Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Richards, Sue, Aziz, Nazneen, Bale, Sherri, Bick, David, Das, Soma, Gastier-Foster, Julie, Grody, Wayne W., Hegde, Madhuri, Lyon, Elaine, Spector, Elaine, Voelkerding, Karl, Rehm, Heidi L.
Published in Genetics in medicine (01.05.2015)
Published in Genetics in medicine (01.05.2015)
Get full text
Journal Article
Conference Proceeding
Venous thromboembolism laboratory testing (factor V Leiden andfactor II c.97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Zhang, Shulin, Taylor, Annette K., Huang, Xuan, Luo, Biao, Spector, Elaine B., Fang, Ping, Richards, C. Sue
Published in Genetics in medicine (01.12.2018)
Published in Genetics in medicine (01.12.2018)
Get full text
Journal Article
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly
Friederich, Marisa W, Erdogan, Alican J, Coughlin, 2nd, Curtis R, Elos, Mihret T, Jiang, Hua, O'Rourke, Courtney P, Lovell, Mark A, Wartchow, Eric, Gowan, Katherine, Chatfield, Kathryn C, Chick, Wallace S, Spector, Elaine B, Van Hove, Johan L K, Riemer, Jan
Published in Human molecular genetics (15.02.2017)
Published in Human molecular genetics (15.02.2017)
Get full text
Journal Article
Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
Bjoraker, Kendra J., PhD, Swanson, Michael A., PhD, Coughlin, Curtis R., MS, MBe, Christodoulou, John, MB, BS, PhD, Tan, Ee S., MB, BS, Fergeson, Mark, MD, Dyack, Sarah, MD, Ahmad, Ayesha, MD, Friederich, Marisa W., PhD, Spector, Elaine B., PhD, Creadon-Swindell, Geralyn, BS, Hodge, M. Antoinette, DPsych, Gaughan, Sommer, RD, Burns, Casey, RD, Van Hove, Johan L.K., MD, PhD
Published in The Journal of pediatrics (01.03.2016)
Published in The Journal of pediatrics (01.03.2016)
Get full text
Journal Article
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
Arribas-Carreira, Laura, Dallabona, Cristina, Swanson, Michael A, Farris, Joseph, Østergaard, Elsebet, Tsiakas, Konstantinos, Hempel, Maja, Aquaviva-Bourdain, Cecile, Koutsoukos, Stefanos, Stence, Nicholas V, Magistrati, Martina, Spector, Elaine B, Kronquist, Kathryn, Christensen, Mette, Karstensen, Helena G, Feichtinger, René G, Achleitner, Melanie T, Lawrence Merritt II, J, Pérez, Belén, Ugarte, Magdalena, Grünewald, Stephanie, Riela, Anthony R, Julve, Natalia, Arnoux, Jean-Baptiste, Haldar, Kasturi, Donnini, Claudia, Santer, René, Lund, Allan M, Mayr, Johannes A, Rodriguez-Pombo, Pilar, Van Hove, Johan L K
Published in Human molecular genetics (06.03.2023)
Published in Human molecular genetics (06.03.2023)
Get full text
Journal Article
An LMNA synonymous variant associated with severe dilated cardiomyopathy: Case report
Gao, Shanshan, Mumme‐Monheit, Abigail, Chen, Suet Nee, Spector, Elaine B., Slavov, Dobromir, Baralle, Francisco E., Bristow, Michael R., Mestroni, Luisa, Taylor, Matthew R. G.
Published in American journal of medical genetics. Part A (01.02.2022)
Published in American journal of medical genetics. Part A (01.02.2022)
Get full text
Journal Article
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation
Couser, Natario L., Pande, Chetna K., Turcott, Christie M., Spector, Elaine B., Aylsworth, Arthur S., Powell, Cynthia M.
