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

R. Schnur · SciRah

Researcher profile · Semantic Scholar

R. Schnur

Share profile

R. Schnur — researcher profile on SciRah

h-index: 34
Works: 110
Citations: 3,963

Most-cited papers

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
S. Girirajan, J. Rosenfeld, Bradley P. Coe, S. Parikh +37 more
2012New England Journal of Medicine587 citations Open access
Semantic Scholar
Mutations in the evolutionarily highly conserved KEOPS complex genes cause nephrotic syndrome with microcephaly
Daniela A. Braun, Jia Rao, G. Mollet, D. Schapiro +98 more
2017Nature Genetics191 citations Open access
Semantic Scholar
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
K. Rojnueangnit, Jing Xie, A. Gomes, A. Sharp +69 more
2015Human Mutation182 citations Open access
Semantic Scholar
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Miriam Gordillo, Hugo Vega, A. Trainer, F. Hou +22 more
2008Human Molecular Genetics133 citations Open access
Semantic Scholar
Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
B. Ng, K. Hackmann, Melanie A. Jones, A. Eroshkin +11 more
2012American Journal of Human Genetics125 citations Open access
Semantic Scholar
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
B. Ballif, J. Rosenfeld, Ryan N. Traylor, A. Theisen +26 more
2011Human Genetics124 citations
Semantic Scholar
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Lot Snijders Blok, J. Rousseau, Joanna Twist, Sophie Ehresmann +75 more
2018Nature Communications104 citations Open access
Semantic Scholar
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Brieana Fregeau, B. Kim, A. Hernandez-Garcia, Valerie K. Jordan +22 more
2016American Journal of Human Genetics90 citations Open access
Semantic Scholar
Epimerase-deficiency galactosemia is not a binary condition.
K. K. Openo, Jenny M. Schulz, C. Vargas, C. Orton +13 more
2006American Journal of Human Genetics82 citations Open access
Semantic Scholar
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
P. Huppke, S. Weissbach, Joseph A. Church, R. Schnur +13 more
2017Nature Communications81 citations Open access
Semantic Scholar
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
K. Fukai, S. A. Holmes, N. Lucchese, V. Siu +3 more
1995Nature Genetics80 citations
Semantic Scholar
Haploinsufficiency of SF3B2 causes craniofacial microsomia
A. Timberlake, Ca Griffin, C. Heike, A. Hing +25 more
2021Nature Communications78 citations Open access
Semantic Scholar
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).
Seung-Taek Lee, Robert D. Nicholls, R. Schnur, L. Guida +4 more
1994Human Molecular Genetics78 citations
Semantic Scholar
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
Hugo Vega, Alison H. Trainer, Miriam Gordillo, Moira Crosier +13 more
2009Journal of Medical Genetics76 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
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
C. Curry, J. Rosenfeld, E. Grant, K. Gripp +38 more
2013American Journal of Medical Genetics. Part A65 citations Open access
Semantic Scholar
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)
R. Spritz, Jang-Kyun Oh, K. Fukai, S. A. Holmes +8 more
1997Human Mutation64 citations Open access
Semantic Scholar
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
T. Besnard, N. Sloboda, A. Goldenberg, S. Küry +35 more
2019Genetics in Medicine59 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
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
C. DeSanto, K. D’Aco, G. Araujo, N. Shannon +17 more
2015Journal of Medical Genetics58 citations
Semantic Scholar
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
D. Le Duc, C. Giulivi, S. Hiatt, Eleonora Napoli +43 more
2019Brain : a journal of neurology51 citations Open access
Semantic Scholar
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Lot Snijders Blok, J. Rousseau, Joanna Twist, Sophie Ehresmann +75 more
2018Nature Communications48 citations Open access
Semantic Scholar
Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype.
A. Payne, Albert C. Yan, Erum N. Ilyas, Weijie Li +8 more
2005Archives of Dermatology46 citations
Semantic Scholar
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
S. Donkervoort, R. Sabouny, P. Yun, L. Gauquelin +44 more
2019Acta Neuropathologica45 citations Open access
Semantic Scholar
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies
M. Krall, S. Htun, R. Schnur, A. Brooks +8 more
2019European Journal of Human Genetics42 citations Open access
Semantic Scholar
Neuropathological Findings in Eight Children with Cerebro‐oculo‐facio‐skeletal (COFS) Syndrome
M. D. Del Bigio, C. Greenberg, L. Rorke, R. Schnur +2 more
1997Journal of Neuropathology and Experimental Neurology40 citations
Semantic Scholar
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
B. Ng, E. Eklund, S. Shiryaev, Yin Dong +49 more
2020Journal of Inherited Metabolic Disease39 citations Open access
Semantic Scholar
Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia
Alison M. Muir, J. Gardner, R. V. van Jaarsveld, I. D. de Lange +52 more
