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

A. Goldenberg · SciRah

Researcher profile · Semantic Scholar

A. Goldenberg

Share profile

A. Goldenberg — researcher profile on SciRah

h-index: 48
Works: 167
Citations: 7,676

Most-cited papers

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients
M. Vincent, D. Geneviève, A. Ostertag, S. Marlin +52 more
2015Genetics in Medicine156 citations Open access
Semantic Scholar
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
C. Olcese, Mitali P. Patel, A. Shoemark, S. Kiviluoto +43 more
2017Nature Communications141 citations Open access
Semantic Scholar
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
P. Fergelot, M. V. van Belzen, J. Van Gils, A. Afenjar +49 more
2016American Journal of Medical Genetics. Part A122 citations Open access
Semantic Scholar
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
P. Kuentz, J. St‐Onge, Y. Duffourd, Jean-Benoît Courcet +57 more
2017Genetics in Medicine112 citations Open access
Semantic Scholar
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11
A. Goldenberg, F. Riccardi, A. Tessier, R. Pfundt +34 more
2016American Journal of Medical Genetics. Part A93 citations
Semantic Scholar
15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes
A. Bruel, B. Franco, Y. Duffourd, J. Thevenon +48 more
2017Journal of Medical Genetics92 citations Open access
Semantic Scholar
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4
E. Sanchez, B. Laplace-Builhé, F. T. Mau-Them, E. Richard +24 more
2019Genetics in Medicine86 citations Open access
Semantic Scholar
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
M. Legendre, V. Abadie, T. Attié-Bitach, N. Philip +43 more
2017American Journal of Medical Genetics. Part C, Seminars in Medical Genetics75 citations Open access
Semantic Scholar
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
Laïla Allach El Khattabi, S. Heide, J. Caberg, J. Andrieux +40 more
2018Journal of Medical Genetics70 citations
Semantic Scholar
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
M. Doyard, Séverine Bacrot, C. Huber, M. Dirocco +16 more
2018Journal of Medical Genetics67 citations
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
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Cara M. Skraban, C. Wells, Preetha Markose, M. Cho +35 more
2017American Journal of Human Genetics58 citations Open access
Semantic Scholar
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
H. Haijes, M. Koster, H. Rehmann, Dong Li +40 more
2019American Journal of Human Genetics57 citations Open access
Semantic Scholar
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
H. Margot, Guilaine Boursier, C. Duflos, E. Sanchez +57 more
2019Genetics in Medicine57 citations Open access
Semantic Scholar
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
A. Manole, S. Efthymiou, E. O’Connor, Marisa I. Mendes +88 more
2020American Journal of Human Genetics56 citations Open access
Semantic Scholar
SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort
C. Tlemsani, A. Luscan, N. Leulliot, E. Bieth +20 more
2016Journal of Medical Genetics52 citations
Semantic Scholar
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
A. Laquérriere, Dana Jaber, E. Abiusi, J. Maluenda +87 more
2021Journal of Medical Genetics51 citations Open access
Semantic Scholar
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
Anne-Laure Mosca-Boidron, L. Gueneau, G. Huguet, A. Goldenberg +30 more
2015European Journal of Human Genetics49 citations Open access
Semantic Scholar
Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia
B. Chaumette, Vladimir Ferrafiat, A. Ambalavanan, A. Goldenberg +8 more
2018Molecular Psychiatry46 citations Open access
Semantic Scholar
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype
T. Smol, F. Petit, A. Piton, B. Keren +62 more
2018Neurogenetics41 citations Open access
Semantic Scholar
Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation.
M. Jordan, V. Carmignac, A. Sorlin, P. Kuentz +25 more
2019Journal of Investigative Dermatology40 citations Open access
Semantic Scholar
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Jérémie Courraud, Eric J Chater-Diehl, B. Durand, M. Vincent +66 more
2021Genetics in Medicine37 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
Correction: Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
M. Lefebvre, A. Dieux-Coeslier, G. Baujat, E. Schaefer +38 more
2018Journal of Medical Genetics35 citations Open access
Semantic Scholar
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene
P. Saugier-Veber, F. Marguet, F. Lecoquierre, H. Adle-Biassette +10 more
2017Acta Neuropathologica Communications35 citations Open access
Semantic Scholar
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
Nicolas Lebrun, I. Giurgea, A. Goldenberg, A. Dieux +7 more
2017European Journal of Human Genetics35 citations Open access
Semantic Scholar
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Y. Khaikin, S. Sidky, J. Abdenur, A. Anastasi +22 more
2018European journal of paediatric neurology33 citations Open access
