about
Refining analyses of copy number variation identifies specific genes associated with developmental delayPalindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instabilityGenomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia.A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic DefectsNUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylationPIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.Molecular diagnostic experience of whole-exome sequencing in adult patientsThe phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.Diagnostic utility of microarray testing in pregnancy loss.Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.The complex behavioral phenotype of 15q13.3 microdeletion syndrome.Phenotypic expansion in - a common cause of intellectual disability in femalesDisruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionDelineation of phenotypes and genotypes related to cohesin structural protein RAD21DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tractReview of the phenotypic spectrum associated with haploinsufficiency of MYRFBiallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophyDe novo copy number variants and parental age: Is there an association?BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder
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description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Jill A Rosenfeld
@ast
Jill A Rosenfeld
@en
Jill A Rosenfeld
@es
Jill A Rosenfeld
@nl
Jill A Rosenfeld
@sl
type
label
Jill A Rosenfeld
@ast
Jill A Rosenfeld
@en
Jill A Rosenfeld
@es
Jill A Rosenfeld
@nl
Jill A Rosenfeld
@sl
prefLabel
Jill A Rosenfeld
@ast
Jill A Rosenfeld
@en
Jill A Rosenfeld
@es
Jill A Rosenfeld
@nl
Jill A Rosenfeld
@sl
P106
P21
P31
P496
0000-0001-5664-7987