2021Genetics in Medicine37 citations Open access
Semantic Scholar
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism
Akemi J. Tanaka, M. Cho, R. Willaert, K. Retterer +15 more
2017Cold Spring Harbor molecular case studies37 citations Open access
Semantic Scholar
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
A. Zawerton, C. Mignot, Ashley N. Sigafoos, P. Blackburn +81 more
2019Genetics in Medicine36 citations Open access
Semantic Scholar
Rare SUZ12 variants commonly cause an overgrowth phenotype
Sharri S. Cyrus, A. Cohen, R. Agbahovbe, K. Avela +22 more
2019American Journal of Medical Genetics. Part C, Seminars in Medical Genetics35 citations
Semantic Scholar
Reticulate hyperpigmentation.
R. Schnur, W. R. Heymann
1997Seminars in cutaneous medicine and surgery35 citations
Semantic Scholar
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Hui Guo, Qiu-Meng Zhang, Ru-Jia Dai, Bin Yu +54 more
2020American Journal of Human Genetics34 citations Open access
Semantic Scholar
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
S. Jansen, I. M. van der Werf, A. Innes, A. Afenjar +47 more
2019European Journal of Human Genetics34 citations Open access
Semantic Scholar
Magnetization transfer in the investigation of patients with tuberous sclerosis
N. Girard, R. Zimmerman, R. Schnur, J. Haselgrove +1 more
1997Neuroradiology34 citations
Semantic Scholar
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
G. Dworschak, J. Punetha, Jeshurun C. Kalanithy, E. Mingardo +62 more
2021Genetics in Medicine31 citations Open access
Semantic Scholar
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities
Lot Snijders Blok, A. Vino, J. den Hoed, H. Underhill +11 more
2020Genetics in Medicine31 citations Open access
Semantic Scholar
De Novo Missense Variants in PPP1CB Are Associated with Intellectual Disabilities and Congenital Heart Disease
Li-Jiang Ma, Y. Bayram, H. Mclaughlin, M. Cho +24 more
2016Human Genetics31 citations Open access
Semantic Scholar
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
R. Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng +55 more
2019American Journal of Human Genetics30 citations Open access
Semantic Scholar
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
N. Voisin, R. Schnur, S. Douzgou, S. Hiatt +64 more
2021American Journal of Human Genetics28 citations Open access
Semantic Scholar
Normal Tissue Depresses While Tumor Tissue Enhances Human T Cell Responses In Vivo to a Novel Self/Tumor Melanoma Antigen, OA1
C. Touloukian, W. Leitner, R. Schnur, P. Robbins +5 more
2003Journal of Immunology28 citations Open access
Semantic Scholar
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
R. Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng +55 more
2019American Journal of Human Genetics26 citations Open access
Semantic Scholar
An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ( )
D. Chitayat, P. Shannon, Tami Uster, M. Nezarati +2 more
2018American Journal of Medical Genetics. Part A26 citations
Semantic Scholar
Buschke‐Ollendorff Syndrome, Otosclerosis, and Congenital Spinal Stenosis
R. Schnur, K. Grace, A. Herzberg
1994Pediatric dermatology26 citations
Semantic Scholar
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Sakshi Singh, Aditi Gupta, M. Zech, Ashley N. Sigafoos +25 more
2020Genetics in Medicine25 citations Open access
Semantic Scholar
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
S. Küry, F. Ebstein, Alice Mollé, T. Besnard +54 more
2022American Journal of Human Genetics24 citations Open access
Semantic Scholar
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Elodie M. Richard, S. Bakhtiari, Ashley P. L. Marsh, R. Kaiyrzhanov +101 more
2021American Journal of Human Genetics24 citations Open access
Semantic Scholar
Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q
J. Pellegrino, R. Schnur, L. Boghosian-Sell, G. Strathdee +5 more
1996Human Genetics22 citations
Semantic Scholar
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
K. Smallwood, Kristin E. N. Watt, Satoru Ide, Kristina Baltrunaite +41 more
2023American Journal of Human Genetics21 citations Open access
Semantic Scholar
Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.
R. Schnur, B. Sellinger, S. A. Holmes, P. A. Wick +2 more
1996Journal of Investigative Dermatology21 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

I. Wentzensen×8
Invite
I. Wentzensen — researcher profile on SciRah
B. Keren×7
Invite
B. Keren — researcher profile on SciRah
K. McWalter×7
Invite
K. McWalter — researcher profile on SciRah
W. Chung×7
Invite
W. Chung — researcher profile on SciRah

×6

Invite

A. Begtrup — researcher profile on SciRah

Invite

M. Cho — researcher profile on SciRah

Invite

C. Nava — researcher profile on SciRah

K. V. van Gassen×6

Invite

K. V. van Gassen — researcher profile on SciRah

J. Rosenfeld×5

Invite

J. Rosenfeld — researcher profile on SciRah

Invite

D. Chitayat — researcher profile on SciRah

Invite

E. Zackai — researcher profile on SciRah

Invite

A. Innes — researcher profile on SciRah