Utilization of echocardiography in Ehlers-Danlos syndrome
Rauser-Foltz, Kristina K, Starr, Lois J, Yetman, Anji T
Published in Congenital heart disease (01.09.2019)
Published in Congenital heart disease (01.09.2019)
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Journal Article
Myhre syndrome: Clinical features and restrictive cardiopulmonary complications
Starr, Lois J., Grange, Dorothy K., Delaney, Jeffrey W., Yetman, Anji T., Hammel, James M., Sanmann, Jennifer N., Perry, Deborah A., Schaefer, G. Bradley, Olney, Ann Haskins
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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Journal Article
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome
Lyon, Gholson J, Vedaie, Marall, Beisheim, Travis, Park, Agnes, Marchi, Elaine, Gottlieb, Leah, Hsieh, Tzung-Chien, Klinkhammer, Hannah, Sandomirsky, Katherine, Cheng, Hanyin, Starr, Lois J, Preddy, Isabelle, Tseng, Marcellus, Li, Quan, Hu, Yu, Wang, Kai, Carvalho, Ana, Martinez, Francisco, Caro-Llopis, Alfonso, Gavin, Maureen, Amble, Karen, Krawitz, Peter, Marmorstein, Ronen, Herr-Israel, Ellen
Published in European journal of human genetics : EJHG (01.07.2023)
Published in European journal of human genetics : EJHG (01.07.2023)
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Journal Article
The QT Interval in Patients With the Turner Syndrome
Harrahill, Noah J., Yetman, Anji T., Danford, David A., Starr, Lois J., Sanmann, Jennifer N., Robinson, Jeffrey A.
Published in The American journal of cardiology (01.02.2021)
Published in The American journal of cardiology (01.02.2021)
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Journal Article
Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss‐of‐function disorder, a SWI/SNF‐related intellectual disability
Khazanchi, Rohan, Ronspies, Carey A., Smith, Scott C., Starr, Lois J.
Published in American journal of medical genetics. Part A (01.05.2019)
Published in American journal of medical genetics. Part A (01.05.2019)
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Journal Article
Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response
Starr, Lois J, Lindsay, Mark E, Perry, Deborah, Gheewalla, Gregory, VanderLaan, Paul A, Majid, Adnan, Strange, Charlie, Costea, George-Claudiu, Lungu, Adrian, Lin, Angela E
Published in Pediatric and developmental pathology (01.11.2022)
Published in Pediatric and developmental pathology (01.11.2022)
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Journal Article
Gain‐of‐function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome
Lin, Angela E., Alali, Abdulrazak, Starr, Lois J., Shah, Nidhi, Beavis, Anna, Pereira, Elaine M., Lindsay, Mark E., Klugman, Susan
Published in American journal of medical genetics. Part A (01.02.2020)
Published in American journal of medical genetics. Part A (01.02.2020)
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Journal Article
Vascular dissection in women with Turner syndrome
Yetman, Anji T., Bisselou, Karl Stessy M., Sanmann, Jennifer N., Katz, Renee J., Steingraeber, Catherine J., Wilde, Megan, Murray, Mary, Starr, Lois J.
Published in International journal of cardiology (15.02.2021)
Published in International journal of cardiology (15.02.2021)
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Journal Article
Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy
Yetman, Anji T, Starr, Lois J, Bleyl, Steven B, Meyers, Lindsay, Delaney, Jeffrey W
Published in Pediatrics (Evanston) (01.07.2015)
Published in Pediatrics (Evanston) (01.07.2015)
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Journal Article
Eliciting Narratives to Inform Care for Infants With Trisomy 18
Weaver, Meaghann S, Starr, Lois J, Austin, Paige N, Stevenson, Christina L, Hammel, James M
Published in Pediatrics (Evanston) (01.10.2018)
Published in Pediatrics (Evanston) (01.10.2018)
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Journal Article
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
Palmer, Elizabeth E., Whitton, Chloe, Hashem, Mais O., Clark, Robin D., Ramanathan, Subhadra, Starr, Lois J., Velasco, Danita, De Dios, John Karl, Singh, Emily, Cormier‐Daire, Valerie, Chopra, Maya, Rodan, Lance H., Nellaker, Christoffer, Lakhani, Shenela, Mallack, Eric J., Panzer, Karin, Sidhu, Alpa, Wentzensen, Ingrid M., Lacombe, Didier, Michaud, Vincent, Alkuraya, Fowzan S.
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Journal Article
Kawasaki Disease in a Patient With Williams Syndrome
Nabower, Aleisha M, Starr, Lois J, Cramer, Jonathan
Published in World journal for pediatric & congenital heart surgery (01.07.2020)
Published in World journal for pediatric & congenital heart surgery (01.07.2020)
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Journal Article
First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa
Khazanchi, Rohan, Yetman, Anji T, Sanmann, Jennifer N, Starr, Lois J
Published in Clinical dysmorphology (01.07.2020)
Published in Clinical dysmorphology (01.07.2020)
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Journal Article
Autism spectrum disorder and genetic testing: Parental perceptions and decision‐making
Hanish, Alyson E., Cohen, Marlene Z., Starr, Lois J.
Published in Journal for specialists in pediatric nursing (01.04.2018)
Published in Journal for specialists in pediatric nursing (01.04.2018)
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Journal Article
Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray
Sanmann, Jennifer N, Pickering, Diane L, Golden, Denae M, Stevens, Jadd M, Hempel, Thomas E, Althof, Pamela A, Wiggins, Michele L, Starr, Lois J, Davé, Bhavana J, Sanger, Warren G
Published in Genetics in medicine (01.11.2015)
Published in Genetics in medicine (01.11.2015)
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Journal Article
Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses
Zarate, Yuri A., Bosanko, Katherine A., Bhoj, Elizabeth, Ganetzky, Rebecca, Starr, Lois J., Zackai, Elaine H., Schaefer, G. Bradley
Published in American journal of medical genetics. Part A (01.09.2015)
Published in American journal of medical genetics. Part A (01.09.2015)
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Journal Article