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

N. Patel · SciRah

Researcher profile · Semantic Scholar

N. Patel

Share profile

N. Patel — researcher profile on SciRah

h-index: 35
Works: 108
Citations: 3,844

Most-cited papers

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
A. Alazami, N. Patel, H. Shamseldin, S. Anazi +49 more
2015Cell Reports461 citations Open access
Semantic Scholar
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield
S. Anazi, S. Maddirevula, E. Faqeih, H. Alsedairy +44 more
2017Molecular Psychiatry233 citations
Semantic Scholar
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
I. Obiorah, B. Patel, E. Groarke, Weixin Wang +16 more
2021Blood Advances216 citations Open access
Semantic Scholar
Characterizing the morbid genome of ciliopathies
R. Shaheen, K. Szymanska, Basudha Basu, N. Patel +36 more
2016Genome Biology167 citations Open access
Semantic Scholar
Expanding the genetic heterogeneity of intellectual disability
S. Anazi, S. Maddirevula, V. Salpietro, Yasmine T. Asi +39 more
2017Human Genetics160 citations
Semantic Scholar
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Bo Yuan, D. Pehlivan, E. Karaca, N. Patel +31 more
2015Journal of Clinical Investigation154 citations Open access
Semantic Scholar
The genetic landscape of familial congenital hydrocephalus
R. Shaheen, M. Sebai, N. Patel, N. Ewida +25 more
2017Annals of Neurology127 citations
Semantic Scholar
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies
N. Patel, M. Aldahmesh, H. Alkuraya, S. Anazi +26 more
2015Genetics in Medicine114 citations Open access
Semantic Scholar
Autozygome and high throughput confirmation of disease genes candidacy
S. Maddirevula, F. Alzahrani, M. Al-Owain, Mohammad A. Al-Muhaizea +44 more
2018Genetics in Medicine113 citations Open access
Semantic Scholar
Genomic and phenotypic delineation of congenital microcephaly
R. Shaheen, S. Maddirevula, N. Ewida, S. Alsahli +43 more
2018Genetics in Medicine110 citations Open access
Semantic Scholar
Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden
M. Abouelhoda, Turki M. Sobahy, M. El-Kalioby, N. Patel +7 more
2016Genetics in Medicine105 citations Open access
Semantic Scholar
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
A. Alazami, S. Al-Qattan, E. Faqeih, A. Alhashem +20 more
2016Human Genetics101 citations
Semantic Scholar
A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome
E. Bochukova, K. Lawler, S. Croizier, J. Keogh +10 more
2018Cell Reports97 citations Open access
Semantic Scholar
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract
N. Patel, D. Anand, D. Monies, S. Maddirevula +16 more
2016Human Genetics92 citations Open access
Semantic Scholar
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
S. Maddirevula, Hiroyuki Kuwahara, N. Ewida, H. Shamseldin +24 more
2020Genome Biology79 citations Open access
Semantic Scholar
Role of genetic and environmental factors in British twins with inflammatory bowel disease
S. Ng, S. Woodrow, N. Patel, J. Subhani +1 more
2012Inflammatory Bowel Diseases72 citations
Semantic Scholar
Expanding the phenome and variome of skeletal dysplasia
S. Maddirevula, S. Alsahli, Lamees Alhabeeb, N. Patel +52 more
2018Genetics in Medicine71 citations Open access
Semantic Scholar
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort
R. Shaheen, N. Patel, H. Shamseldin, F. Alzahrani +21 more
2015Genetics in Medicine67 citations Open access
Semantic Scholar
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
N. Patel, Arif O. Khan, A. Mansour, Jawahir Y. Mohamed +7 more
2014American Journal of Human Genetics65 citations Open access
Semantic Scholar
Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome.
N. Patel, Alina Dulau-Florea, K. Calvo
2021Seminars in hematology (Print)57 citations
Semantic Scholar
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos
N. Patel, A. Khan, S. Alsahli, G. Abdelsalam +22 more
2018Clinical Genetics51 citations
Semantic Scholar
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus
A. Carbonella, Giorgia Mancano, E. Gremese, F. Alkuraya +3 more
2017Lupus50 citations
Semantic Scholar
Genomic copy number variation in Mus musculus
M. E. O. Locke, M. Milojevic, Susan T Eitutis, N. Patel +3 more
2015BMC Genomics50 citations Open access
Semantic Scholar
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
V. Chelban, N. Patel, J. Vandrovcova, M. N. Zanetti +12 more
2017American Journal of Human Genetics47 citations Open access
Semantic Scholar
Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations, and clinical studies
G. Unlu, Xinzi Qi, E. Gamazon, D. Melville +9 more
2020Nature Medicine46 citations Open access
Semantic Scholar
An alternative method to dithiothreitol treatment for antibody screening in patients receiving daratumumab
A. Schmidt, Scott A. Kirkley, N. Patel, D. Masel +3 more
2015Transfusion43 citations
Semantic Scholar
Congenital glaucoma and CYP1B1: an old story revisited
H. Alsaif, Arif O. Khan, N. Patel, H. Alkuraya +5 more
2018Human Genetics42 citations
Semantic Scholar
ADAT3‐related intellectual disability: Further delineation of the phenotype
