Henry Houlden

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 4%percentile

0.693Author DataRank

Indexed papers

3in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 3 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Large-scale genetic characterization of Parkinson’s disease in the African and African admixed populations

medRxiv(2025)10.1101/2025.01.14.25320205

Top 55%

0.301DataRank

Top 55%4 citations

Kimberly Paquette, Peter Wild Crea, Paula Saffie Awad, Charles Achoru, Funmilola Taiwo +95 more

Papers

Driven by 149 papers — median percentile 44. Top paper: “Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets”.

Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets

JAMA Neurology(2021)10.1001/jamaneurol.2020.5257

N/A

4.5DataRank · unranked

205 citations

David Zhang, Sebastian Guelfi, Claudia Manzoni, Leon Hubbard, Regina Hertfelder Reynolds +85 more

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

Nature Genetics(2014)10.1038/ng.3043

N/A

1.1DataRank · unranked

1956 citations

NeuroGenetics Research Consortium (NGRC), The Ashkenazi Jewish Dataset Investigator, Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE), Alzheimer Genetic Analysis Group, Nathan Pankratz +49 more

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

New England Journal of Medicine(2022)10.1056/nejmoa2207406

N/A

0.831DataRank · unranked

253 citations

Matt C. Danzi, Carlo Wilke, M. Renaud, Sarah Fazal, Marie‐Josée Dicaire +46 more

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Nature(2023)10.1038/s41586-023-06034-3

N/A

0.795DataRank · unranked

199 citations

Konrad Rawlik, Andrew D. Bretherick, Ting Qi, Yang Wu, Isar Nassiri +3013 more

NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations

medRxiv(2023)10.1101/2023.11.06.23298176

N/A

0.658DataRank · unranked

23 citations

Faraz Faghri, Elisa Majounie, Mathew J. Koretsky, Jeffrey Kim, Kristin Levine +29 more

Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

npj Parkinson s Disease(2024)10.1038/s41531-024-00677-3

N/A

0.612DataRank · unranked

58 citations

Sara Sambin, Baptiste Crinière‐Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse +49 more

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature Communications(2021)10.1038/s41467-021-22627-w

N/A

0.598DataRank · unranked

53 citations

Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee +65 more

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

Nature Genetics(2024)10.1038/s41588-024-01808-5

N/A

0.533DataRank · unranked

34 citations

Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung +95 more

Rare disease gene association discovery in the 100,000 GenomesProject

Nature(2025)10.1038/s41586-025-08623-w

N/A

0.515DataRank · unranked

18 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

Nature Structural & Molecular Biology(2024)10.1038/s41594-024-01423-2

N/A

0.425DataRank · unranked

16 citations

Peter Wild Crea, Daniel M. Ramos, Emil K. Gustavsson, Mandy Radefeldt, Andrey Damianov +36 more

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

EBioMedicine(2024)10.1016/j.ebiom.2024.105297

N/A

0.385DataRank · unranked

12 citations

Cesar Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli +46 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Genetics in Medicine(2024)10.1016/j.gim.2024.101273

N/A

0.373DataRank · unranked

11 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +62 more

A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.11.540430

N/A

0.345DataRank · unranked

9 citations

Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Marie‐Josée Dicaire, Stephan Züchner +18 more

GBA 1 rs3115534 Is Associated with REM Sleep Behavior Disorder in Parkinson's Disease in Nigerians

Movement Disorders(2024)10.1002/mds.29753

N/A

0.330DataRank · unranked

8 citations

Sara Bandrés‐Ciga, Mary B. Makarious, Peter Wild Crea, Dena Hernández, Henry Houlden +7 more

The Global Landscape of Genetic Variation in Parkinson’s disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance

medRxiv(2025)10.1101/2025.07.08.25330815

N/A

0.312DataRank · unranked

7 citations

Zih‐Hua Fang, Mary B. Makarious, Nicole Kuznetsov, Kajsa Brolin, Shannon Ballard +41 more

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015

N/A

0.312DataRank · unranked

7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +95 more

Large-scale genetic characterization of Parkinson’s disease in the African and African admixed populations

medRxiv(2025)10.1101/2025.01.14.25320205

Top 55%

0.301DataRank

Top 55%4 citations

Kimberly Paquette, Peter Wild Crea, Paula Saffie Awad, Charles Achoru, Funmilola Taiwo +95 more

Large-scale genetic characterization of Parkinson’s disease in the African and African admixed populations

Brain(2025)10.1093/brain/awaf379

Top 56%

0.288DataRank

Top 56%3 citations

Kimberly Paquette, Peter Wild Crea, Kathryn Step, Emily Waldo, Mathew J. Koretsky +95 more

MAPT allele and haplotype frequencies in Nigerian Africans: Population distribution and association with Parkinson's disease risk and age at onset

Parkinsonism & Related Disorders(2023)10.1016/j.parkreldis.2023.105517

N/A

0.241DataRank · unranked

4 citations

Oluwadamilola O. Ojo, Oladunni Abiodun, Sani Abubakar, Charles Achoru, Olaleye Adeniji +40 more

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients

Movement Disorders(2025)10.1002/mds.30242

N/A

0.208DataRank · unranked

3 citations

Abraham Moller, Kensuke Daida, Pilar Álvarez Jerez, Zhongbo Chen, Zachary B. Anderson +18 more

Identification of an age-related Parkinson's disease risk factor that regulates sulfur metabolism

