| 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 | 151 | 2016 |
| 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 | 126 | 2015 |
| De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism MJG Sacoto, IA Tchasovnikarova, E Torti, C Forster, EH Andrew, I Anselm, ... The American Journal of Human Genetics 107 (2), 352-363, 2020 | 73 | 2020 |
| SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ... The American Journal of Human Genetics 108 (3), 502-516, 2021 | 68 | 2021 |
| 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 | 65 | 2020 |
| Cohesin complex-associated holoprosencephaly P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ... Brain 142 (9), 2631-2643, 2019 | 59 | 2019 |
| 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 | 43 | 2019 |
| 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 | 42 | 2020 |
| 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 | 41 | 2017 |
| 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 | 39 | 2015 |
| 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 28 (10), 1422-1431, 2020 | 35 | 2020 |
| 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 | 32 | 2017 |
| 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 | 30 | 2017 |
| 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 | 26 | 2018 |
| 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 | 23 | 2018 |
| Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome P Kalailingam, KQ Wang, XR Toh, TQ Nguyen, M Chandrakanthan, ... The Journal of clinical investigation 130 (8), 4081-4093, 2020 | 21 | 2020 |
| De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder C Dias, R Pfundt, T Kleefstra, J Shuurs‐Hoeijmakers, EMJ Boon, ... American Journal of Medical Genetics Part A 185 (8), 2384-2390, 2021 | 20 | 2021 |
| 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 | 16 | 2018 |
| SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome M Crippa, I Bestetti, S Maitz, K Weiss, A Spano, M Masciadri, S Smithson, ... Frontiers in Neurology 11, 631, 2020 | 15 | 2020 |
| 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 | 12 | 2020 |
