Search Results - "Meeks, Naomi J.L."

A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development by Shapira, Stuart K., Tian, Lin H., Aylsworth, Arthur S., Elias, Ellen R., Hoover-Fong, Julie E., Meeks, Naomi J. L., Souders, Margaret C., Tsai, Anne C.-H., Zackai, Elaine H., Alexander, Aimee A., Yeargin-Allsopp, Marshalyn, Schieve, Laura A.

“…The presence of multiple dysmorphic features in some children with autism spectrum disorder (ASD) might identify distinct ASD phenotypes and serve as potential…”
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A novel GNAS variant presents with disorders of GNAS inactivation and cardiomyopathy by Shelkowitz, Emily, Chan, Christine M., Jones, Tonya, Nakano, Stephanie J., Meeks, Naomi J. L.

“…The GNAS gene (OMIM#139320), located on chromosome 20q13.2, encodes for the alpha‐subunit of the stimulatory signaling protein, Gsα protein. GNAS variants with…”
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Five siblings expand the spectrum of GPC6-related skeletal dysplasia by Crenshaw, Molly M, Meyers, Mariana L, Brown, Kathleen, Slegesky, Valerie, Duis, Jessica, Elias, Ellen R, Saenz, Margarita, Shi, Wen, Filmus, Jorge, Meeks, Naomi J L

“…Skeletal dysplasias broadly include disorders of cartilage or bone. Omodysplasia-1 is a type of skeletal dysplasia caused by biallelic loss of function…”
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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy by Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G., Tsai, Becky P., Gao, Hanlin, Nagy, Peter L., Hyland, Keith, van Dooren, Silvy J. M., Salomons, Gajja S., Van Hove, Johan L. K.

“…Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite…”
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Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation by Mostovoy, Yulia, Yilmaz, Feyza, Chow, Stephen K, Chu, Catherine, Lin, Chin, Geiger, Elizabeth A, Meeks, Naomi J L, Chatfield, Kathryn C, Coughlin, Curtis R, Surti, Urvashi, Kwok, Pui-Yan, Shaikh, Tamim H

“…Abstract Segmental duplications (SDs) are a class of long, repetitive DNA elements whose paralogs share a high level of sequence similarity with each other…”
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Automated syndrome diagnosis by three-dimensional facial imaging by Hallgrímsson, Benedikt, Aponte, J. David, Katz, David C., Bannister, Jordan J., Riccardi, Sheri L., Mahasuwan, Nick, McInnes, Brenda L., Ferrara, Tracey M., Lipman, Danika M., Neves, Amanda B., Spitzmacher, Jared A.J., Larson, Jacinda R., Bellus, Gary A., Pham, Anh M., Aboujaoude, Elias, Benke, Timothy A., Chatfield, Kathryn C., Davis, Shanlee M., Elias, Ellen R., Enzenauer, Robert W., French, Brooke M., Pickler, Laura L., Shieh, Joseph T.C., Slavotinek, Anne, Harrop, A. Robertson, Innes, A. Micheil, McCandless, Shawn E., McCourt, Emily A., Meeks, Naomi J.L., Tartaglia, Nicole R., Tsai, Anne C.-H., Wyse, J. Patrick H., Bernstein, Jonathan A., Sanchez-Lara, Pedro A., Forkert, Nils D., Bernier, Francois P., Spritz, Richard A., Klein, Ophir D.

“…Deep phenotyping is an emerging trend in precision medicine for genetic disease. The shape of the face is affected in 30–40% of known genetic syndromes. Here,…”
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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype by Hiatt, Susan M., Trajkova, Slavica, Sebastiano, Matteo Rossi, Partridge, E. Christopher, Abidi, Fatima E., Anderson, Ashlyn, Ansar, Muhammad, Antonarakis, Stylianos E., Azadi, Azadeh, Bachmann-Gagescu, Ruxandra, Bartuli, Andrea, Benech, Caroline, Berkowitz, Jennifer L., Betti, Michael J., Brusco, Alfredo, Cannon, Ashley, Caron, Giulia, Chen, Yanmin, Cochran, Meagan E., Coleman, Tanner F., Crenshaw, Molly M., Cuisset, Laurence, Curry, Cynthia J., Darvish, Hossein, Demirdas, Serwet, Descartes, Maria, Douglas, Jessica, Dyment, David A., Elloumi, Houda Zghal, Ermondi, Giuseppe, Faoucher, Marie, Farrow, Emily G., Felker, Stephanie A., Fisher, Heather, Hurst, Anna C.E., Joset, Pascal, Kelly, Melissa A., Kmoch, Stanislav, Leadem, Benjamin R., Lyons, Michael J., Macchiaiolo, Marina, Magner, Martin, Mandrile, Giorgia, Mattioli, Francesca, McEown, Megan, Meadows, Sarah K., Medne, Livija, Meeks, Naomi J.L., Montgomery, Sarah, Napier, Melanie P., Natowicz, Marvin, Newberry, Kimberly M., Niceta, Marcello, Noskova, Lenka, Nowak, Catherine B., Noyes, Amanda G., Osmond, Matthew, Prijoles, Eloise J., Pugh, Jada, Pullano, Verdiana, Quélin, Chloé, Rahimi-Aliabadi, Simin, Rauch, Anita, Redon, Sylvia, Reymond, Alexandre, Schwager, Caitlin R., Sellars, Elizabeth A., Scheuerle, Angela E., Shukarova-Angelovska, Elena, Skraban, Cara, Stolerman, Elliot, Sullivan, Bonnie R., Tartaglia, Marco, Thiffault, Isabelle, Uguen, Kevin, Umaña, Luis A., van Bever, Yolande, van der Crabben, Saskia N., van Slegtenhorst, Marjon A., Waisfisz, Quinten, Washington, Camerun, Rodan, Lance H., Myers, Richard M., Cooper, Gregory M.

