toler, Tomi L., Dickson, Patricia I., Grange, Dorothy K.

“…Very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive long chain fatty acid β‐oxidation disorder with a variable clinical…”
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Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations by 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.

“…Dilation or aneurysm of the ascending aorta can progress to acute aortic dissection (Thoracic Aortic Aneurysms and Aortic Dissections, TAAD). Mutations in…”
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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 disorder by 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

“…Purpose: “Jaffe–Campanacci syndrome” describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and café-au-lait…”
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P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7 by Wongkittichote, Parith, Lasio, Laura Duque, Magistrati, Martina, Pathak, Sheel, Sample, Brooke, Carvalho, Daniel, Ortega, Adrianna Banzzatto, de Gusmao, Claudio, Castro, Matheus, Toler, Tomi, Bellacchio, Emanuele, Dallabona, Cristina, Shinawi, Marwan

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Detecting celiac disease in patients with Down syndrome by 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.

“…The main purposes of this undertaking were to determine how often patients with Down syndrome (DS) are screened for celiac disease (CD) across five DS…”
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National down syndrome patient database: Insights from the development of a multi-center registry study by 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.

“…The Down Syndrome Study Group (DSSG) was founded in 2012 as a voluntary, collaborative effort with the goal of supporting evidenced‐based health care…”
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Novel Presentation of a Mosaic STAT5B Gain-of-Function Variant by Schmitt, Erica, Saucier, Nermina, Risma, Samuel, Toler, Tomi, Semkiu, Katarina, Mar, Soe, Cooper, Megan

“…Somatic gain-of-function (GOF) variants in STAT5B have been described in leukemias and lymphomas, and more recently in three patients presenting with nonclonal…”
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Phenotypic, Molecular, and Functional Characterization of CoQ7-Related Primary CoQ10 Deficiency: Novel Hypomorphic Variants and Two Distinct Disease Entities by 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

“…Primary coenzyme Q10 (CoQ 10 ) deficiency is a group of inborn errors of metabolism caused by defects in CoQ 10 biosynthesis. Biallelic pathogenic variants in…”
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