Search Results - "Ray, Joseph W"

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families by Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.

“…Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11–13, have…”
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Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics by Adams, Darius, Andersson, Hans C., Bausell, Heather, Crivelly, Kea, Eggerding, Caroline, Lah, Melissa, Lilienstein, Joshua, Lindstrom, Kristin, McNutt, Markey, Ray, Joseph W., Saavedra, Heather, Sacharow, Stephanie, Starin, Danielle, Tiffany-Amaro, Jennifer, Thomas, Janet, Vucko, Erika, Wessenberg, Leah B., Whitehall, Kaleigh

“…To present a case series that illustrates real-world use of pegvaliase based on the initial experiences of US healthcare providers. Sixteen healthcare…”
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Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience by Manno, Gabrielle C, Segal, Gabrielle S, Yu, Alexander, Xu, Fangling, Ray, Joseph W, Cooney, Erin, Britt, Allison D, Jain, Sunil K, Goldblum, Randall M, Robinson, Sally S, Dong, Jianli

“…Patients with chromosome 22q11.2 deletion syndromes classically present with variable cardiac defects, parathyroid and thyroid gland hypoplasia,…”
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Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols by DeBarber, Andrea E., Schaefer, Ernst J., Do, Jenny, Ray, Joseph W, Larson, Austin, Redder, Samantha, Fowler, Maya, Duell, P. Barton

“…•We report three genetically confirmed atypical CTX cases with normal cholestanol.•All three CTX cases presented clinically with large extensor tendon…”
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Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience by Yu, Alexander, Turbiville, Donald, Xu, Fangling, Ray, Joseph W., Britt, Allison D., Lupo, Pamela J., Jain, Sunil K., Shattuck, Karen E., Robinson, Sally S., Dong, Jianli

“…Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial…”
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Birth defect co-occurrence patterns in the Texas Birth Defects Registry by Benjamin, Renata H., Scheuerle, Angela E., Scott, Daryl A., Navarro Sanchez, Maria Luisa, Langlois, Peter H., Canfield, Mark A., Northrup, Hope, Schaaf, Christian P., Ray, Joseph W., McLean, Scott D., Chen, Han, Swartz, Michael D., Lupo, Philip J., Agopian, A. J.

“…Background The population-level landscape of co-occurring birth defects among infants without a syndromic diagnosis is not well understood. Methods We analyzed…”
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A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotype by Wagner, Victoria F., Hillman, Paul R., Britt, Allison D., Ray, Joseph W., Farach, Laura S.

“…Cornelia de Lange syndrome (CdLS) is an autosomal dominant genetic disorder caused by pathogenic variants in NIPBL, RAD21, SMC3, HDAC8, or SMC1A; all of which…”
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Patterns of co‐occurring birth defects in children with anotia and microtia by Schraw, Jeremy M., Benjamin, Renata H., Shumate, Charles J., Canfield, Mark A., Scott, Daryl A., McLean, Scott D., Northrup, Hope, Scheuerle, Angela E., Schaaf, Christian P., Ray, Joseph W., Chen, Han, Agopian, A. J., Lupo, Philip J.

“…Many infants with anotia or microtia (A/M) have co‐occurring birth defects, although few receive syndromic diagnoses in the perinatal period. Evaluation of…”
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Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate by Sanchez, Maria Luisa Navarro, Benjamin, Renata H., Mitchell, Laura E., Langlois, Peter H., Canfield, Mark A., Swartz, Michael D., Scheuerle, Angela E., Scott, Daryl A., Northrup, Hope, Schaaf, Christian P., Ray, Joseph W., McLean, Scott D., Chen, Han, Lupo, Philip J., Agopian, A.J.

“…Objective: To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry. Design: We used data…”
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Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele by Oluwafemi, Omobola O., Benjamin, Renata H., Navarro Sanchez, Maria Luisa, Scheuerle, Angela E., Schaaf, Christian P., Mitchell, Laura E., Langlois, Peter H., Canfield, Mark A., Swartz, Michael D., Scott, Daryl A., Northrup, Hope, Ray, Joseph W., McLean, Scott D., Ludorf, Katherine L., Chen, Han, Lupo, Philip J., Agopian, A.J.

