Calculating the fetal fraction for noninvasive prenatal testing based on genome‐wide nucleosome profiles

por Straver, Roy, Oudejans, Cees B. M., Sistermans, Erik A., Reinders, Marcel J. T.
Publicado en Prenat Diagn (2016)

WISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data

por Straver, Roy, Weiss, Marjan M., Waisfisz, Quinten, Sistermans, Erik A., Reinders, Marcel J. T.
Publicado en Eur J Hum Genet (2017)

WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme

por Straver, Roy, Sistermans, Erik A., Holstege, Henne, Visser, Allerdien, Oudejans, Cees B. M., Reinders, Marcel J. T.
Publicado 2014

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

por van Dijk, Fleur S, Byers, Peter H, Dalgleish, Raymond, Malfait, Fransiska, Maugeri, Alessandra, Rohrbach, Marianne, Symoens, Sofie, Sistermans, Erik A, Pals, Gerard
Publicado 2012

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

por Isrie, Mala, Hendriks, Yvonne, Gielissen, Nicole, Sistermans, Erik A, Willemsen, Marjolein H, Peeters, Hilde, Vermeesch, Joris R, Kleefstra, Tjitske, Van Esch, Hilde
Publicado 2012

Recommended practice for laboratory reporting of non‐invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion

por Deans, Zandra C., Allen, Stephanie, Jenkins, Lucy, Khawaja, Farrah, Hastings, Ros J., Mann, Kathy, Patton, Simon J., Sistermans, Erik A., Chitty, Lyn S.
Publicado en Prenat Diagn (2017)

Noncoding RNA-regulated gain-of-function of STOX2 in Finnish pre-eclamptic families

por Oudejans, Cees BM, Poutsma, Ankie, Michel, Omar J., Thulluru, Hari K., Mulders, Joyce, van de Vrugt, Henri J., Sistermans, Erik A., van Dijk, Marie
Publicado en Sci Rep (2016)

Fetal fraction evaluation in non-invasive prenatal screening (NIPS)

por Hestand, Matthew S., Bessem, Mark, van Rijn, Peter, de Menezes, Renee X., Sie, Daoud, Bakker, Ingrid, Boon, Elles M. J., Sistermans, Erik A., Weiss, Marjan M.
Publicado en Eur J Hum Genet (2018)

Comparing methods for fetal fraction determination and quality control of NIPT samples

por van Beek, Daphne M., Straver, Roy, Weiss, Marian M., Boon, Elles M. J., Huijsdens‐van Amsterdam, Karin, Oudejans, Cees B. M., Reinders, Marcel J. T., Sistermans, Erik A.
Publicado en Prenat Diagn (2017)

Response to letter to the editor PD‐17‐0390, a comment on “Comparing methods for fetal fraction determination and quality control of NIPT samples”

por van Beek, Daphne M., Straver, Roy, Weiss, Marjan M., Boon, Elles M.J., Huijsdens‐van Amsterdam, Karin, Oudejans, Cees B.M., Reinders, Marcel J.T., Sistermans, Erik A.
Publicado en Prenat Diagn (2017)

Imprinting Effect in Premature Ovarian Failure Confined to Paternally Inherited Fragile X Premutations

por Hundscheid, Rubin D. L., Sistermans, Erik A., Thomas, Chris M. G., Braat, Didi D. M., Straatman, Huub, Kiemeney, Lambertus A. L. M., Oostra, Ben A., Smits, Arie P. T.
Publicado 2000

Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing

por Ameziane, Najim, Sie, Daoud, Dentro, Stefan, Ariyurek, Yavuz, Kerkhoven, Lianne, Joenje, Hans, Dorsman, Josephine C., Ylstra, Bauke, Gille, Johan J. P., Sistermans, Erik A., de Winter, Johan P.
Publicado 2012

Guidelines for diagnostic next-generation sequencing

por Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Publicado en Eur J Hum Genet (2016)

Guidelines for diagnostic next-generation sequencing

por Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter
Publicado en Eur J Hum Genet (2016)

A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay

por Ozantürk, Ayşegül, Davis, Erica E., Sabo, Aniko, Weiss, Marjan M., Muzny, Donna, Dugan-Perez, Shannon, Sistermans, Erik A., Gibbs, Richard A., Özgül, Köksal R., Yalnızoglu, Dilek, Serdaroglu, Esra, Dursun, Ali, Katsanis, Nicholas
Publicado en Cold Spring Harb Mol Case Stud (2016)

A novel CCM2 variant in a family with non‐progressive cognitive complaints and cerebral microbleeds

por Cohn‐Hokke, Petra E., Holstege, Henne, Weiss, Marjan M., van der Flier, Wiesje M., Barkhof, Frederik, Sistermans, Erik A., Pijnenburg, Yolande A. L., van Swieten, John C., Meijers‐Heijboer, Hanne, Scheltens, Philip
Publicado en Am J Med Genet B Neuropsychiatr Genet (2016)

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

por Beunders, Gea, de Munnik, Sonja A, Van der Aa, Nathalie, Ceulemans, Berten, Voorhoeve, Els, Groffen, Alexander J, Nillesen, Willy M, Meijers-Heijboer, Elizabeth J, Frank Kooy, R, Yntema, Helger G, Sistermans, Erik A
Publicado en Eur J Hum Genet (2015)

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

por Huijsdens-van Amsterdam, Karin, Page-Christiaens, Lieve, Flowers, Nicola, Bonifacio, Michael D, Ellis, Katie M Battese, Vogel, Ida, Vestergaard, Else Marie, Miguelez, Javier, de Carvalho, Mario Henrique Burlacchini, Sistermans, Erik A, Pertile, Mark D
Publicado en Eur J Hum Genet (2018)

The bivariate NRIP1/ZEB2 RNA marker permits non-invasive presymptomatic screening of pre-eclampsia

por Manders, Vera, Visser, Allerdien, Keijser, Remco, Min, Naomi, Poutsma, Ankie, Mulders, Joyce, van den Berkmortel, Tarah, Hortensius, Marjolein, Jongejan, Aldo, Pajkrt, Eva, Sistermans, Erik A., Sie, Daoud, Best, Myron G., Würdinger, Tom, de Boer, Marjon, Afink, Gijs, Oudejans, Cees
Publicado en Sci Rep (2020)

Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination

por Woodward, Karen J., Cundall, Maria, Sperle, Karen, Sistermans, Erik A., Ross, Mark, Howell, Gareth, Gribble, Susan M., Burford, Deborah C., Carter, Nigel P., Hobson, Donald L., Garbern, James Y., Kamholz, John, Heng, Henry, Hodes, M. E., Malcolm, Sue, Hobson, Grace M.
Publicado 2005