A. El-Hattab, M. Saleh, A. Hashem, M. Al-Owain +9 more
2016American Journal of Medical Genetics. Part A40 citations
Semantic Scholar
Outcomes associated with apixaban vs warfarin in patients with renal dysfunction.
Claudia Hanni, E. Petrovitch, Mona A. Ali, Whitney Gibson +8 more
2020Blood Advances39 citations Open access
Semantic Scholar
EndoBarrier®: a Safe and Effective Novel Treatment for Obesity and Type 2 Diabetes?
N. Patel, A. Mohanaruban, H. Ashrafian, C. L. le Roux +5 more
2018Obesity Surgery37 citations Open access
Semantic Scholar
Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles
N. Patel, M. El Mouzan, S. Al-Mayouf, N. Adly +7 more
2014Gut37 citations
Semantic Scholar
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans
R. Shaheen, S. Alsahli, N. Ewida, F. Alzahrani +15 more
2020Hepatology35 citations Open access
Semantic Scholar
Assessing the effect of providing a pharmacist with patient diagnosis on electronic prescription orders: a pilot study.
T. Warholak, M. Rupp, S. Leal, Guntur Kurniawan +1 more
2014Research in Social and Administrative Pharmacy31 citations
Semantic Scholar
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).
N. Patel, Laura L. Smith, E. Faqeih, Jawahir Y. Mohamed +2 more
2014Human Molecular Genetics25 citations Open access
Semantic Scholar
Hospitalized Patients Frequently Unaware of Their Chronic Kidney Disease
M. Saunders, Sharon Kim, N. Patel, D. Meltzer +1 more
2015Journal of Hospital Medicine24 citations Open access
Semantic Scholar
Incidence of Thyroid Function Test Abnormalities in Patients Receiving Immune-Checkpoint Inhibitors for Cancer Treatment.
N. Patel, A. Oury, G. Daniels, L. Bazhenova +1 more
2018The Oncologist23 citations Open access
Semantic Scholar
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population
S. Al-Qattan, S. Wakil, S. Anazi, A. Alazami +13 more
2014Genetics in Medicine23 citations Open access
Semantic Scholar
A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation
N. Patel, Arif O. Khan, M. Al-Saif, W. Moghrabi +11 more
2017Genome Biology22 citations Open access
Semantic Scholar
CNP deficiency causes severe hypomyelinating leukodystrophy in humans
L. Alabdi, F. Al Murshedi, Alaa Elmanzalawy, Asila Al Habsi +5 more
2020Human Genetics21 citations
Semantic Scholar
The many faces of peroxisomal disorders: Lessons from a large Arab cohort
J. Alshenaifi, N. Ewida, S. Anazi, H. Shamseldin +41 more
2019Clinical Genetics21 citations
Semantic Scholar
A novel APC mutation defines a second locus for Cenani–Lenz syndrome
N. Patel, E. Faqeih, S. Anazi, Mohammad D. Alfawareh +3 more
2015Journal of Medical Genetics21 citations
Semantic Scholar
Arab founder variants: Contributions to clinical genomics and precision medicine.
L. Alabdi, S. Maddirevula, B. Aljamal, H. Hamid +44 more
2024i Medicina20 citations Open access
Semantic Scholar
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies
N. Patel, H. Alkuraya, S. S. Alzahrani, S. R. Nowailaty +19 more
2018Clinical Genetics20 citations
Semantic Scholar
Elevated Serum Amino Acids Induce a Subpopulation of Alpha Cells to Initiate Pancreatic Neuroendocrine Tumor Formation
Derek K. Smith, L. Kates, S. Durinck, N. Patel +7 more
2020Cell Reports Medicine19 citations Open access
Semantic Scholar
A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy
R. Sulaiman, N. Patel, H. Alsharif, S. Arold +1 more
2017Clinical Genetics19 citations
Semantic Scholar
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.
N. Patel, H. Shamseldin, N. Sakati, Arif O. Khan +10 more
2017American Journal of Human Genetics19 citations Open access
Semantic Scholar
Optimizing preoperative antibiotics in patients with β-lactam allergies: A role for pharmacy
Shaina Kwiatkowski, Surafel G. Mulugeta, S. Davis, Rachel M. Kenney +3 more
2021American Journal of Health-System Pharmacy18 citations Open access
Semantic Scholar
Overlap between CHARGE and Kabuki syndromes: More than an interesting clinical observation?
N. Patel, F. Alkuraya
2015American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy
W. Ramadan, N. Patel, S. Anazi, A. Kentab +9 more
2017Clinical Genetics15 citations
Semantic Scholar
Further delineation of van den Ende‐Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome
Clara C Hildebrandt, N. Patel, J. Graham, M. Bamshad +11 more
2021American Journal of Medical Genetics. Part A14 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

F. Alkuraya×37
Invite
F. Alkuraya — researcher profile on SciRah
M. Hashem×22
Invite
M. Hashem — researcher profile on SciRah
N. Ibrahim×19
Invite
N. Ibrahim — researcher profile on SciRah
F. Abdulwahab×18
Invite
F. Abdulwahab — researcher profile on SciRah

×17

Invite

R. Shaheen — researcher profile on SciRah

Invite

E. Faqeih — researcher profile on SciRah

Invite

D. Monies — researcher profile on SciRah

H. Shamseldin×13

Invite

H. Shamseldin — researcher profile on SciRah

M. Abouelhoda×13

Invite

M. Abouelhoda — researcher profile on SciRah

A. Alhashem×11

Invite

A. Alhashem — researcher profile on SciRah

Invite

S. Anazi — researcher profile on SciRah

Invite

M. Salih — researcher profile on SciRah