De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Karin Weiss, Lior Cohen, Michael Bruccoleri, +23

The American Journal of Human Genetics

ChromatinChromatin StructureDistinctive DysmorphismsGenetic DisorderIntellectual Disability Syndrome +9

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, +44

The American Journal of Human Genetics

Neurodevelopmental DisordersAtpase ModuleDevelopmental AnomalyDevelopmental BiologyGenetic Disorder +10

Studies of three Amerindian populations using nuclear DNA polymorphisms.

J.R. Kidd, Francis L. Black, Karin Weiss, +2

PubMed

GeneticsHuman PolymorphismIndigenous PeoplesGenetic DiversityMolecular Ecology +14

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss, Hayley P. Lazar, Alina Kurolap, +46

Genetics in Medicine

Mendelian DisorderGenetic DisorderGeneticsGenotype–phenotype CorrelationsGenetic Epidemiology +5

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, +111

The American Journal of Human Genetics

Down SyndromeDeletion SyndromeDevelopmental BiologyGenetic DisorderGenetics +9

Cohesin complex-associated holoprosencephaly

Paul Kruszka, Seth Berger, Valentina Casà, +32

Brain

Corticobasal DegenerationGeneticsDisease Gene IdentificationEpigeneticsBrain Pathology +16

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

Theodore G. Drivas, Dong Li, Divya Nair, +62

European Journal of Human Genetics

Clinical DisordersMendelian DisorderChd3 PatientsDisease MechanismGenetic Disorder +7

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

Lisenka E.L.M. Vissers, Sreehari Kalvakuri, Elke de Boer, +69

The American Journal of Human Genetics

Developmental BiologyCause Neurodevelopmental DelayGenetic DisorderGeneticsNeurodevelopment +7

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Karin Weiss, Kristen Wigby, Madeleine Fannemel, +11

European Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyMendelian DisorderCraniofacial DisorderGenetic Disorder +9

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

Paul Kruszka, Seth Berger, Karin Weiss, +6

The American Journal of Human Genetics

Transcriptional RegulationNatural SciencesMolecular BiologyGene RegulationVariant Associated +6