Search Results - "Yeboa, Kwame Anyane"

Assessment of the beliefs, needs, and expectations for genetic counseling of patients with hypermobile Ehlers‐Danlos syndrome by Ahimaz, Priyanka, Kramer, Tamar, Swaroop, Pooja, Mitchell, McKenzie, Hernan, Rebecca, Anyane‐Yeboa, Kwame, Pereira, Elaine M.

“…Ehlers‐Danlos syndrome, hypermobility type (hEDS) is a heritable connective tissue disorder that currently does not have a known molecular etiology. Previous…”
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Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease by Cappuccio, Gerarda, Ceccatelli Berti, Camilla, Baruffini, Enrico, Sullivan, Jennifer, Shashi, Vandana, Jewett, Tamison, Stamper, Tara, Maitz, Silvia, Canonico, Francesco, Revah‐Politi, Anya, Kupchik, Gabriel S., Anyane‐Yeboa, Kwame, Aggarwal, Vimla, Benneche, Andreas, Bratland, Eirik, Berland, Siren, D'Arco, Felice, Alves, Cesar A., Vanderver, Adeline, Longo, Daniela, Bertini, Enrico, Torella, Annalaura, Nigro, Vincenzo, D'Amico, Alessandra, Knaap, Marjo S., Goffrini, Paola, Brunetti‐Pierri, Nicola

“…KARS1 encodes a lysyl‐transfer RNA synthetase (LysRS) that links lysine to its cognate transfer RNA. Two different KARS1 isoforms exert functional effects in…”
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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature by Hemati, Parisa, Revah‐Politi, Anya, Bassan, Haim, Petrovski, Slavé, Bilancia, Colleen G., Ramsey, Keri, Griffin, Nicole G., Bier, Louise, Cho, Megan T., Rosello, Monica, Lynch, Sally Ann, Colombo, Sophie, Weber, Astrid, Haug, Marte, Heinzen, Erin L., Sands, Tristan T., Narayanan, Vinodh, Primiano, Michelle, Aggarwal, Vimla S., Millan, Francisca, Sattler‐Holtrop, Shannon G., Caro‐Llopis, Alfonso, Pillar, Nir, Baker, Janice, Freedman, Rebecca, Kroes, Hester Y., Sacharow, Stephanie, Stong, Nick, Lapunzina, Pablo, Schneider, Michael C., Mendelsohn, Nancy J., Singleton, Amanda, Loik Ramey, Valerie, Wou, Karen, Kuzminsky, Alla, Monfort, Sandra, Weisz Hubshman, Monika, Doyle, Samantha, Iglesias, Alejandro, Martinez, Francisco, Mckenzie, Fiona, Orellana, Carmen, Gassen, Koen L.I., Palomares, Maria, Bazak, Lily, Lee, Andy, Bircher, Ana, Basel‐Vanagaite, Lina, Hafström, Maria, Houge, Gunnar, Goldstein, David B., Anyane‐Yeboa, Kwame

“…De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have…”
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ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature by Kushary, Sulagna Tina, Revah‐Politi, Anya, Barua, Subit, Ganapathi, Mythily, Accogli, Andrea, Aggarwal, Vimla, Brunetti‐Pierri, Nicola, Cappuccio, Gerarda, Capra, Valeria, Fagerberg, Christina R., Gazdagh, Gabriella, Guzman, Edwin, Hadonou, Medard, Harrison, Victoria, Havelund, Kathrine, Iancu, Daniela, Kraus, Alison, Lippa, Natalie C., Mansukhani, Mahesh, McBrian, Danielle, McEntagart, Meriel, Pacio‐Míguez, Marta, Palomares‐Bralo, María, Pottinger, Carrie, Ruivenkamp, Claudia A. L., Sacco, Oliviero, Santen, Gijs W. E., Santos‐Simarro, Fernando, Scala, Marcello, Short, John, Sørensen, Kristina P., Woods, Christopher G., Anyane Yeboa, Kwame

“…Zhu‐Tokita‐Takenouchi‐Kim (ZTTK) syndrome is caused by de novo loss‐of‐function variants in the SON gene (MIM #617140). This multisystemic disorder is…”
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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia by Lines, Matthew A., Goldenberg, Paula, Wong, Ashley, Srivastava, Siddharth, Bayat, Allan, Hove, Hanne, Karstensen, Helena Gásdal, Anyane‐Yeboa, Kwame, Liao, Jun, Jiang, Nan, May, Alison, Guzman, Edwin, Morleo, Manuela, D'Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Castello, Raffaele, McKee, Shane, Ong, Jinfon, Zibdeh‐Lough, Hana, Tran‐Mau‐Them, Frederic, Gerasimenko, Anna, Heron, Delphine, Keren, Boris, Margot, Henri, Sainte Agathe, Jean‐Madeleine, Burglen, Lydie, Voets, Thomas, Vriens, Joris, Innes, A. Micheil, Dyment, David A.

