K. Weiss

发表

Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay

M. Muenke, N. Orenstein, K. Weiss, 2017, Clinical genetics.

Molecular Genetics and Metabolism

G. Lopez, E. Sidransky, C. Groden, 2015 .

Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt

H. Baris, K. Weiss, N. Ekhilevitch, 2018, Rambam Maimonides medical journal.

Holoprosencephaly from conception to adulthood

P. Kruszka, M. Muenke, K. Weiss, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot

K. Weiss, D. Batista, Carolyn D Applegate, 2015, American journal of medical genetics. Part A.

Human germline hedgehog pathway mutations predispose to fatty liver.

R. Bataller, J. Ward, D. Kleiner, 2017, Journal of hepatology.

Cohesin complex-associated holoprosencephaly

David R. Murdock, R. Poot, R. Louie, 2019 .

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly

David R. Murdock, D. Hadley, P. Kruszka, 2018, Congenital anomalies.

Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.

B. Dallapiccola, K. Weiss, F. C. Radio, 2020, The Journal of clinical investigation.

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

Carol J. Saunders, E. Zackai, G. Cooper, 2020, European Journal of Human Genetics.

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

J. Rosenfeld, Yaping Yang, J. Beuten, 2016, American journal of human genetics.

A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia

K. Weiss, V. Meiner, M. Khayat, 2022, Journal of Medical Genetics.

The clinical management of Type 2 Gaucher disease.

G. Lopez, E. Sidransky, C. Groden, 2015, Molecular genetics and metabolism.

A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report

F. Glaser, D. Magen, K. Weiss, 2021, Frontiers in Immunology.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

I. Scheffer, H. Peeters, H. Mefford, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Concomitant Congenital CMV Infection and Inherited Liver Diseases.

H. Mandel, K. Weiss, T. Falik-Zaccai, 2021, European journal of medical genetics.

A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel

K. Weiss, N. Ekhilevitch, T. Paperna, 2021, Familial Cancer.

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

R. Pfundt, V. Shashi, T. Kleefstra, 2021, American journal of medical genetics. Part A.

SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome

K. Weiss, S. Smithson, S. Maitz, 2020, Frontiers in Neurology.

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

C. Cytrynbaum, R. Weksberg, R. Kingston, 2020, American journal of human genetics.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

R. Pfundt, B. D. de Vries, M. Bamshad, 2021, medRxiv.

KCNQ1 Gene Variants in Large Asymptomatic Populations: Considerations for Genomic Screening of Military Cohorts.

D. Hadley, P. Kruszka, K. Weiss, 2017, Military medicine.

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.

M. Muenke, H. Baris, K. Weiss, 2020, European journal of medical genetics.

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

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

Determining the pathogenicity of variants of uncertain significance and identification of a founder variant in the epilepsy-associated gene, SZT2

G. Carvill, P. Striano, L. Bird, 2021, bioRxiv.

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

P. Kruszka, M. Muenke, K. Weiss, 2019, American journal of human genetics.

RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function

K. Weiss, A. Mory, S. Selig, 2021, Journal of Human Genetics.

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.

L. Vissers, I. Krantz, R. Bodmer, 2020, American journal of human genetics.

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

A. Hamosh, Marilyn C. Jones, P. Kruszka, 2017, European Journal of Human Genetics.

Non-classical Kawasaki disease in a 2 month old infant.

K. Weiss, M. Goldman, T. Bistritzer, 2006, The Israel Medical Association journal : IMAJ.

High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants.

G. Rennert, K. Weiss, Y. Goldberg, 2023, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

Cohesin complex-associated holoprosencephaly.

David R. Murdock, R. Poot, R. Louie, 2019, Brain : a journal of neurology.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

J. Lupski, A. Balduini, H. Lochmüller, 2023, American journal of human genetics.

From phenotyping to genotyping - bioinformatics for the busy clinician.

A Reches, K Weiss, L Bazak, 2019, European journal of medical genetics.

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

Yonit A. Addissie, J. Hahn, M. Delgado, 2017, Genetics in Medicine.

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women

K. Weiss, S. Ben-Shachar, A. Orr-Urtreger, 2014, Genetics in Medicine.

Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

K. Weiss, A. Kurolap, A. Mory, 2023, Human Genomics.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

David K. Wright, A. Sinclair, P. Kwan, 2023, Nature communications.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.