Semantic Scholar
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
S. Nambot, L. Faivre, G. Mirzaa, J. Thevenon +60 more
2020European Journal of Human Genetics32 citations Open access
Semantic Scholar
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations
M. Lefebvre, A. Bruel, É. Tisserant, N. Bourgon +52 more
2020Journal of Medical Genetics32 citations
Semantic Scholar
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A
Simon Boussion, F. Escande, A. Jourdain, T. Smol +24 more
2020Human Mutation29 citations Open access
Semantic Scholar
IL11RA‐related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences
E. Brischoux-Boucher, A. Trimouille, G. Baujat, A. Goldenberg +12 more
2018Clinical Genetics29 citations
Semantic Scholar
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases
A. Tessier, M. Sarreau, F. Pelluard, Gwenaelle André +20 more
2016Prenatal Diagnosis29 citations
Semantic Scholar
Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome
R. Carapito, A. Goldenberg, N. Paul, A. Pichot +7 more
2016European Journal of Human Genetics29 citations Open access
Semantic Scholar
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
D. Rots, Taryn E. Jakub, Crystal Keung, A. Jackson +113 more
2023American Journal of Human Genetics28 citations Open access
Semantic Scholar
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Thomas Husson, F. Lecoquierre, K. Cassinari, C. Charbonnier +21 more
2020Translational Psychiatry28 citations Open access
Semantic Scholar
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Audrey Schalk, M. Cousin, Nikita R. Dsouza, T. Challman +68 more
2020Journal of Medical Genetics27 citations Open access
Semantic Scholar
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia
C. Michot, C. le Goff, E. Blair, P. Blanchet +20 more
2018European Journal of Human Genetics27 citations Open access
Semantic Scholar
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants
P. Gaildrat, S. Lebbah, A. Tebani, Bénédicte Sudrié-Arnaud +12 more
2017Molecular Genetics & Genomic Medicine27 citations Open access
Semantic Scholar
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
S. El Chehadeh, L. Faivre, Anne-Laure Mosca-Boidron, V. Malan +54 more
2016American Journal of Medical Genetics. Part A27 citations
Semantic Scholar
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome
M. Nizon, Marcia Henry, C. Michot, C. Baumann +24 more
2016Clinical Genetics26 citations Open access
Semantic Scholar
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
F. Tran Mau-Them, J. Delanne, A. Denommé-Pichon, H. Safraou +63 more
2023Frontiers in Genetics25 citations Open access
Semantic Scholar
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
A. Deshwar, C. Cytrynbaum, Harsha R. Murthy, Jessica Zon +41 more
2022Brain : a journal of neurology25 citations Open access
Semantic Scholar
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
H. Morsy, M. Benkirane, Elisa Calì, C. Rocca +120 more
2022Genetics in Medicine25 citations Open access
Semantic Scholar
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations
A. Jourdain, F. Petit, M. Odou, M. Balduyck +18 more
2019Human Mutation23 citations Open access
Semantic Scholar
Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
M. Nizon, J. Andrieux, C. Rooryck, M. de Blois +31 more
2015American Journal of Medical Genetics. Part A23 citations
Semantic Scholar
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes
J. Piard, B. Aral, Pierre Vabres, M. Holder-Espinasse +46 more
2015Clinical Genetics23 citations
Semantic Scholar
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
S. El Chehadeh, R. Touraine, F. Prieur, W. Reardon +39 more
2017Clinical Genetics22 citations
Semantic Scholar
Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene
C. Billon, A. Molin, C. Poirsier, A. Clémenson +29 more
2020Clinical Genetics21 citations
Semantic Scholar
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype
Ilana Chilton, V. Okur, G. Vitiello, A. Selicorni +31 more
2020American Journal of Medical Genetics. Part A21 citations Open access
Semantic Scholar
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
K. Cassinari, O. Quenez, G. Joly-Hélas, L. Beaussire +15 more
2019Clinical Chemistry19 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

L. Faivre×19
Invite
L. Faivre — researcher profile on SciRah
C. Francannet×13
Invite
C. Francannet — researcher profile on SciRah
J. Thevenon×13
Invite
J. Thevenon — researcher profile on SciRah
D. Lacombe×12
Invite
D. Lacombe — researcher profile on SciRah

C. Thauvin-Robinet

×12

Invite

C. Thauvin-Robinet — researcher profile on SciRah

Invite

B. Isidor — researcher profile on SciRah

V. Cormier-Daire×11

Invite

V. Cormier-Daire — researcher profile on SciRah

Invite

A. Guerrot — researcher profile on SciRah

Invite

G. Baujat — researcher profile on SciRah

Invite

F. Petit — researcher profile on SciRah

P. Saugier-Veber×10

Invite

P. Saugier-Veber — researcher profile on SciRah

D. Geneviève×9

Invite

D. Geneviève — researcher profile on SciRah