Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, +34

Genetics in Medicine

Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsGenetic Epidemiology +3

Power Spectral Analysis of Heart Rate Variability During the 100-g Oral Glucose Tolerance Test in Pregnant Women

Amir Weissman, Lior Löwenstein, Amir Peleg, +2

Diabetes Care

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy

Marialetizia Motta, Lena Sagi‐Dain, Oliver H.F. Krumbach, +16

Human Molecular Genetics

CardiomyopathyHeart FailureMras MutationsGenetic DisorderGenetics +11

Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, +45

Brain

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene <scp> <i>ATOH1</i> </scp>

Zippora Brownstein, Süleyman Gülsüner, Tom Walsh, +47

Clinical Genetics

National Rapid Genome Sequencing in Neonatal Intensive Care

Daphna Marom, Adi Mory, Sivan Reytan-Miron, +45

JAMA Network Open

The yield and complications of amniocentesis performed after 24 weeks of gestation

Keren Tzadikevitch Geffen, Ohad Ben-Zvi, Omer Weitzner, +3

Archives of Gynecology and Obstetrics

FertilityPediatricsGynecologyMaternal HealthPregnancy +8

Whole‐exome sequencing reveals a novel missense mutation in the <i>MARS</i> gene related to a rare Charcot‐Marie‐Tooth neuropathy type 2U

Lena Sagi‐Dain, Lilach Shemer, Nathanel Zelnik, +5

Journal of the Peripheral Nervous System

NeurogenomicsGeneticsGenetic EpidemiologyPathologyMolecular Genetics +17

Microarray analysis in pregnancies with isolated unilateral kidney agenesis

Lena Sagi‐Dain, Idit Maya, Amir Peleg, +6

Pediatric Research

UrologyRenal FunctionMedicineMicroarray AnalysisPrenatal Diagnosis +3

A novel heterozygous loss‐of‐function <i>DCC</i> Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature

Lena Sagi‐Dain, Alina Kurolap, Anat Ilivitzki, +6

American Journal of Medical Genetics Part A

Receptor VariantGeneticsCorpus CallosumPrenatal AgenesisDcc Netrin 1 +16