Clinical and Genetic Characteristics of Late-onset Stargardt's Disease
Westeneng-van Haaften, Sarah C., MD, Boon, Camiel J.F., MD, PhD, Cremers, Frans P.M., PhD, Hoefsloot, Lies H., PhD, den Hollander, Anneke I., PhD, Hoyng, Carel B., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.06.2012)
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Published in Human mutation (01.08.2012)
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Whole exome sequencing of known eye genes reveals genetic causes for high myopia
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Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
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Published in Nature genetics (01.01.2011)
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Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Bicknell, Louise S, Bongers, Ernie M H F, Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E, Aftimos, Salim, Al-Aama, Jumana Y, Bober, Michael, Brown, Paul A J, van Bokhoven, Hans, Dean, John, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H, Kau, Nikolaus, Knoers, Nine V A M, MacKenzie, James, Opitz, John M, Sarda, Pierre, Ross, Alison, Temple, I Karen, Toutain, Annick, Wise, Carol A, Wright, Michael, Jackson, Andrew P
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De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome
Simpson, Michael A., Deshpande, Charu, Dafou, Dimitra, Vissers, Lisenka E.L.M., Woollard, Wesley J., Holder, Susan E., Gillessen-Kaesbach, Gabriele, Derks, Ronny, White, Susan M., Cohen-Snuijf, Ruthy, Kant, Sarina G., Hoefsloot, Lies H., Reardon, Willie, Brunner, Han G., Bongers, Ernie M.H.F., Trembath, Richard C.
Published in American journal of human genetics (10.02.2012)
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Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
SCHRADERS, Margit, RUIZ-PALMERO, Laura, OONK, Anne M. M, KUNST, Henricus P. M, DOMINGUEZ-RUIZ, Maria, GARCIA-ARUMI, Ana M, DEL CAMPO, Miguel, VILLAMAR, Manuela, HOEFSLOOT, Lies H, MORENO, Felipe, ADMIRAAL, Ronald J. C, DEL CASTILLO, Ignacio, KALAY, Ersan, KREMER, Hannie, OOSTRIK, Jaap, DEL CASTILLO, Francisco J, SEZGIN, Orhan, BEYNON, Andy J, STROM, Tim M, PENNINGS, Ronald J. E, CELIA ZAZO SECO
Published in American journal of human genetics (02.11.2012)
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Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie
Published in American journal of human genetics (13.05.2011)
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Mutations in the Mevalonate Kinase ( MVK ) Gene Cause Nonsyndromic Retinitis Pigmentosa
Siemiatkowska, Anna M., PhD, van den Born, L. Ingeborgh, MD, PhD, van Hagen, P. Martin, MD, PhD, Stoffels, Monique, MSc, Neveling, Kornelia, PhD, Henkes, Arjen, BSc, Kipping-Geertsema, Mieke, BSc, Hoefsloot, Lies H., PhD, Hoyng, Carel B., MD, PhD, Simon, Anna, MD, PhD, den Hollander, Anneke I., PhD, Cremers, Frans P.M., PhD, Collin, Rob W.J., PhD
Published in Ophthalmology (Rochester, Minn.) (01.12.2013)
Published in Ophthalmology (Rochester, Minn.) (01.12.2013)
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Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5
Seco, Celia Zazo, Oonk, Anne M M, Domínguez-Ruiz, María, Draaisma, Jos M T, Gandía, Marta, Oostrik, Jaap, Neveling, Kornelia, Kunst, Henricus P M, Hoefsloot, Lies H, del Castillo, Ignacio, Pennings, Ronald J E, Kremer, Hannie, Admiraal, Ronald J C, Schraders, Margit
Published in European journal of human genetics : EJHG (01.02.2015)
Published in European journal of human genetics : EJHG (01.02.2015)
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Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays
Labrijn-Marks, Ineke, Somers-Bolman, Galhana M, In 't Groen, Stijn L M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara Sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W, Hoefsloot, Lies H, Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J M, van der Ploeg, Ans T, Pijnappel, W W M Pim, Saris, Jasper J, Halley, Dicky J
Published in European journal of human genetics : EJHG (01.06.2019)
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L1 retrotransposition can occur early in human embryonic development
van den Hurk, José A.J.M., Meij, Iwan C., del Carmen Seleme, Maria, Kano, Hiroki, Nikopoulos, Konstantinos, Hoefsloot, Lies H., Sistermans, Erik A., de Wijs, Ilse J., Mukhopadhyay, Arijit, Plomp, Astrid S., de Jong, Paulus T.V.M., Kazazian, Haig H., Cremers, Frans P.M.
