De novo mutations in mental retardation

por Veltman, Joris A
Publicado 2011

De novo diagnostics of patients with intellectual disability

por Veltman, Joris A
Publicado 2012

The role of de novo mutations in adult-onset neurodegenerative disorders

por Nicolas, Gaël, Veltman, Joris A.
Publicado 2018

From genes to genomes in the clinic

por Veltman, Joris A., Lupski, James R.
Publicado 2015

Novel bioinformatic developments for exome sequencing

por Lelieveld, Stefan H., Veltman, Joris A., Gilissen, Christian
Publicado 2016

New insights into the generation and role of de novo mutations in health and disease

por Acuna-Hidalgo, Rocio, Veltman, Joris A., Hoischen, Alexander
Publicado 2016

Unlocking Mendelian disease using exome sequencing

por Gilissen, Christian, Hoischen, Alexander, Brunner, Han G, Veltman, Joris A
Publicado 2011

Clinical exome sequencing in daily practice: 1,000 patients and beyond

por van Zelst-Stams, Wendy A, Scheffer, Hans, Veltman, Joris A
Publicado 2014

Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics

por Wiel, Laurens, Venselaar, Hanka, Veltman, Joris A., Vriend, Gert, Gilissen, Christian
Publicado 2017

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

por Lelieveld, Stefan H., Spielmann, Malte, Mundlos, Stefan, Veltman, Joris A., Gilissen, Christian
Publicado 2015

MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains

por Wiel, Laurens, Baakman, Coos, Gilissen, Daan, Veltman, Joris A., Vriend, Gerrit, Gilissen, Christian
Publicado 2019

A systematic review and standardized clinical validity assessment of male infertility genes

por Oud, Manon S, Volozonoka, Ludmila, Smits, Roos M, Vissers, Lisenka E L M, Ramos, Liliana, Veltman, Joris A
Publicado 2019

Genome-wide Copy Number Profiling on High-density Bacterial Artificial Chromosomes, Single-nucleotide Polymorphisms, and Oligonucleotide Microarrays: A Platform Comparison based on...

por Hehir-Kwa, Jayne Y., Egmont-Petersen, Michael, Janssen, Irene M., Smeets, Dominique, van Kessel, Ad Geurts, Veltman, Joris A.
Publicado 2007

Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models

por Webber, Caleb, Hehir-Kwa, Jayne Y., Nguyen, Duc-Quang, de Vries, Bert B. A., Veltman, Joris A., Ponting, Chris P.
Publicado 2009

Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach

por Holt, Giles S., Batty, Lois E., Alobaidi, Bilal K. S., Smith, Hannah E., Oud, Manon S., Ramos, Liliana, Xavier, Miguel J., Veltman, Joris A.
Publicado 2022

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

por Chen, Xiaowei Sylvia, Reader, Rose H., Hoischen, Alexander, Veltman, Joris A., Simpson, Nuala H., Francks, Clyde, Newbury, Dianne F., Fisher, Simon E.
Publicado 2017

An integrated framework of personalized medicine: from individual genomes to participatory health care

por Evers, Andrea W.M., Rovers, Maroeska M., Kremer, Jan A.M., Veltman, Joris A., Schalken, Jack A., Bloem, Bas R., van Gool, Alain J.
Publicado 2012

Aberrant Expressions and Variant Screening of SEMA3D in Indonesian Hirschsprung Patients

por Gunadi, Kalim, Alvin Santoso, Budi, Nova Yuli Prasetyo, Hafiq, Hamzah Muhammad, Maharani, Annisa, Febrianti, Maharani, Ryantono, Fiko, Yulianda, Dicky, Iskandar, Kristy, Veltman, Joris A.
Publicado 2020

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

por Hehir-Kwa, Jayne Y., Wieskamp, Nienke, Webber, Caleb, Pfundt, Rolph, Brunner, Han G., Gilissen, Christian, de Vries, Bert B. A., Ponting, Chris P., Veltman, Joris A.
Publicado 2010

Screening by single-molecule Molecular Inversion Probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian males

por Batiha, Osamah, Burghel, George J, Alkofahi, Ayesha, Alsharu, Emad, Smith, Hannah, Alobaidi, Bilal, Al-Smadi, Mohammad, Awamlah, Nour, Hussein, Lama, Abdelnour, Amid, Sheth, Harsh, Veltman, Joris A
Publicado 2022