Karin Weiss
Karin Weiss
Adresse e-mail validée de nih.gov
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The clinical management of type 2 Gaucher disease
K Weiss, AN Gonzalez, G Lopez, L Pedoeim, C Groden, E Sidransky
Molecular genetics and metabolism 114 (2), 110-122, 2015
782015
De novo mutations in CHD4, an ATP-dependent chromatin remodeler gene, cause an intellectual disability syndrome with distinctive dysmorphisms
K Weiss, PA Terhal, L Cohen, M Bruccoleri, M Irving, AF Martinez, ...
The American Journal of Human Genetics 99 (4), 934-941, 2016
592016
Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot
K Weiss, C Applegate, T Wang, DAS Batista
American Journal of Medical Genetics Part A 167 (11), 2702-2706, 2015
232015
How to Evaluate a Child Presenting with an Apparent Life-Threatening Event?
K Weiss, A Fattal-Valevski, S Reif
Sat 5, 20, 2010
222010
Cohesin complex-associated holoprosencephaly
P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ...
Brain 142 (9), 2631-2643, 2019
182019
A CCR4-NOT transcription complex, subunit 1, CNOT1, variant associated with Holoprosencephaly
P Kruszka, SI Berger, K Weiss, JL Everson, AF Martinez, S Hong, ...
The American Journal of Human Genetics 104 (5), 990-993, 2019
162019
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics
K Weiss, P Kruszka, MJG Sacoto, YA Addissie, DW Hadley, CK Hadsall, ...
Genetics in Medicine 20 (1), 14-23, 2018
162018
Human germline hedgehog pathway mutations predispose to fatty liver
MJ Guillen-Sacoto, AF Martinez, Y Abe, P Kruszka, K Weiss, JL Everson, ...
Journal of hepatology 67 (4), 809-817, 2017
152017
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
K Weiss, K Wigby, M Fannemel, LB Henderson, N Beck, N Ghali, ...
European Journal of Human Genetics 25 (8), 946-951, 2017
152017
Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay
N Orenstein, K Weiss, SN Oprescu, R Shapira, D Kidron, ...
Clinical genetics 91 (6), 913-917, 2017
142017
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
K Weiss, HP Lazar, A Kurolap, AF Martinez, T Paperna, L Cohen, ...
Genetics in Medicine 22 (2), 389-397, 2020
102020
SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly
B Stokes, SI Berger, BA Hall, K Weiss, AF Martinez, DW Hadley, ...
Congenital anomalies 58 (1), 29-32, 2018
82018
Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women
K Weiss, A Orr-Urtreger, IK Ber, T Naiman, R Shomrat, E Bardugu, ...
Genetics in Medicine 16 (12), 940-944, 2014
82014
Congenital myopathies in Israeli families
K Weiss, Y Shapira, B Glick, T Lerman-Sagie, E Shahar, H Goez, M Kutai, ...
Journal of child neurology 22 (6), 732-736, 2007
72007
Holoprosencephaly from conception to adulthood
K Weiss, PS Kruszka, E Levey, M Muenke
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2018
62018
Study DDD, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause …
K Weiss, PA Terhal, L Cohen, M Bruccoleri, M Irving, AF Martinez, ...
Am J Hum Genet 99 (4), 934-41, 2016
52016
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
TG Drivas, D Li, D Nair, JT Alaimo, M Alders, J Altmüller, TS Barakat, ...
European Journal of Human Genetics, 1-10, 2020
42020
KCNQ1 Gene Variants in Large Asymptomatic Populations: Considerations for Genomic Screening of Military Cohorts
P Kruszka, K Weiss, DW Hadley
Military medicine 182 (3-4), e1795-e1800, 2017
42017
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
LELM Vissers, S Kalvakuri, E de Boer, S Geuer, M Oud, I van Outersterp, ...
The American Journal of Human Genetics 107 (1), 164-172, 2020
32020
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population
K Weiss, N Ekhilevitch, L Cohen, S Bratman-Morag, R Bello, AF Martinez, ...
European Journal of Medical Genetics 63 (2), 103643, 2020
32020
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