Carrier screening in individuals of Ashkenazi Jewish descent

por Gross, Susan J., Pletcher, Beth A., Monaghan, Kristin G.
Publicado 2008

Points to Consider in the Reevaluation and Reanalysis of Genomic Test Results: A Statement of the American College of Medical Genetics and Genomics (ACMG)

por Deignan, Joshua L., Chung, Wendy K., Kearney, Hutton M., Monaghan, Kristin G., Rehder, Catherine W., Chao, Elizabeth C.
Publicado en Genet Med (2019)

CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature

por Hsu, Tina, Coughlin, Carrie C., Monaghan, Kristin G., Fiala, Elise, McKinstry, Robert C., Paciorkowski, Alex R., Shinawi, Marwan
Publicado en Child Neurol Open (2017)

Prostate cancer risk from occupational exposure to polycyclic aromatic hydrocarbons interacting with the GSTP1 Ile105Val polymorphism

por Rybicki, Benjamin A., Neslund-Dudas, Christine, Nock, Nora L., Schultz, Lonni R., Eklund, Ludmila, Rosbolt, James, Bock, Cathryn H., Monaghan, Kristin G.
Publicado 2006

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

por Deignan, Joshua L., Astbury, Caroline, Cutting, Garry R., del Gaudio, Daniela, Gregg, Anthony R., Grody, Wayne W., Monaghan, Kristin G., Richards, Sue
Publicado en Genet Med (2020)

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

por Pinz, Hailey, Pyle, Louise C., Li, Dong, Izumi, Kosuke, Skraban, Cara, Tarpinian, Jennifer, Braddock, Stephen R., Telegrafi, Aida, Monaghan, Kristin G., Zackai, Elaine, Bhoj, Elizabeth J.
Publicado en Am J Med Genet A (2018)

Associations between Smoking, Polymorphisms in Polycyclic Aromatic Hydrocarbon (PAH) Metabolism and Conjugation Genes and PAH-DNA Adducts in Prostate Tumors Differ by Race

por Nock, Nora L., Tang, Deliang, Rundle, Andrew, Neslund-Dudas, Christine, Savera, Adnan T., Bock, Cathryn H., Monaghan, Kristin G., Koprowski, Allison, Mitrache, Nicoleta, Yang, James J., Rybicki, Benjamin A.
Publicado 2007

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features

por Tanaka, Akemi J., Cho, Megan T., Retterer, Kyle, Jones, Julie R., Nowak, Catherine, Douglas, Jessica, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Schaefer, G. Bradley, Kaylor, Julie, Rahman, Omar A., Telegrafi, Aida, Friedman, Bethany, Douglas, Ganka, Monaghan, Kristin G., Chung, Wendy K.
Publicado en Cold Spring Harb Mol Case Stud (2016)

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

por Boyle, Lia, Wamelink, Mirjam M.C., Salomons, Gajja S., Roos, Birthe, Pop, Ana, Dauber, Andrew, Hwa, Vivian, Andrew, Melissa, Douglas, Jessica, Feingold, Murray, Kramer, Nancy, Saitta, Sulagna, Retterer, Kyle, Cho, Megan T., Begtrup, Amber, Monaghan, Kristin G., Wynn, Julia, Chung, Wendy K.
Publicado en Am J Hum Genet (2016)

Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females

por Bain, Jennifer M., Cho, Megan T., Telegrafi, Aida, Wilson, Ashley, Brooks, Susan, Botti, Christina, Gowans, Gordon, Autullo, Leigh Anne, Krishnamurthy, Vidya, Willing, Marcia C., Toler, Tomi L., Ben-Zev, Bruria, Elpeleg, Orly, Shen, Yufeng, Retterer, Kyle, Monaghan, Kristin G., Chung, Wendy K.
Publicado en Am J Hum Genet (2016)