“…Gastroschisis and omphalocele are the two most common abdominal wall birth defects, and epidemiologic characteristics and frequency of occurrence as part of a…”
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Patterns of congenital anomalies among individuals with trisomy 13 in Texas by Diaz, Diego, Benjamin, Renata H., Navarro Sanchez, Maria Luisa, Mitchell, Laura E., Langlois, Peter H., Canfield, Mark A., Chen, Han, Scheuerle, Angela E., Schaaf, Christian P., Scott, Daryl A., Northrup, Hope, Ray, Joseph W., McLean, Scott D., Swartz, Michael D., Ludorf, Katherine L., Lupo, Philip J., Agopian, A. J.

“…Few population‐based studies have analyzed patterns of co‐occurring birth defects among those with trisomy 13. We evaluated the frequency of all possible…”
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A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia by Schraw, Jeremy M., Benjamin, Renata H., Scott, Daryl A., Brooks, Brian P., Hufnagel, Robert B., McLean, Scott D., Northrup, Hope, Langlois, Peter H., Canfield, Mark A., Scheuerle, Angela E., Schaaf, Christian P., Ray, Joseph W., Chen, Han, Swartz, Michael D., Mitchell, Laura E., Agopian, A.J., Lupo, Philip J.

“…Infants with anophthalmia or microphthalmia frequently have co-occurring birth defects. Nonetheless, there have been few investigations of birth defect…”
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Corrigendum to “Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1–64.e8] by Ludorf, Katherine L., Benjamin, Renata H., Navarro Sanchez, Maria Luisa, McLean, Scott D., Northrup, Hope, Mitchell, Laura E., Langlois, Peter H., Canfield, Mark A., Scheuerle, Angela E., Scott, Daryl A., Schaaf, Christian P., Ray, Joseph W., Oluwafemi, Omobola, Chen, Han, Swartz, Michael D., Lupo, Philip J., Agopian, A.J.

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Patterns of co-occurring birth defects among infants with hypospadias by Ludorf, Katherine L., Benjamin, Renata H., Navarro Sanchez, Maria Luisa, McLean, Scott D., Northrup, Hope, Mitchell, Laura E., Langlois, Peter H., Canfield, Mark A., Scheuerle, Angela E., Scott, Daryl A., Schaaf, Christian P., Ray, Joseph W., Oluwafemi, Omobola, Chen, Han, Swartz, Michael D., Lupo, Philip J., Agopian, A.J.

“…Hypospadias, one of the most common male genital birth defects, occurs in 1 out of every 200 male births in the United States and is increasing in prevalence…”
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Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution by Chu, Caleb, Wu, Haotian, Xu, Fangling, Ray, Joseph W, Britt, Allison, Robinson, Sally S, Lupo, Pamela J, Murphy, Christine R C, Dreyer, Charles F, Lee, Phillip D K, Hu, Peter C, Dong, Jianli

“…Abstract Chromosome 16p11.2 is one of the susceptible sites for recurrent copy number variations (CNVs) due to flanking near-identical segmental duplications…”
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Co‐occurring defect analysis: A platform for analyzing birth defect co‐occurrence in registries by Benjamin, Renata H., Yu, Xiao, Navarro Sanchez, Maria Luisa, Chen, Han, Mitchell, Laura E., Langlois, Peter H., Canfield, Mark A., Swartz, Michael D., Scheuerle, Angela E., Scott, Daryl A., Northrup, Hope, Schaaf, Christian P., Ray, Joseph W., McLean, Scott D., Lupo, Philip J., Agopian, A. J.