Published in Human molecular genetics (01.07.2007)
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What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?
van Zutven, Laura J. C. M, Mijalkovic, Jona, van Veghel-Plandsoen, Monique, Goense, Margaret, Polak, Marike, Knapen, Maarten F. C. M, de Weerd, Sabina, Joosten, Marieke, Diderich, Karin E. M, Hoefsloot, Lies H, Van Opstal, Diane, Srebniak, Malgorzata I
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Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing
Haarman, Annechien E.G., Klaver, Caroline C.W., Tedja, Milly S., Roosing, Susanne, Astuti, Galuh, Gilissen, Christian, Hoefsloot, Lies H., van Tienhoven, Marianne, Brands, Tom, Magielsen, Frank J., Eussen, Bert H.J.F.M.M., de Klein, Annelies, Brosens, Erwin, Verhoeven, Virginie J.M.
Published in Ophthalmology science (Online) (01.12.2023)
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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis
in ’t Groen, Stijn L.M., de Faria, Douglas O.S., Iuliano, Alessandro, van den Hout, Johanna M.P., Douben, Hannie, Dijkhuizen, Trijnie, Cassiman, David, Witters, Peter, Barba Romero, Miguel-Ángel, de Klein, Annelies, Somers-Bolman, Galhana M., Saris, Jasper J., Hoefsloot, Lies H., van der Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W.W.M. Pim
Published in Molecular therapy. Methods & clinical development (12.06.2020)
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Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment
Schraders, Margit, Lee, Kwanghyuk, Oostrik, Jaap, Huygen, Patrick L.M., Ali, Ghazanfar, Hoefsloot, Lies H., Veltman, Joris A., Cremers, Frans P.M., Basit, Sulman, Ansar, Muhammad, Cremers, Cor W.R.J., Kunst, Henricus P.M., Ahmad, Wasim, Admiraal, Ronald J.C., Leal, Suzanne M., Kremer, Hannie
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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TRPC6 single nucleotide polymorphisms and progression of idiopathic membranous nephropathy
Hofstra, Julia M, Coenen, Marieke J H, Schijvenaars, Mascha M V A P, Berden, Jo H M, van der Vlag, Johan, Hoefsloot, Lies H, Knoers, Nine V A M, Wetzels, Jack F M, Nijenhuis, Tom
Published in PloS one (14.07.2014)
Published in PloS one (14.07.2014)
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Social and medical need for whole genome high resolution NIPT
Srebniak, Malgorzata I., Knapen, Maarten F. C. M., Govaerts, Lutgarde C. P., Polak, Marike, Joosten, Marieke, Diderich, Karin E. M., van Zutven, Laura J. C. M., Prinsen, Krista A. K. E., Riedijk, Sam, Go, Attie T. J. I., Galjaard, Robert‐Jan H., Hoefsloot, Lies H., Van Opstal, Diane
Published in Molecular genetics & genomic medicine (01.01.2020)
Published in Molecular genetics & genomic medicine (01.01.2020)
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The Immune Phenotype of Patients with CHARGE Syndrome
Hsu, Peter, Ma, Alan, Barnes, Elizabeth H, Wilson, Meredith, Hoefsloot, Lies H, Rinne, Tuula, Munns, Craig, Williams, George, Wong, Melanie, Mehr, Sam
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.01.2016)
Published in The journal of allergy and clinical immunology in practice (Cambridge, MA) (01.01.2016)
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