“…TRPM3 encodes a transient receptor potential cation channel of the melastatin family, expressed in the central nervous system and in peripheral sensory neurons…”
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Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities by Rodan, Lance H., Anyane‐Yeboa, Kwame, Chong, Karen, Klein Wassink‐Ruiter, Jolien S., Wilson, Ashley, Smith, Lacey, Kothare, Sanjeev V., Rajabi, Farrah, Blaser, Susan, Ni, Min, DeBerardinis, Ralph J., Poduri, Annapurna, Berry, Gerard T.

“…Polyamines serve a number of vital functions in humans, including regulation of cellular proliferation, intracellular signaling, and modulation of ion…”
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Phylloid terminal hair nevus: A unique clinical entity by Kittler, Nicole W., Antonov, Nina K., Scripps, Tessa B., Anyane‐Yeboa, Kwame, Garzon, Maria C., Lauren, Christine T.

“…We present a case of an otherwise healthy infant with a localized patch of phylloid hypopigmentation bordered by terminal hairs on the back. We believe that…”
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New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation by Roohi, Jasmin, Crowe, Jennifer, Loredan, Denis, Anyane-Yeboa, Kwame, Mansukhani, Mahesh M, Omesi, Lenore, Levine, Jennifer, Revah Politi, Anya, Zha, Shan

“…Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM gene. Typically, it presents in early…”
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Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study by Petrovski, Slavé, Aggarwal, Vimla, Giordano, Jessica L, Stosic, Melissa, Wou, Karen, Bier, Louise, Spiegel, Erica, Brennan, Kelly, Stong, Nicholas, Jobanputra, Vaidehi, Ren, Zhong, Zhu, Xiaolin, Mebane, Caroline, Nahum, Odelia, Wang, Quanli, Kamalakaran, Sitharthan, Malone, Colin, Anyane-Yeboa, Kwame, Miller, Russell, Levy, Brynn, Goldstein, David B, Wapner, Ronald J

“…Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has substantial value. Although…”
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Duplication of the ZIC2 gene is not associated with holoprosencephaly by Jobanputra, Vaidehi, Burke, Alanna, Kwame, Anyane-Yeboa, Shanmugham, Anita, Shirazi, Maryam, Brown, Stephen, Warburton, Peter E., Levy, Brynn, Warburton, Dorothy

“…Cytogenetic testing using genomic microarrays presents a clinical challenge when data regarding the phenotypic consequences of the genomic alteration are not…”
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The usefulness of whole-exome sequencing in routine clinical practice by Iglesias, Alejandro, Anyane-Yeboa, Kwame, Wynn, Julia, Wilson, Ashley, Truitt Cho, Megan, Guzman, Edwin, Sisson, Rebecca, Egan, Claire, Chung, Wendy K.

“…Purpose: Reports of the use of whole-exome sequencing in clinical practice are limited. We report our experience with whole-exome sequencing in 115 patients in…”
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Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome by Dangiolo, Silvana Beatriz, Wilson, Ashley, Jobanputra, Vaidehi, Anyane-Yeboa, Kwame

“…Bohring–Opitz syndrome (BOS) was first described by Bohring et al. [1999]. The authors reported four cases which had several features in common, including a…”
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Genetic testing in individuals with cerebral palsy by May, Halie J, Fasheun, Jennifer A, Bain, Jennifer M, Baugh, Evan H, Bier, Louise E, Revah‐Politi, Anya, Roye, David P, Goldstein, David B, Carmel, Jason B, Lippa, Natalie, Vena, Natalie, Kushary, Sulagna, Hyman, Joshua, Hewson, Barbara, Marboe, Charles, Anyane‐Yeboa, Kwame, Aggarwal, Vimla

“…AIM To determine which patients with cerebral palsy (CP) should undergo genetic testing, we compared the rate of likely causative genetic variants from…”
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Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination by Damseh, Nadirah, Simonin, Alexandre, Jalas, Chaim, Picoraro, Joseph A, Shaag, Avraham, Cho, Megan T, Yaacov, Barak, Neidich, Julie, Al-Ashhab, Motee, Juusola, Jane, Bale, Sherri, Telegrafi, Aida, Retterer, Kyle, Pappas, John G, Moran, Ellen, Cappell, Joshua, Anyane Yeboa, Kwame, Abu-Libdeh, Bassam, Hediger, Matthias A, Chung, Wendy K, Elpeleg, Orly, Edvardson, Simon

“…L-serine plays an essential role in neuronal development and function. Although a non-essential amino acid, L-serine must be synthesised within the brain…”
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A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis by Lubell, Tamar, Garzon, Maria, Anyane Yeboa, Kwame, Shah, Bina

