| Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block, GWE Santen, ... Nature genetics 44 (12), 1370-1374, 2012 | 644 | 2012 |
| Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome GWE Santen, E Aten, Y Sun, R Almomani, C Gilissen, M Nielsen, SG Kant, ... Nature genetics 44 (4), 379-380, 2012 | 389 | 2012 |
| Targeted next‐generation sequencing can replace Sanger sequencing in clinical diagnostics B Sikkema‐Raddatz, LF Johansson, EN de Boer, R Almomani, LG Boven, ... Human mutation 34 (7), 1035-1042, 2013 | 387 | 2013 |
| Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy KY van Spaendonck-Zwarts, A Posafalvi, MP van den Berg, ... European heart journal 35 (32), 2165-2173, 2014 | 213 | 2014 |
| Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy R Almomani, JMA Verhagen, JC Herkert, E Brosens, ... Journal of the American College of Cardiology 67 (5), 515-525, 2016 | 83 | 2016 |
| Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late‐Infantile Neuronal Ceroid … Y Sun, R Almomani, GJ Breedveld, GWE Santen, E Aten, DJ Lefeber, ... Human mutation 34 (5), 706-713, 2013 | 83 | 2013 |
| Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene Y Sun, R Almomani, E Aten, J Celli, J Van der Heijden, H Venselaar, ... The American Journal of Human Genetics 87 (1), 146-153, 2010 | 74 | 2010 |
| Yield of peripheral sodium channels gene screening in pure small fibre neuropathy I Eijkenboom, M Sopacua, JGJ Hoeijmakers, BTA de Greef, P Lindsey, ... Journal of Neurology, Neurosurgery & Psychiatry 90 (3), 342-352, 2019 | 69 | 2019 |
| Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis R Almomani, N van der Stoep, E Bakker, JT den Dunnen, MH Breuning, ... Neuromuscular Disorders 19 (6), 383-390, 2009 | 52 | 2009 |
| A gain-of-function sodium channel β2-subunit mutation in painful diabetic neuropathy M Alsaloum, M Estacion, R Almomani, MM Gerrits, GJ Bönhof, D Ziegler, ... Molecular pain 15, 1744806919849802, 2019 | 44 | 2019 |
| Elevated interleukin 31 serum levels in hemodialysis patients are associated with uremic pruritus AO Oweis, ALQ Firas, K Bodoor, L Heis, MA Alfaqih, R Almomani, ... Cytokine 138, 155369, 2021 | 42 | 2021 |
| COL6A5 variants in familial neuropathic chronic itch F Martinelli-Boneschi, M Colombi, M Castori, G Devigili, R Eleopra, ... Brain 140 (3), 555-567, 2017 | 41 | 2017 |
| IL-33/13 axis and IL-4/31 axis play distinct roles in inflammatory process and itch in psoriasis and atopic dermatitis K Bodoor, F Al-Qarqaz, LA Heis, MA Alfaqih, AO Oweis, R Almomani, ... Clinical, cosmetic and investigational dermatology, 419-424, 2020 | 40 | 2020 |
| Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome MP van den Berg, R Almomani, I Biaggioni, M van Faassen, ... Circulation research 122 (6), 846-854, 2018 | 29 | 2018 |
| Clinical and demographic features of basal cell carcinoma in North Jordan F Al-Qarqaz, M Marji, K Bodoor, R Almomani, W Al Gargaz, D Alshiyab, ... Journal of Skin Cancer 2018, 2018 | 26 | 2018 |
| Exome sequencing identifies a branch point variant in Aarskog–Scott syndrome E Aten, Y Sun, R Almomani, GWE Santen, T Messemaker, SM Maas, ... Human mutation 34 (3), 430-434, 2013 | 23 | 2013 |
| Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy R Almomani, JC Herkert, A Posafalvi, JG Post, LG Boven, ... Journal of medical genetics 57 (1), 23-30, 2020 | 21 | 2020 |
| Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing R Almomani, M Marchi, M Sopacua, P Lindsey, E Salvi, B Koning, ... PLoS One 15 (9), e0238467, 2020 | 20 | 2020 |
| Experiences with array-based sequence capture; toward clinical applications R Almomani, J Van Der Heijden, Y Ariyurek, Y Lai, E Bakker, ... European Journal of Human Genetics 19 (1), 50-55, 2011 | 18 | 2011 |
| GPSM2 and Chudley–McCullough Syndrome: A Dutch Founder Variant Brought to North America R Almomani, Y Sun, E Aten, Y Hilhorst‐Hofstee, CM Peeters‐Scholte, ... American Journal of Medical Genetics Part A 161 (5), 973-976, 2013 | 14 | 2013 |
