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. Mendelsohn · SciRah

Researcher profile · Semantic Scholar

N. Mendelsohn

Share profile

N. Mendelsohn — researcher profile on SciRah

h-index: 37
Works: 88
Citations: 4,849

Most-cited papers

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
G. B. Schaefer, N. Mendelsohn
2013Genetics in Medicine544 citations Open access
Semantic Scholar
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
C. Brownstein, A. Beggs, N. Homer, Barry Merriman +194 more
2014Genome Biology308 citations Open access
Semantic Scholar
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
J. Johnston, I. Olivos-Glander, C. Killoran, E. Elson +44 more
2005American Journal of Human Genetics278 citations Open access
Semantic Scholar
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
G. Schaefer, N. Mendelsohn
2008Genetics in Medicine234 citations Open access
Semantic Scholar
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease
Y. Messinger, N. Mendelsohn, W. Rhead, D. Dimmock +11 more
2012Genetics in Medicine213 citations Open access
Semantic Scholar
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
Shawna M. Pyott, T. Tran, Dru F. Leistritz, M. Pepin +11 more
2013American Journal of Human Genetics209 citations Open access
Semantic Scholar
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Magdalena Koczkowska, Yun-Jia Chen, T. Callens, Alicia Gomes +71 more
2017American Journal of Human Genetics196 citations Open access
Semantic Scholar
Genetics evaluation for the etiologic diagnosis of autism spectrum disorders
G. Schaefer, N. Mendelsohn
2008Genetics in Medicine181 citations
Semantic Scholar
Genetic Testing for Dilated Cardiomyopathy in Clinical Practice
N. Lakdawala, B. Funke, S. Baxter, Allison L. Cirino +15 more
2012Journal of Cardiac Failure168 citations Open access
Semantic Scholar
Elimination of antibodies to recombinant enzyme in Pompe's disease.
N. Mendelsohn, Y. Messinger, A. Rosenberg, P. Kishnani
2009New England Journal of Medicine141 citations Open access
Semantic Scholar
Glycemic Control in Patients with Insulinoma Treated with Everolimus
N. Mendelsohn, Y. Messinger, A. Rosenberg, P. Kishnani
2009136 citations
Semantic Scholar
Validity of Hospital Discharge Data for Identifying Infants with Cardiac Defects
Barbara K. Frohnert, R. Lussky, M. Alms, N. Mendelsohn +2 more
2005Journal of Perinatology122 citations Open access
Semantic Scholar
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Magdalena Koczkowska, T. Callens, Yun-Jia Chen, A. Gomes +104 more
2019Human Mutation118 citations Open access
Semantic Scholar
Genotype differences in cognitive functioning in Noonan syndrome
E. I. Pierpont, M. Pierpont, N. Mendelsohn, A. Roberts +2 more
2008Genes, Brain and Behavior103 citations Open access
Semantic Scholar
POGZ truncating alleles cause syndromic intellectual disability
Janson J. White, C. Beck, T. Harel, J. Posey +27 more
2016Genome Medicine95 citations Open access
Semantic Scholar
The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management
Priya S. Kishnani, A. Beckemeyer, N. Mendelsohn
2012American Journal of Medical Genetics. Part C, Seminars in Medical Genetics88 citations
Semantic Scholar
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
Magdalena Koczkowska, T. Callens, A. Gomes, A. Sharp +66 more
2018Genetics in Medicine82 citations Open access
Semantic Scholar
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey
N. Mendelsohn, P. Harmatz, O. Bodamer, B. Burton +6 more
2010Genetics in Medicine75 citations Open access
Semantic Scholar
Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome
J. Milunsky, Tom M. Maher, Ge-Ping Zhao, Zhenyuan Wang +32 more
2011American Journal of Medical Genetics. Part A72 citations Open access
Semantic Scholar
Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.
Z. Kazi, Ankit K. Desai, Kathryn Berrier, R. B. Troxler +12 more
2017JCI Insight68 citations Open access
Semantic Scholar
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
Hui Yu, V. Zhang, A. Stray-Pedersen, I. Hanson +21 more
2016Journal of Allergy and Clinical Immunology67 citations
Semantic Scholar
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry
J. Muenzer, S. Jones, A. Tylki-Szymańska, P. Harmatz +11 more
2017Orphanet Journal of Rare Diseases61 citations Open access
Semantic Scholar
A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib
Dinel Pond, Florence A. Arts, N. Mendelsohn, J. Demoulin +2 more
2017Genetics in Medicine60 citations Open access
Semantic Scholar
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature
P. Hemati, Anya Revah-Politi, H. Bassan, S. Petrovski +48 more
2018American Journal of Medical Genetics. Part A59 citations Open access
Semantic Scholar
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).
S. Jones, R. Parini, P. Harmatz, R. Giugliani +2 more
2013Molecular Genetics and Metabolism59 citations Open access
Semantic Scholar
Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
C. Lampe, A. Bosserhoff, B. Burton, R. Giugliani +5 more
2014Journal of Inherited Metabolic Disease58 citations Open access
Semantic Scholar
A novel microdeletion/microduplication syndrome of 19p13.13
M. Dolan, N. Mendelsohn, M. Pierpont, L. Schimmenti +2 more
2010Genetics in Medicine52 citations Open access
Semantic Scholar
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations
K. Aldinger, N. Mendelsohn, B. Chung, Wen-Juan Zhang +5 more