“…Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor…”
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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms by Kaur, Maninder, Blair, Justin, Devkota, Batsal, Fortunato, Sierra, Clark, Dinah, Lawrence, Audrey, Kim, Jiwoo, Do, Wonwook, Semeo, Benjamin, Katz, Olivia, Mehta, Devanshi, Yamamoto, Nobuko, Schindler, Emma, Al Rawi, Zayd, Wallace, Nina, Wilde, Jonathan J., McCallum, Jennifer, Liu, Jinglan, Xu, Dongbin, Jackson, Marie, Rentas, Stefan, Tayoun, Ahmad Abou, Zhe, Zhang, Abdul‐Rahman, Omar, Allen, Bill, Angula, Moris A., Anyane‐Yeboa, Kwame, Argente, Jesús, Arn, Pamela H., Armstrong, Linlea, Basel‐Salmon, Lina, Baynam, Gareth, Bird, Lynne M., Bruegger, Daniel, Ch'ng, Gaik‐Siew, Chitayat, David, Clark, Robin, Cox, Gerald F., Dave, Usha, DeBaere, Elfrede, Field, Michael, Graham Jr, John M., Gripp, Karen W., Greenstein, Robert, Gupta, Neerja, Heidenreich, Randy, Hoffman, Jodi, Hopkin, Robert J., Jones, Kenneth L., Jones, Marilyn C., Kariminejad, Ariana, Kogan, Jillene, Lace, Baiba, Leroy, Julian, Lynch, Sally Ann, McDonald, Marie, Meagher, Kirsten, Mendelsohn, Nancy, Micule, Ieva, Moeschler, John, Nampoothiri, Sheela, Ohashi, Kaoru, Powell, Cynthia M., Ramanathan, Subhadra, Raskin, Salmo, Roeder, Elizabeth, Rio, Marlene, Rope, Alan F., Sangha, Karan, Scheuerle, Angela E., Schneider, Adele, Shalev, Stavit, Siu, Victoria, Smith, Rosemarie, Stevens, Cathy, Tkemaladze, Tinatin, Toimie, John, Toriello, Helga, Turner, Anne, Wheeler, Patricia G., White, Susan M., Young, Terri, Loomes, Kathleen M., Pipan, Mary, Harrington, Ann Tokay, Zackai, Elaine, Rajagopalan, Ramakrishnan, Conlin, Laura, Deardorff, Matthew A., McEldrew, Deborah, Pie, Juan, Ramos, Feliciano, Musio, Antonio, Kline, Antonie D., Izumi, Kosuke, Raible, Sarah E., Krantz, Ian D.

“…Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth…”
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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder by Kumble, Smitha, Levy, Amanda M., Punetha, Jaya, Gao, Hua, Ah Mew, Nicholas, Anyane‐Yeboa, Kwame, Benke, Paul J., Berger, Sara M., Bjerglund, Lise, Campos‐Xavier, Belinda, Ciliberto, Michael, Cohen, Julie S., Comi, Anne M., Curry, Cynthia, Damaj, Lena, Denommé‐Pichon, Anne‐Sophie, Emrick, Lisa, Faivre, Laurence, Fasano, Mary Beth, Fiévet, Alice, Finkel, Richard S., García‐Miñaúr, Sixto, Gerard, Amanda, Gomez‐Puertas, Paulino, Guillen Sacoto, Maria J., Hoffman, Trevor L., Howard, Lillian, Iglesias, Alejandro D., Izumi, Kosuke, Larson, Austin, Leiber, Anja, Lozano, Reymundo, Marcos‐Alcalde, Iñigo, Mintz, Cassie S., Mullegama, Sureni V., Møller, Rikke S., Odent, Sylvie, Oppermann, Henry, Ostergaard, Elsebet, Pacio‐Míguez, Marta, Palomares‐Bralo, Maria, Parikh, Sumit, Paulson, Anna M., Platzer, Konrad, Posey, Jennifer E., Potocki, Lorraine, Revah‐Politi, Anya, Rio, Marlene, Ritter, Alyssa L., Robinson, Scott, Rosenfeld, Jill A., Santos‐Simarro, Fernando, Sousa, Sérgio B., Wéber, Mathys, Xie, Yili, Chung, Wendy K., Brown, Natasha J., Tümer, Zeynep

“…De novo variants in QRICH1 (Glutamine‐rich protein 1) has recently been reported in 11 individuals with intellectual disability (ID). The function of QRICH1 is…”
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De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment by Okur, Volkan, Cho, Megan T, van Wijk, Richard, van Oirschot, Brigitte, Picker, Jonathan, Coury, Stephanie A, Grange, Dorothy, Manwaring, Linda, Krantz, Ian, Muraresku, Colleen Clark, Hulick, Peter J, May, Holley, Pierce, Eric, Place, Emily, Bujakowska, Kinga, Telegrafi, Aida, Douglas, Ganka, Monaghan, Kristin G, Begtrup, Amber, Wilson, Ashley, Retterer, Kyle, Anyane-Yeboa, Kwame, Chung, Wendy K

“…Hexokinase 1 (HK1) phosphorylates glucose to glucose-6-phosphate, the first rate-limiting step in glycolysis. Homozygous and heterozygous variants in HK1 have…”
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations by 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

“…Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by…”
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COVID-19’s Impact on Genetics at One Medical Center in New York by Pereira, Elaine M., Chung, Wendy K.

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