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X
Vissers, LELM
17  Ergebnisse:
Personensuche X
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1

A novel microdeletion, del(2)(q22.3q23.3) in a mentally ret..:

Koolen, DA ; Vissers, LELM ; Nillesen, W...
Clinical Genetics.  65 (2004)  5 - p. 429-432 , 2004
Link: https://doi.org/10.1111/..
 
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2

Correction: Mobile element insertions in rare diseases: a c..:

Wijngaard, R ; Demidov, G ; O'Gorman, L...
https://discovery.ucl.ac.uk/id/eprint/10182476/1/Hanna_Mobile%20element%20insertions%20in%20rare%20diseases-%20a%20comparative%20benchmark%20and%20reanalysis%20of%2060,000%20exome%20samples_correction_VoR.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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3

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, AS ; Bruel, AL ; Duffourd, Y...
https://discovery.ucl.ac.uk/id/eprint/10171065/1/Efthymiou_A%20Solve-RD%20ClinVar-based%20reanalysis%20of%201522%20index%20cases%20from%20ERN-ITHACA%20reveals%20common%20pitfalls%20and%20misinterpretations%20in%20exome%20sequencing_VoR.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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4

Mobile element insertions in rare diseases: a comparative b..:

Wijngaard, R ; Demidov, G ; O'Gorman, L...
https://discovery.ucl.ac.uk/id/eprint/10180214/1/s41431-023-01478-7.pdf.  , 2023
Link: https://discovery.ucl.ac..
 
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5

A de novo paradigm for male infertility:

Oud, MS ; Smits, RM ; Smith, HE...
issn:2041-1723.  , 2022
Link: http://hdl.handle.net/11..
 
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6

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, E ; Ockeloen, CW ; Kampen, RA...
https://openaccess.sgul.ac.uk/id/eprint/115087/1/1-s2.0-S1098360022008164-main.pdf.  , 2022
Link: https://openaccess.sgul...
 
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7

Solving patients with rare diseases through programmatic re..:

Matalonga, L ; Hernández-Ferrer, C ; Piscia, D...
https://discovery.ucl.ac.uk/id/eprint/10137219/1/s41431-021-00852-7.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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8

Solve-RD: systematic pan-European data sharing and collabor..:

Zurek, B ; Ellwanger, K ; Vissers, LELM...
https://discovery.ucl.ac.uk/id/eprint/10138615/1/s41431-021-00859-0.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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9

Exome sequencing reveals novel causes as well as new candid..:

Oud, MS ; Okutman, O ; Hendricks, LAJ...
issn:0268-1161.  , 2020
Link: http://hdl.handle.net/11..
 
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10

Rapid whole exome sequencing in pregnancies to identify the..:

Deden, C ; Neveling, K ; Zafeiropopoulou, D...
Deden , C , Neveling , K , Zafeiropopoulou , D , Gilissen , C , Pfundt , R , Rinne , T , de Leeuw , N , Faas , B , Gardeitchik , T , Sallevelt , SCEH , Paulussen , A , Stevens , SJC , Sikkel , E , Elting , MW , van Maarle , MC , Diderich , K , Corsten-Janssen , N , Lichtenbelt , KD , Lachmeijer , G , Vissers , LELM , Yntema , HG , Nelen , M , Feenstra , I & van Zelst-Stams , W A G 2020 , ' Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging ' , Prenatal Diagnosis , vol. 40 , no. 8 , pp. 972-983 . https://doi.org/10.1002/pd.5717.  , 2020
Link: https://pure.eur.nl/en/p..
 
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11

Rapid whole exome sequencing in pregnancies to identify the..:

Deden, C ; Neveling, K ; Zafeiropopoulou, D...
https://pure.eur.nl/en/publications/4ea4f045-1b3a-4bda-8423-78e47ffbcb62.  , 2020
Link: https://pure.eur.nl/en/p..
 
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12

Evidence for 28 genetic disorders discovered by combining h..:

Kaplanis, J ; Samocha, KE ; Wiel, L...
https://discovery.ucl.ac.uk/id/eprint/10133185/1/Ryten_797787v3.full.pdf.  , 2020
Link: https://discovery.ucl.ac..
 
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13

YY1 Haploinsufficiency Causes an Intellectual Disability Sy..:

Gabriele, M ; Vulto-van Silfhout, AT ; Germain, P-L...
issn:0002-9297.  , 2017
Link: http://hdl.handle.net/11..
 
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14

De Novo Truncating Mutations in the Last and Penultimate Ex..:

Jansen, S ; Geuer, S ; Pfundt, R...
https://radar.brookes.ac.uk/radar/items/620aa9f9-89d1-4d1d-bc93-d7981235ed1d/1/.  , 2017
Link: https://radar.brookes.ac..
 
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15

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea wi..:

Mencacci, NE ; Kamsteeg, E-J ; Nakashima, K...
https://openaccess.sgul.ac.uk/id/eprint/109978/1/niccolo_et_al.pdf.  , 2016
Link: https://openaccess.sgul...
 
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