2015Journal of Medical Genetics51 citations Open access
Semantic Scholar
The Language Phenotype of Children and Adolescents With Noonan Syndrome
E. I. Pierpont, S. E. Weismer, A. Roberts, E. Tworog-Dube +3 more
2010Journal of Speech, Language and Hearing Research50 citations Open access
Semantic Scholar
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose
R. Lachman, B. Burton, L. Clarke, Scott A. Hoffinger +9 more
2014Skeletal Radiology48 citations Open access
Semantic Scholar
MKS1 regulates ciliary INPP5E levels in Joubert syndrome
G. Slaats, C. R. Isabella, H. Kroes, J. Dempsey +23 more
2015Journal of Medical Genetics47 citations Open access
Semantic Scholar
Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome
E. I. Pierpont, M. Pierpont, N. Mendelsohn, A. Roberts +3 more
2010American Journal of Medical Genetics. Part A47 citations Open access
Semantic Scholar
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.
C. Lampe, A. Atherton, B. Burton, M. Descartes +8 more
2014JIMD Reports45 citations Open access
Semantic Scholar
The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).
R. Parini, S. Jones, P. Harmatz, R. Giugliani +1 more
2013Molecular Genetics and Metabolism44 citations Open access
Semantic Scholar
Genomic Analyses in Cornelia de Lange Syndrome and Related Diagnoses: Novel Candidate Genes, Genotype-Phenotype Correlations and Common Mechanisms
M. Kaur, J. Blair, B. Devkota, Sierra Fortunato +93 more
2023American Journal of Medical Genetics. Part A43 citations Open access
Semantic Scholar
Expert recommendations for the laboratory diagnosis of MPS VI.
T. Wood, O. Bodamer, M. Burin, V. D'Almeida +14 more
2012Molecular Genetics and Metabolism43 citations
Semantic Scholar
A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis‐splicing of a constitutive exon
D. Macaya, S. H. Katsanis, T. Hefferon, S. Audlin +3 more
2009American Journal of Medical Genetics. Part A38 citations
Semantic Scholar
Genetic evaluation of autism.
N. Mendelsohn, G. Schaefer
2008Seminars in Pediatric Neurology36 citations
Semantic Scholar
Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment
C. Hendriksz, J. Muenzer, A. Vanderver, J. Davis +6 more
2014Molecular Genetics and Metabolism Reports35 citations Open access
Semantic Scholar
Duplication of the distal long arm of chromosome 15: Report of three new patients and review of the literature
J. Roggenbuck, N. Mendelsohn, Beverly Tenenholz, R. Ladda +1 more
2004American Journal of Medical Genetics. Part A32 citations
Semantic Scholar
Medication adherence in Fabry patients treated with migalastat: Real world experience
S. Banugaria, S. Prater, T. T. Patel, S. Dearmey +84 more
2023Molecular Genetics and Metabolism Reports30 citations
Semantic Scholar
Detection and assessment by positron emission tomography of a genetically determined defect in myocardial fatty acid utilization (long-chain acyl-CoA dehydrogenase deficiency).
D. P. Kelly, N. Mendelsohn, B. Sobel, S. R. Bergmann
1993American Journal of Cardiology29 citations
Semantic Scholar
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum
Valentina Serpieri, F. D'Abrusco, J. Dempsey, Y. H. Cheng +31 more
2021Journal of Medical Genetics28 citations Open access
Semantic Scholar
Overcoming the barriers to diagnosis of Morquio A syndrome
K. Bhattacharya, S. Balasubramaniam, Y. Choy, M. Fietz +17 more
2014Orphanet Journal of Rare Diseases28 citations Open access
Semantic Scholar
Ocular and Histologic Findings in a Series of Children with Infantile Pompe Disease Treated with Enzyme Replacement Therapy
S. Prakalapakorn, A. Proia, Tammy L. Yanovitch, S. Dearmey +3 more
2014Journal of pediatric ophthalmology and strabismus27 citations Open access
Semantic Scholar
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.
N. Mendelsohn, T. Wood, Rebecca A. Olson, R. Temme +4 more
2013JIMD Reports26 citations Open access
Semantic Scholar
The Long and Short of Genetic Counseling Summary Letters: A Case–control Study
J. Roggenbuck, R. Temme, D. Pond, J. Baker +4 more
2015Journal of Genetic Counseling23 citations
Semantic Scholar
Genotype–phenotype correlation at codon 1740 of SETD2
R. Rabin, A. Radmanesh, I. Glass, W. Dobyns +37 more
2020American Journal of Medical Genetics. Part A22 citations Open access
Semantic Scholar
Duplication of the STS region in males is a benign copy‐number variant
Aubry Furrow, A. Theisen, L. Velsher, E. Bawle +5 more
2011American Journal of Medical Genetics. Part A22 citations
Semantic Scholar
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients
Roberto Giugliani, P. Harmatz, Simon A. Jones, N. Mendelsohn +6 more
2017Molecular Genetics and Metabolism Reports20 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

P. Harmatz×7
Invite
P. Harmatz — researcher profile on SciRah
R. Giugliani×7
Invite
R. Giugliani — researcher profile on SciRah
M. Pierpont×6
Invite
M. Pierpont — researcher profile on SciRah
B. Burton×6
Invite
B. Burton — researcher profile on SciRah

×5

Invite

E. Zackai — researcher profile on SciRah

Invite

S. Jones — researcher profile on SciRah

Invite

A. Roberts — researcher profile on SciRah

Invite

R. Temme — researcher profile on SciRah

Pamela Trapane×4

Invite

Pamela Trapane — researcher profile on SciRah

Y. Messinger×4

Invite

Y. Messinger — researcher profile on SciRah

A. Rosenberg×4

Invite

A. Rosenberg — researcher profile on SciRah

Invite

Dinel Pond — researcher profile on SciRah