Published in American journal of medical genetics. Part A (01.04.2017)
Published in American journal of medical genetics. Part A (01.04.2017)
Get full text
Journal Article
P007: PP4 criteria specifications for proximal urea cycle disorders
Simpson, Kara, Mew, Nicholas Ah, Caldovic, Ljubica, Feigenbaum, Annette, Fernandez, Raquel, Groopman, Emily, Gropman, Andrea, Kudalkar, Emily, Lichter-Konecki, Uta, Kyriss, McKenna, Spector, Elaine, Weaver, Meredith, Warrier, Manya, Zastrow, Diane, Thomas-Wilson, Amanda
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
P687: Variant classification discrepancies in the ACADVL gene
Dickson, Alexa, Flowers, May, Miller, Marcus, Spector, Elaine, Enns, Gregory, Baudet, Heather, Pasquali, Marzia, Racacho, Lemuel, Sadre-Bazzaz, Kianoush, Wen, Ting, Fogarty, Melissa, Fernandez, Raquel, Weaver, Meredith, Feigenbaum, Annette, Graham, Brett, Mao, Rong
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial
Van Hove, Johan L. K., Freehauf, Cynthia L., Ficicioglu, Can, Pena, Loren D. M., Moreau, Kerrie L., Henthorn, Thomas K., Christians, Uwe, Jiang, Hua, Cowan, Tina M., Young, Sarah P., Hite, Michelle, Friederich, Marisa W., Stabler, Sally P., Spector, Elaine B., Kronquist, Kathryn E., Thomas, Janet A., Emmett, Peggy, Harrington, Mary J., Pyle, Laura, Creadon‐Swindell, Geralyn, Wempe, Michael F., MacLean, Kenneth N.
Published in Journal of inherited metabolic disease (01.05.2019)
Published in Journal of inherited metabolic disease (01.05.2019)
Get full text
Journal Article
Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series
Debrey, Sarah M., Leehey, Maureen A., Klepitskaya, Olga, Filley, Christopher M., Shah, Raj C., Kluger, Benzi, Berry-Kravis, Elizabeth, Spector, Elaine, Tassone, Flora, Hall, Deborah A.
Published in Cerebellum (London, England) (01.10.2016)
Published in Cerebellum (London, England) (01.10.2016)
Get full text
Journal Article
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
Putcha, Girish V, Bejjani, Bassem A, Bleoo, Stacey, Booker, Jessica K, Carey, John C, Carson, Nancy, Das, Soma, Dempsey, Melissa A, Gastier-Foster, Julie M, Greinwald, Jr, John H, Hoffmann, Marcy L, Jeng, Linda Jo Bone, Kenna, Margaret A, Khababa, Ishrag, Lilley, Margaret, Mao, Rong, Muralidharan, Kasinathan, Otani, Iris M, Rehm, Heidi L, Schaefer, Fred, Seltzer, William K, Spector, Elaine B, Springer, Michelle A, Weck, Karen E, Wenstrup, Richard J, Withrow, Stacey, Wu, Bai-Lin, Zariwala, Maimoona A, Schrijver, Iris
Published in Genetics in medicine (01.07.2007)
Published in Genetics in medicine (01.07.2007)
Get full text
Journal Article
Technical Standards and Guidelines for Huntington Disease Testing
Potter, Nicholas T., Spector, Elaine B., Prior, Thomas W.
Published in Genetics in medicine (01.01.2004)
Published in Genetics in medicine (01.01.2004)
Get full text
Journal Article
Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency
Pollard, Laura M, Williams, Nolan R, Espinoza, Lesby, Wood, Tim C, Spector, Elaine B, Schroer, Richard J, Holden, Kenton R
Published in Journal of child neurology (01.08.2010)
Published in Journal of child neurology (01.08.2010)
Get more information
Journal Article
Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype
Bellus, Gary A., Spector, Elaine B., Speiser, Phyllis W., Weaver, Christine A., Garber, Anthony T., Bryke, Christine R., Israel, Jamie, Rosengren, Sally S., Webster, Melanie K., Donoghue, Daniel J., Francomano, Clair A.
Published in American journal of human genetics (01.12.2000)
Published in American journal of human genetics (01.12.2000)
Get full text
Journal Article
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome
Chiang, Pei-Wen, Lee, Ni-Chung, Chien, Nancy, Hwu, Wuh-Liang, Spector, Elaine, Tsai, Anne Chun-Hui
Published in American journal of medical genetics. Part A (01.07.2009)
Published in American journal of medical genetics. Part A (01.07.2009)
Get full text
Journal Article