Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

Q. Waisfisz · SciRah

Researcher profile · Semantic Scholar

Q. Waisfisz

Share profile

Q. Waisfisz — researcher profile on SciRah

h-index: 56
Works: 191
Citations: 16K

Most-cited papers

Association analysis identifies 65 new breast cancer risk loci
K. Michailidou, S. Lindström, J. Dennis, J. Beesley +355 more
2017Nature1,360 citations Open access
Semantic Scholar
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
K. Michailidou, J. Beesley, S. Lindstrom, S. Canisius +239 more
2015Nature Genetics587 citations Open access
Semantic Scholar
MicroRNA Related Polymorphisms and Breast Cancer Risk
Sofia Khan, Dario Greco, K. Michailidou, R. Milne +157 more
2014PLoS ONE560 citations Open access
Semantic Scholar
Genome-wide association studies identify four ER negative–specific breast cancer risk loci
M. García-Closas, F. Couch, S. Lindstrom, K. Michailidou +266 more
2013Nature Genetics442 citations Open access
Semantic Scholar
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
S. Gräf, M. Haimel, M. Bleda, C. Hadinnapola +61 more
2018Nature Communications340 citations Open access
Semantic Scholar
A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer
Lang Wu, Wei Shi, J. Long, Xing-Yi Guo +206 more
2018Nature Genetics214 citations Open access
Semantic Scholar
Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.
M. Schmidt, F. Hogervorst, R. van Hien, S. Cornelissen +80 more
2016Journal of Clinical Oncology184 citations Open access
Semantic Scholar
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis
C. Rhodes, Ken Batai, M. Bleda, M. Haimel +114 more
2018The Lancet Respiratory Medicine156 citations Open access
Semantic Scholar
PLS3 mutations in X-linked osteoporosis with fractures.
F. V. van Dijk, M. Zillikens, D. Micha, M. Riessland +29 more
2013New England Journal of Medicine118 citations Open access
Semantic Scholar
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
E. M. Hamilton, Emiel Polder, A. Vanderver, S. Naidu +11 more
2014Brain : a journal of neurology109 citations Open access
Semantic Scholar
Mutations in RARS cause hypomyelination
N. I. Wolf, G. Salomons, R. Rodenburg, P. Pouwels +7 more
2014Annals of Neurology105 citations
Semantic Scholar
Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis.
Xiang Shu, Lang Wu, Nikhil K. Khankari, X. Shu +202 more
2018International Journal of Epidemiology103 citations Open access
Semantic Scholar
PLS3 mutations in X-linked osteoporosis with fractures
M. Zillikens, D. F. S. van, D. Micha, M. Riessland +32 more
201495 citations
Semantic Scholar
Exome sequencing reveals mutated SLC19A3 in patients withan early-infantile, lethal, encephalopathy
Sietske H. G. Kevelam, M. Bugiani, G. Salomons, A. Feigenbaum +12 more
2013Brain : a journal of neurology90 citations Open access
Semantic Scholar
A Genome-wide Association Study of Early-onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age
H. Ahsan, J. Halpern, M. Kibriya, B. Pierce +72 more
2014Cancer Epidemiology, Biomarkers and Prevention85 citations Open access
Semantic Scholar
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
Marisa I. Mendes, Mariana Gutierrez Salazar, K. Guerrero, I. Thiffault +17 more
2018American Journal of Human Genetics81 citations Open access
Semantic Scholar
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
M. Motta, Luca Pannone, F. Pantaleoni, G. Bocchinfuso +46 more
2020American Journal of Human Genetics79 citations Open access
Semantic Scholar
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy
C. Simons, D. Dyment, S. Bent, J. Crawford +13 more
2017Brain : a journal of neurology77 citations Open access
Semantic Scholar
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
T. Vrijenhoek, K. Kraaijeveld, M. Elferink, J. de Ligt +44 more
2015European Journal of Human Genetics75 citations Open access
Semantic Scholar
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
E. Bal, Hyun-sook Park, Z. Belaid-Choucair, H. Kayserili +33 more
2017Nature Medicine68 citations Open access
Semantic Scholar
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
S. Ghosh, K. Becker, He Huang, Tracy J. Dixon-Salazar +35 more
2018American Journal of Human Genetics67 citations Open access
Semantic Scholar
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Hui Guo, E. Bettella, Paul C. Marcogliese, Rongjuan Zhao +64 more
2019Nature Communications63 citations Open access
Semantic Scholar
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
Lin Li, Mohammad Ghorbani, M. Weisz-Hubshman, J. Rousseau +30 more
2019Journal of Clinical Investigation58 citations Open access
Semantic Scholar
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC
E. M. Hamilton, E. Bertini, L. Kalaydjieva, B. Morar +14 more
2017Neurology56 citations Open access
Semantic Scholar
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
F. V. van Dijk, O. Semler, J. Etich, Anna Köhler +34 more
2020American Journal of Human Genetics55 citations Open access
Semantic Scholar
Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics
T. Rigter, L. Henneman, U. Kristoffersson, A. Hall +7 more
2013Human Mutation54 citations Open access
Semantic Scholar
Recessive ITPA mutations cause an early infantile encephalopathy
Sietske H. G. Kevelam, J. Bierau, R. Salvarinova, S. Agrawal +7 more
2015Annals of Neurology53 citations Open access
Semantic Scholar
Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features
E. Stolerman, Elizabeth Francisco, Jennifer L. Stallworth, Julie R. Jones +27 more
2019American Journal of Medical Genetics. Part A52 citations Open access
Semantic Scholar
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
Marianna Madeo, Michelle E. Stewart, Yuyang Sun, N. Sahir +37 more
2016American Journal of Human Genetics52 citations Open access
Semantic Scholar
Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL)
M. Bugiani, Sietske H. G. Kevelam, Hannah S. Bakels, Q. Waisfisz +5 more
2016Neurology51 citations Open access
Semantic Scholar
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
M. S. van der Knaap, M. Bugiani, Marisa I. Mendes, L. Riley +18 more
2019Neurology48 citations Open access
Semantic Scholar
Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation
Xiaoyan Ge, Henry Z. Gong, K. Dumas, Jessica Litwin +10 more
2016npj Genomic Medicine48 citations Open access
Semantic Scholar
Benign and malignant tumors in Rubinstein–Taybi syndrome
Max V Boot, M. V. van Belzen, L. Overbeek, N. Hijmering +5 more
2018American Journal of Medical Genetics. Part A47 citations Open access
Semantic Scholar
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence
M. B. Tan-Sindhunata, I. B. Mathijssen, M. Smit, F. Baas +10 more
2014European Journal of Human Genetics47 citations Open access
Semantic Scholar
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures
Susanne Horn, Margaret G Au, L. Basel-Salmon, P. Bayrak-Toydemir +17 more
2019Brain : a journal of neurology46 citations Open access
Semantic Scholar
Altered PLP1 splicing causes hypomyelination of early myelinating structures
Sietske H. G. Kevelam, J. Taube, R. V. van Spaendonk, E. Bertini +22 more
2015Annals of Clinical and Translational Neurology46 citations Open access
Semantic Scholar
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
F. Mochel, A. Rastetter, B. Ceulemans, K. Platzer +30 more
2020Brain : a journal of neurology45 citations Open access
Semantic Scholar
Informed consent for exome sequencing in diagnostics: exploring first experiences and views of professionals and patients
T. Rigter, C. J. V. van Aart, M. Elting, Q. Waisfisz +2 more
2013Clinical Genetics45 citations Open access
Semantic Scholar
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
S. Ferdinandusse, K. McWalter, Heleen te Brinke, L. Ijlst +40 more
2020Genetics in Medicine42 citations Open access
Semantic Scholar
Genomic profiling of CHEK2*1100delC-mutated breast carcinomas
M. Massink, Irsan E. Kooi, J. Martens, Q. Waisfisz +1 more
2015BMC Cancer42 citations Open access
Semantic Scholar
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
S. Ghosh, K. Becker, He Huang, Tracy J. Dixon-Salazar +35 more
2018American Journal of Human Genetics40 citations Open access
Semantic Scholar
Clonality, Antigen Recognition, and Suppression of CD8+ T Cells Differentially Affect Prognosis of Breast Cancer Subtypes
Dora Hammerl, M. Massink, M. Smid, C. V. van Deurzen +4 more
2019Clinical Cancer Research38 citations Open access
Semantic Scholar
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
F. Tessadori, K. Duran, K. Knapp, M. Fellner +61 more
2022American Journal of Human Genetics33 citations Open access
Semantic Scholar
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation
S. Carvalhal, I. Bader, M. Rooimans, A. Oostra +13 more
2022Science Advances33 citations Open access
Semantic Scholar
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema
E. Passchier, Sven Kerst, Eelke Brouwers, E. M. Hamilton +20 more
2023Brain : a journal of neurology31 citations Open access
Semantic Scholar
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
T. Vrijenhoek, K. Kraaijeveld, M. Elferink, J. de Ligt +44 more
2015European Journal of Human Genetics26 citations Open access
Semantic Scholar
Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers.
Min Peng, Janine L. Bakker, R. Dicioccio, J. Gille +7 more
2013Genes & cancer25 citations Open access
Semantic Scholar
Proper genomic profiling of (BRCA1‐mutated) basal‐like breast carcinomas requires prior removal of tumor infiltrating lymphocytes
M. Massink, Irsan E. Kooi, S. V. van Mil, E. Jordanova +17 more
2015Molecular Oncology24 citations Open access
Semantic Scholar
A de novoFLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation
F. Menko, P. Johannesma, R. V. van Moorselaar, R. Reinhard +11 more
2013Familial Cancer24 citations
Semantic Scholar
Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy
I. Kapferer-Seebacher, Q. Waisfisz, S. Boesch, Marieke Bronk +5 more
2018Neurogenetics23 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

H. Meijers-Heijboer×14
Invite
H. Meijers-Heijboer — researcher profile on SciRah
M. S. van der Knaap×12
Invite
M. S. van der Knaap — researcher profile on SciRah
N. Wolf×9
Invite
N. Wolf — researcher profile on SciRah
K. Czene×8
Invite
K. Czene — researcher profile on SciRah

×8

Invite

O. Fletcher — researcher profile on SciRah

Invite

A. Meindl — researcher profile on SciRah

H. Nevanlinna×8

Invite

H. Nevanlinna — researcher profile on SciRah

Invite

J. Peto — researcher profile on SciRah

Invite

M. Southey — researcher profile on SciRah

Invite

I. Andrulis — researcher profile on SciRah

Invite

A. Dunning — researcher profile on SciRah

Invite

M. Weiss — researcher profile on SciRah