“…Background Few studies have systematically evaluated birth defect co‐occurrence patterns, perhaps, in part, due to the lack of software designed to implement…”
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Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa by Friedman, James S., Ray, Joseph W., Waseem, Naushin, Johnson, Kory, Brooks, Matthew J., Hugosson, Therése, Breuer, Debra, Branham, Kari E., Krauth, Daniel S., Bowne, Sara J., Sullivan, Lori S., Ponjavic, Vesna, Gränse, Lotta, Khanna, Ritu, Trager, Edward H., Gieser, Linn M., Hughbanks-Wheaton, Dianna, Cojocaru, Radu I., Ghiasvand, Noor M., Chakarova, Christina F., Abrahamson, Magnus, Göring, Harald H.H., Webster, Andrew R., Birch, David G., Abecasis, Goncalo R., Fann, Yang, Bhattacharya, Shomi S., Daiger, Stephen P., Heckenlively, John R., Andréasson, Sten, Swaroop, Anand

“…Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod…”
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Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7 by Wen, Yuquan, Locke, Kirsten G, Klein, Martin, Bowne, Sara J, Sullivan, Lori S, Ray, Joseph W, Daiger, Stephen P, Birch, David G, Hughbanks-Wheaton, Dianna K

“…To characterize the visual phenotype caused by mutations in the BTB-Kelch protein, KLHL7, responsible for the RP42 form of autosomal dominant retinitis…”
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Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome by Zarate, Yuri A., Smith‐Hicks, Constance L., Greene, Carol, Abbott, Mary‐Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katherine, Kalsner, Louisa, Basinger, Alice, Slavotinek, Anne M., Perry, Hazel, Saenz, Margarita, Szybowska, Marta, Wilson, Louise C., Kumar, Ajith, Brain, Caroline, Balasubramanian, Meena, Dubbs, Holly, Ortiz‐Gonzalez, Xilma R., Zackai, Elaine, Stein, Quinn, Powell, Cynthia M., Schrier Vergano, Samantha, Britt, Allison, Sun, Angela, Smith, Wendy, Bebin, E. Martina, Picker, Jonathan, Kirby, Amelia, Pinz, Hailey, Bombei, Hannah, Mahida, Sonal, Cohen, Julie S., Fatemi, Ali, Vernon, Hilary J., McClellan, Rebecca, Fleming, Leah R., Knyszek, Brittney, Steinraths, Michelle, Velasco Gonzalez, Cruz, Beck, Anita E., Golden‐Grant, Katie L., Egense, Alena, Parikh, Aditi, Raimondi, Chantalle, Angle, Brad, Allen, William, Schott, Suzanna, Algrabli, Adi, Robin, Nathaniel H., Ray, Joseph W., Everman, David B., Gambello, Michael J., Chung, Wendy K.

“…SATB2‐associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech,…”
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Cover Image, Volume 176A, Number 4, April 2018 by Zarate, Yuri A., Smith‐Hicks, Constance L., Greene, Carol, Abbott, Mary‐Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katherine, Kalsner, Louisa, Basinger, Alice, Slavotinek, Anne M., Perry, Hazel, Saenz, Margarita, Szybowska, Marta, Wilson, Louise C., Kumar, Ajith, Brain, Caroline, Balasubramanian, Meena, Dubbs, Holly, Ortiz‐Gonzalez, Xilma R., Zackai, Elaine, Stein, Quinn, Powell, Cynthia M., Schrier Vergano, Samantha, Britt, Allison, Sun, Angela, Smith, Wendy, Bebin, E. Martina, Picker, Jonathan, Kirby, Amelia, Pinz, Hailey, Bombei, Hannah, Mahida, Sonal, Cohen, Julie S., Fatemi, Ali, Vernon, Hilary J., McClellan, Rebecca, Fleming, Leah R., Knyszek, Brittney, Steinraths, Michelle, Velasco Gonzalez, Cruz, Beck, Anita E., Golden‐Grant, Katie L., Egense, Alena, Parikh, Aditi, Raimondi, Chantalle, Angle, Brad, Allen, William, Schott, Suzanna, Algrabli, Adi, Robin, Nathaniel H., Ray, Joseph W., Everman, David B., Gambello, Michael J., Chung, Wendy K.

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