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Mobster: accurate detection of mobile element insertions in next generation sequencing data. [electronic resource] by
- Thung, Djie Tjwan
- de Ligt, Joep
- Vissers, Lisenka E M
- Steehouwer, Marloes
- Kroon, Mark
- de Vries, Petra
- Slagboom, Eline P
- Ye, Kai
- Veltman, Joris A
- Hehir-Kwa, Jayne Y
Producer: 20151026
In:
Genome biology vol. 15
Availability: No items available.
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11.
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Exome sequencing identifies three novel candidate genes implicated in intellectual disability. [electronic resource] by
- Agha, Zehra
- Iqbal, Zafar
- Azam, Maleeha
- Ayub, Humaira
- Vissers, Lisenka E L M
- Gilissen, Christian
- Ali, Syeda Hafiza Benish
- Riaz, Moeen
- Veltman, Joris A
- Pfundt, Rolph
- van Bokhoven, Hans
- Qamar, Raheel
Producer: 20150728
In:
PloS one vol. 9
Availability: No items available.
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12.
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Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing. [electronic resource] by
- de Ligt, Joep
- Boone, Philip M
- Pfundt, Rolph
- Vissers, Lisenka E L M
- de Leeuw, Nicole
- Shaw, Christine
- Brunner, Han G
- Lupski, James R
- Veltman, Joris A
- Hehir-Kwa, Jayne Y
Publication details: Genomics data Dec 2014
In:
Genomics data vol. 2
Availability: No items available.
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13.
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Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome. [electronic resource] by
- Riemersma, Moniek
- Mandel, Hanna
- van Beusekom, Ellen
- Gazzoli, Isabella
- Roscioli, Tony
- Eran, Ayelet
- Gershoni-Baruch, Ruth
- Gershoni, Moran
- Pietrokovski, Shmuel
- Vissers, Lisenka E
- Lefeber, Dirk J
- Willemsen, Michèl A
- Wevers, Ron A
- van Bokhoven, Hans
Producer: 20150803
In:
Neurology vol. 84
Availability: No items available.
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14.
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Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. [electronic resource] by
- Feenstra, Ilse
- Vissers, Lisenka E L M
- Pennings, Ronald J E
- Nillessen, Willy
- Pfundt, Rolph
- Kunst, Henricus P
- Admiraal, Ronald J
- Veltman, Joris A
- van Ravenswaaij-Arts, Conny M A
- Brunner, Han G
- Cremers, Cor W R J
Producer: 20120202
In:
American journal of human genetics vol. 89
Availability: No items available.
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15.
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Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. [electronic resource] by
- Willemsen, Marjolein H
- Ba, Wei
- Wissink-Lindhout, Willemijn M
- de Brouwer, Arjan P M
- Haas, Stefan A
- Bienek, Melanie
- Hu, Hao
- Vissers, Lisenka E L M
- van Bokhoven, Hans
- Kalscheuer, Vera
- Nadif Kasri, Nael
- Kleefstra, Tjitske
Producer: 20150129
In:
Journal of medical genetics vol. 51
Availability: No items available.
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16.
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Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNA. [electronic resource] by
- Buysse, Karen
- de Ligt, Joep
- Janssen, Irene M
- van Bon, Bregje W M
- Gomes, Ingrid
- Hehir-Kwa, Jayne
- Eggink, Alex J
- van Vugt, John M G
- Vissers, Lisenka E L M
- Geurts van Kessel, Ad
- Faas, Brigitte H W
Producer: 20141204
In:
Prenatal diagnosis vol. 34
Availability: No items available.
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17.
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Detection of clinically relevant copy number variants with whole-exome sequencing. [electronic resource] by
- de Ligt, Joep
- Boone, Philip M
- Pfundt, Rolph
- Vissers, Lisenka E L M
- Richmond, Todd
- Geoghegan, Joel
- O'Moore, Kathleen
- de Leeuw, Nicole
- Shaw, Christine
- Brunner, Han G
- Lupski, James R
- Veltman, Joris A
- Hehir-Kwa, Jayne Y
Producer: 20140721
In:
Human mutation vol. 34
Availability: No items available.
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18.
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A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. [electronic resource] by
- Iqbal, Zafar
- Shahzad, Mohsin
- Vissers, Lisenka E L M
- van Scherpenzeel, Monique
- Gilissen, Christian
- Razzaq, Attia
- Zahoor, Muhammad Yasir
- Khan, Shaheen N
- Kleefstra, Tjitske
- Veltman, Joris A
- de Brouwer, Arjan P M
- Lefeber, Dirk J
- van Bokhoven, Hans
- Riazuddin, Sheikh
Producer: 20131029
In:
European journal of human genetics : EJHG vol. 21
Availability: No items available.
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19.
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Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism. [electronic resource] by
- Koolen, David A
- Dupont, Juliette
- de Leeuw, Nicole
- Vissers, Lisenka E L M
- van den Heuvel, Simone P A
- Bradbury, Alyson
- Steer, James
- de Brouwer, Arjan P M
- Ten Kate, Leo P
- Nillesen, Willy M
- de Vries, Bert B A
- Parker, Michael J
Producer: 20121012
In:
European journal of human genetics : EJHG vol. 20
Availability: No items available.
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20.
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A de novo paradigm for mental retardation. [electronic resource] by
- Vissers, Lisenka E L M
- de Ligt, Joep
- Gilissen, Christian
- Janssen, Irene
- Steehouwer, Marloes
- de Vries, Petra
- van Lier, Bart
- Arts, Peer
- Wieskamp, Nienke
- del Rosario, Marisol
- van Bon, Bregje W M
- Hoischen, Alexander
- de Vries, Bert B A
- Brunner, Han G
- Veltman, Joris A
Producer: 20101230
In:
Nature genetics vol. 42
Availability: No items available.
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