Search Results - "McPherson, Elizabeth W."

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis by Martignetti, John A., Tian, Lifeng, Li, Dong, Ramirez, Maria Celeste M., Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Guo, Yiran, Zand, Dina J., Bernstein, Audrey M., Masur, Sandra K., Kim, Cecilia E., Otieno, Frederick G., Hou, Cuiping, Abdel-Magid, Nada, Tweddale, Ben, Metry, Denise, Fournet, Jean-Christophe, Papp, Eniko, McPherson, Elizabeth W., Zabel, Carrie, Vaksmann, Guy, Morisot, Cyril, Keating, Brendan, Sleiman, Patrick M., Cleveland, Jeffrey A., Everman, David B., Zackai, Elaine, Hakonarson, Hakon

“…Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle,…”
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Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records by He, Karen Y, Zhao, Yiqing, McPherson, Elizabeth W, Li, Quan, Xia, Fan, Weng, Chunhua, Wang, Kai, He, Max M

“…It is unclear whether and how whole-genome sequencing (WGS) data can be used to implement genomic medicine. Our objective is to retrospectively evaluate…”
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3137 fetuses in 33 years: What we have learned from the Wisconsin stillbirth service program by McPherson, Elizabeth W.

“…The Wisconsin Stillbirth Service Program (WiSSP) provided expert review by a dysmorphologist for community‐acquired data on 3137 fetal deaths between 1983 and…”
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Intestinal Ganglioneuromatosis: Unusual Presentation of Cowden Syndrome Resulting in Delayed Diagnosis by Vinitsky, Anna, Zaleski, Christina A., Sajjad, Sayed M., McPherson, Elizabeth W.

“…We report on a 25‐year‐old woman who presented as a teenager with macrocephaly and multiple gastrointestinal lesions including ganglioneuromas, hamartomas,…”
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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes by ROSENFELD, Jill A, TRAYLOR, Ryan N, BRADLEY SCHAEFER, G, MCPHERSON, Elizabeth W, BALLIF, Blake C, KLOPOCKI, Eva, MUNDLOS, Stefan, SHAFFER, Lisa G, AYLSWORTH, Arthur S

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Patient and Family Experiences and Opinions on Adding 22q11 Deletion Syndrome to the Newborn Screen by Bales, Abigail M., Zaleski, Christina A., McPherson, Elizabeth W.

“…22q11 deletion syndrome (22qDS) has recently been proposed for addition to the newborn screening panel in Wisconsin and it seems likely that it may soon be…”
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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes by Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S

“…Chromosomal band 1q21.1 can be divided into two distinct regions, proximal and distal, based on segmental duplications that mediate recurrent rearrangements…”
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SeqHBase: a big data toolset for family based sequencing data analysis by He, Min, Person, Thomas N, Hebbring, Scott J, Heinzen, Ethan, Ye, Zhan, Schrodi, Steven J, McPherson, Elizabeth W, Lin, Simon M, Peissig, Peggy L, Brilliant, Murray H, O'Rawe, Jason, Robison, Reid J, Lyon, Gholson J, Wang, Kai

“…Whole-genome sequencing (WGS) and whole-exome sequencing (WES) technologies are increasingly used to identify disease-contributing mutations in human genomic…”
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Newborn screening programs: Should 22q11 deletion syndrome be added? by Bales, Abigail M., Zaleski, Christina A., McPherson, Elizabeth W.

“…The highly variable 22q11 deletion syndrome has been proposed for addition to newborn screening panels. A literature review investigated the incidence and…”
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Variable outcomes in mosaic trisomy 16: five case reports and literature analysis by Neiswanger, Katherine, Hohler, Paul M., Hively-Thomas, Lori B., McPherson, Elizabeth W., Hogge, W. Allen, Surti, Urvashi

“…Objectives To report five cases of mosaic trisomy 16 with variable outcomes in the context of the literature on mosaic trisomy 16. Complications in these cases…”
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3137 fetuses in 33years: What we have learned from the Wisconsin stillbirth service program by McPherson, Elizabeth W

“…The Wisconsin Stillbirth Service Program (WiSSP) provided expert review by a dysmorphologist for community‐acquired data on 3137 fetal deaths between 1983 and…”
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Janiceps Conjoined Twins with Extreme Asymmetry: Case Report with Complete Autopsy and Histopathologic Findings by Kastenbaum, Hannah A., McPherson, Elizabeth W., Murdoch, Geoffrey H., Ozolek, John A.

“…Conjoined twinning is a rare form of twinning, in which 2 bodies are attached, and is classified according to the anatomic place of attachment. An extremely…”
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A novel gene mutation in an infant with cranial dysmorphology and orbital-maxillary hypoplasia by Ciuci, Paul M, Costello, Bernard J, McPherson, Elizabeth W

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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay by Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.

“…Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-dominant condition caused by mutations in MYH3 and characterized by multiple…”
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Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality by Wenger, Sharon L, McPherson, Elizabeth W.

“…We report on an infant with a karyotype of 46,XY,del(2) (p11.2p13), the fourth reported case in the literature. At birth, the child had eventration of the…”
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X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression by McPherson, E W, Clemens, M M, Gibbons, R J, Higgs, D R

“…We report a new kindred containing 4 patients with X-linked alpha-thalassemia/mental retardation syndrome ((ATR-X). Like previously reported ATR-X patients,…”
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Interstitial deletion 2(p11.2p13): a rare chromosomal abnormality by Wenger, Sharon L, McPherson, Elizabeth W.

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Apparently balanced t(1;7)(q21.3;q34) in an infant with Coffin-Siris syndrome by McPherson, Elizabeth W., Laneri, Giovanni, Clemens, Michele M., Kochmar, Sally J., Surti, Urvashi

“…Coffin‐Siris syndrome is a multiple anomaly/mental retardation syndrome characterized by “coarse” facial appearance, hypoplastic or absent nails on the fifth…”
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Pallister-Killian and Fryns syndromes: nosology by McPherson, E W, Ketterer, D M, Salsburey, D J

“…Fryns syndrome is a lethal autosomal recessive multiple congenital anomaly syndrome characteristic "coarse" facies, cleft palate, diaphragmatic hernia, and…”
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