De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia, and Autism

por Shang, Linshan, Henderson, Lindsay B., Cho, Megan T., Petrey, Donald S., Fong, Chin-To, Haude, Katrina M., Shur, Natasha, Lundberg, Julie, Hauser, Natalie, Carmichael, Jason, Innis, Jeffrey, Schuette, Jane, Wu, Yvonne W., Asaikar, Shailesh, Pearson, Margaret, Folk, Leandra, Retterer, Kyle, Monaghan, Kristin G., Chung, Wendy K.
Publicado en Neurogenetics (2015)

Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population

por Crawford, Dana C., Schwartz, Charles E., Meadows, Kellen L., Newman, James L., Taft, Lisa F., Gunter, Chris, Brown, W. Ted, Carpenter, Nancy J., Howard-Peebles, Patricia N., Monaghan, Kristin G., Nolin, Sarah L., Reiss, Allan L., Feldman, Gerald L., Rohlfs, Elizabeth M., Warren, Stephen T., Sherman, Stephanie L.
Publicado 2000

Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features

por Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L.I., Terhal, P.A., Verhoeven, Virginie J.M., van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., Chung, Wendy K.
Publicado en Neurogenetics (2016)

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

por Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.
Publicado en Cold Spring Harb Mol Case Stud (2015)

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

por Yap, Zheng Yie, Park, Yo Han, Wortmann, Saskia B., Gunning, Adam C., Ezer, Shlomit, Lee, Sukyeong, Duraine, Lita, Wilichowski, Ekkehard, Wilson, Kate, Mayr, Johannes A., Wagner, Matias, Li, Hong, Kini, Usha, Black, Emily Davis, Monaghan, Kristin G., Lupski, James R., Ellard, Sian, Westphal, Dominik S., Harel, Tamar, Yoon, Wan Hee
Publicado en Genome Med (2021)

Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing

por Barker, Shannon D., Bale, Sherri, Booker, Jessica, Buller, Arlene, Das, Soma, Friedman, Kenneth, Godwin, Andrew K., Grody, Wayne W., Highsmith, Edward, Kant, Jeffery A., Lyon, Elaine, Mao, Rong, Monaghan, Kristin G., Payne, Deborah A., Pratt, Victoria M., Schrijver, Iris, Shrimpton, Antony E., Spector, Elaine, Telatar, Milhan, Toji, Lorraine, Weck, Karen, Zehnbauer, Barbara, Kalman, Lisa V.
Publicado 2009

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment

por 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.
Publicado en Eur J Hum Genet (2019)

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

por Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez, Xilma, Mathews, Katherine, Panzer, Karin, Brilstra, Eva, van Gassen, Koen L.I., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Sobreira, Nara, Hamosh, Ada, McKnight, Dianalee, Monaghan, Kristin G., Chung, Wendy K.
Publicado en Am J Hum Genet (2015)

HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans

por Duijkers, Floor A., McDonald, Andrew, Janssens, Georges E., Lezzerini, Marco, Jongejan, Aldo, van Koningsbruggen, Silvana, Leeuwenburgh-Pronk, Wendela G., Wlodarski, Marcin W., Moutton, Sébastien, Tran-Mau-Them, Frédéric, Thauvin-Robinet, Christel, Faivre, Laurence, Monaghan, Kristin G., Smol, Thomas, Boute-Benejean, Odile, Ladda, Roger L., Sell, Susan L., Bruel, Ange-Line, Houtkooper, Riekelt H., MacInnes, Alyson W.
Publicado en Am J Hum Genet (2019)

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita

por Xue, Shifeng, Maluenda, Jérôme, Marguet, Florent, Shboul, Mohammad, Quevarec, Loïc, Bonnard, Carine, Ng, Alvin Yu Jin, Tohari, Sumanty, Tan, Thong Teck, Kong, Mung Kei, Monaghan, Kristin G., Cho, Megan T., Siskind, Carly E., Sampson, Jacinda B., Rocha, Carolina Tesi, Alkazaleh, Fawaz, Gonzales, Marie, Rigonnot, Luc, Whalen, Sandra, Gut, Marta, Gut, Ivo, Bucourt, Martine, Venkatesh, Byrappa, Laquerrière, Annie, Reversade, Bruno, Melki, Judith
Publicado en Am J Hum Genet (2017)