Anneke T. Vulto-van Silfhout

Disruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome

Ludovico Rizzuti, Alessandro Vitriolo, Marlene F. Pereira, Lize Meert et autres

it, nl, us, ca, be (code pays fourni par la source)

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen, Lia Goltstein et autres

nl, ca, au, be, us, sa, ch, gb (code pays fourni par la source)

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié‐Bitach et autres

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

Alexander J.M. Dingemans, Kim M. G. Truijen, Jung‐Hyun Kim, Zahide Alaçam et autres

nl, us, tr, fr, gb, pl, au, no (code pays fourni par la source)

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Alexander Hoischen, Shalini N. Jhangiani et autres

us, br, nl, pl, pt, dk, tr (code pays fourni par la source)

Variants inCUL4Bare Associated with Cerebral Malformations

Anneke T. Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi‐Buisson, Stefan A. Haas et autres

nl, us, fr, de, fi, ch, sa, gb (code pays fourni par la source)

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A.F. Stessman et autres

us, nl, it, be, gb (code pays fourni par la source)

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

Valter Tucci, Tjitske Kleefstra, Andrea Hardy, Ines Heise et autres

it, gb, nl, us (code pays fourni par la source)

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe, Geert Vandeweyer et autres

be, nl, us, au, se, it (code pays fourni par la source)

Clinical Significance of De Novo and Inherited Copy-Number Variation

Anneke T. Vulto-van Silfhout, Jayne Y. Hehir‐Kwa, Bregje W.M. van Bon, Janneke Schuurs-Hoeijmakers et autres

nl, gb (code pays fourni par la source)

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

Philippe M. Campeau, Guy M. Lenk, James T. Lu, Yangjin Bae et autres

us, gb, mx, it, de, nl, fr, au (code pays fourni par la source)

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon, Tjitske Kleefstra et autres

nl (code pays fourni par la source)