“…Neurodevelopmental disorders (NDDs) result from highly penetrant variation in hundreds of different genes, some of which have not yet been identified. Using…”
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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions by Ng, Bobby G., Eklund, Erik A., Shiryaev, Sergey A., Dong, Yin Y., Abbott, Mary‐Alice, Asteggiano, Carla, Bamshad, Michael J., Barr, Eileen, Bernstein, Jonathan A., Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K., Ciliberto, Michael A., Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D., Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S., Hoganson, George E., Houck, Kimberly M., Kohler, Jennefer N., Morava, Eva, Larson, Austin A., Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi J.L., Miller, Rebecca, Monaghan, Kristin G., Nickerson, Deborah A., Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A., Scheffer, Ingrid E., Schenone, Andrea Beatriz, Schnur, Rhonda E., Si, Yue, Rowe, Leah J., Serrano Russi, Alvaro H., Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Villanueva, María Mercedes, Wang, Raymond Y., Webster, Richard I., Wilson, Dorcas, Zalan, Alice, Wolfe, Lynne A., Rosenfeld, Jill A., Rhodes, Lindsay, Freeze, Hudson H.

“…Asparagine‐linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X‐linked uridine diphosphate (UDP)‐N‐acetylglucosaminyltransferase…”
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An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis by Starosta, Rodrigo T., Larson, Austin A., Meeks, Naomi J.L., Gracie, Sara, Friederich, Marisa W., Gaughan, Sommer M., Baker, Peter R., Knupp, Kelly G., Michel, Cole R., Reisdorph, Richard, Hock, Daniella H., Stroud, David A., Wood, Tim, Van Hove, Johan L.K.

“…•A multi-omics approach combining rapid whole genome sequencing with rapid cellular proteomics enabled the molecular diagnosis.•Treatment of a neonate with…”
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ClinGen’s Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents by Hunter, Jessica Ezzell, Jenkins, Charisma L., Bulkley, Joanna E., Gilmore, Marian J., Lee, Kristy, Pak, Christine M., Wallace, Kathleen E., Buchanan, Adam H., Foreman, Ann Katherine M., Freed, Amanda S., Goehringer, Scott, Manickam, Kandamurugu, Meeks, Naomi J.L., Ramos, Erin M., Shah, Neethu, Steiner, Robert D., Subramanian, Sai Lakshmi, Trotter, Tracy, Webber, Elizabeth M., Williams, Marc S., Goddard, Katrina A.B., Powell, Bradford C.

“…Synthesis and curation of evidence regarding the clinical actionability of secondary findings (SFs) from genome-scale sequencing are needed to support…”
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Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder by Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert L., Cereda, Anna, Cousin, Margot A., Del Rey Jimenez, Juan C., Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J. L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D. M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J. Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossøy, Sullivan, Jennifer A., Švantnerová, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, Wagner, Matias

“…Purpose We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3 -related disorder (Basilicata–Akhtar…”
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Genetic causes of pituitary hormone deficiencies by Larson, Austin, Nokoff, Natalie J, Meeks, Naomi J L

“…In recent decades, dozens of genes that cause isolated and combined pituitary hormone deficiencies have been discovered. We will review the clinically relevant…”
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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy by Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G., Tsai, Becky P., Gao, Hanlin, Nagy, Peter L., Hyland, Keith, van Dooren, Silvy J. M., Salomons, Gajja S., Van Hove, Johan L. K.

“…Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite…”
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Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder by Tian, Lin H., Wiggins, Lisa D., Schieve, Laura A., Yeargin‐Allsopp, Marshalyn, Dietz, Patricia, Aylsworth, Arthur S., Elias, Ellen R., Hoover‐Fong, Julie E., Meeks, Naomi J. L., Souders, Margaret C., Tsai, Anne C.‐H., Zackai, Elaine H., Alexander, Aimee A., Dowling, Nicole F., Shapira, Stuart K.

“…Previous studies investigating the association between dysmorphology and cognitive, behavioral, and developmental outcomes among individuals with autism…”
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A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia by Finn, Erin, Kripps, Kimberly, Chambers, Christina, Rapp, Michele, Meeks, Naomi J. L., Xu, Fang, Chen, Wuyan, Larson, Austin A., Nokoff, Natalie J.

“…Lipoid congenital adrenal hyperplasia (LCAH) is typically inherited as an autosomal recessive condition. There are 3 reports of individuals with a dominantly…”
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25 - Chromosome Disorders and Inheritance Patterns by Kochhar, Aaina, Meeks, Naomi J.L.

“…Chromosomal disorders are an important cause of miscarriage in pregnancies and multiple congenital anomalies and developmental delays in the pediatric…”
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