Research Square(2021)10.21203/rs.3.rs-1168396/v1

N/A

0.208DataRank · unranked

3 citations

Shani Stern, Sara B. Linker, Diogo H. Da Silva, Nako Nakatsuka, Juliane Tampé +12 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

medRxiv(2024)10.1101/2024.01.09.23300329

N/A

0.104DataRank · unranked

1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

The Ethnic/Racial Variations of Intracerebral Hemorrhage Genetics (ERICH-GENE) Study Protocol

medRxiv(2025)10.1101/2025.06.11.25329301

Top 78%

0.104DataRank

Top 78%1 citations

Stacey Q Wolfe, Marialuisa Zedde, Rosario Pascarella, Jordi Jiménez‐Conde, Marta Vallverdú Prats +61 more

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

Brain(2024)10.1093/brain/awae363

N/A

0.104DataRank · unranked

1 citations

Elisa Calì, Reza Maroofian, Maha S. Zaki, Alistair T. Pagnamenta, Zafar Ali +51 more

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human Mutation(2021)10.1002/humu.24206

N/A

0DataRank · unranked

31 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Human Genetics(2021)10.1007/s00439-020-02254-z

N/A

0DataRank · unranked

28 citations

Neda Mazaheri, Sheng‐Jia Lin, Lucy A Dunbar, Reza Maroofian, Héla Azaiez +21 more

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.003

N/A

0DataRank · unranked

23 citations

Sze Hwee Seet, Michael Maier, Ayşe Gürel, Ricardo Moreno Traspas, Cheryl Lee +67 more

Two novel bi‐allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62221

N/A

0DataRank · unranked

18 citations

Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Janice Yip +17 more

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.024

N/A

0DataRank · unranked

17 citations

Shabab B. Hannan, Sarah Dyack, Sara MacKay, Ulrich A. Schatz, Martin Fleger +41 more

Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis

Journal of the Neurological Sciences(2021)10.1016/j.jns.2021.118061

N/A

0DataRank · unranked

14 citations

Ramita Dewan, Andrea Cortese, Susan M. Resnick, Luigi Ferrucci, Henry Houlden +2 more

A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene

Neurobiology of Aging(2021)10.1016/j.neurobiolaging.2021.05.010

N/A

0DataRank · unranked

7 citations

Conor Fearon, Christopher McGuigan, Terri McVeigh, Henry Houlden, James M. Polke +12 more

Recapitulation of Endogenous 4R Tau Expression and Formation of Insoluble Tau in Directly Reprogrammed Human Neurons

SSRN Electronic Journal(2021)10.2139/ssrn.3899434

N/A

0DataRank · unranked

6 citations

Chihiro Sato, Elena Ficulle, Anan Yu, Kanta Horie, Nicolas R. Barthélemy +9 more

Recapitulation of endogenous 4R tau expression and formation of insoluble tau in directly reprogrammed human neurons

Cell stem cell(2022)10.1016/j.stem.2022.04.018

N/A

0DataRank · unranked

64 citations

Chihiro Sato, Elena Ficulle, Anan Yu, Kanta Horie, Ji‐Sun Kwon +11 more

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Genetics in Medicine(2022)10.1016/j.gim.2022.11.001

N/A

0DataRank · unranked

30 citations

Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhaş, Melis Köse +17 more

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

Brain(2022)10.1093/brain/awac391

N/A

0DataRank · unranked

24 citations

Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang +29 more

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Genetics in Medicine(2022)10.1016/j.gim.2022.09.010

N/A

0DataRank · unranked

39 citations

Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi +82 more

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

Genetics in Medicine(2022)10.1016/j.gim.2022.08.019

N/A

0DataRank · unranked

30 citations

Ariel Ruiz, Maike F. Dohrn, Melanie Wayand, Amjad Farooq, Matt C. Danzi +14 more

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51634

N/A

0DataRank · unranked

24 citations

Joshua G. Pemberton, Elizabeth Ferrer, Tony Yammine, Chantal Farra, Mohammad Hasan Mohammadi +13 more

Integrin α7 Mutations Are Associated With Adult‐Onset Cardiac Dysfunction in Humans and Mice

Journal of the American Heart Association(2022)10.1161/jaha.122.026494

N/A

0DataRank · unranked

21 citations

Andreia M. Nunes, Ariany Oliveira‐Santos, Marisela Dagda, Tatiana M. Fontelonga, Pamela Barraza‐Flores +19 more

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

Brain(2022)10.1093/brain/awac074

N/A

0DataRank · unranked

15 citations

J. Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg‐Didinger, Leila Motlagh Scholle +24 more

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Annals of Neurology(2022)10.1002/ana.26381

N/A

0DataRank · unranked

9 citations

Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih +60 more

Genome-Wide Association Study of Clinical Outcome After Aneurysmal Subarachnoid Haemorrhage: Protocol

Translational Stroke Research(2022)10.1007/s12975-021-00978-2

N/A

0DataRank · unranked

9 citations

Sheila Alexander, Mark K. Bakker, Hemant Bhagat, Philippe Bijlenga, Spiros Blackburn +20 more

Genome-Wide Association Study of Clinical Outcome After Aneurysmal Subarachnoid Haemorrhage: Protocol

Archive ouverte UNIGE (University of Geneva)(2022)10.60692/5zjq4-59q17

N/A

0DataRank · unranked

8 citations

Sheila Alexander, Mark K. Bakker, Hemant Bhagat, Philippe Bijlenga, Spiros Blackburn +20 more

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

medRxiv(2022)10.1101/2022.08.09.22278430

N/A

0DataRank · unranked

1 citations

Yijing Zhou, Qian Yang, Chul‐Hwan Lee, Paula Espana-Bonilla, Shuo Zhang +48 more

APOE E4 is associated with cognitive decline but not with disease risk or age of onset in Nigerians with Parkinson’s disease

Research Square(2022)10.21203/rs.3.rs-1753416/v1

N/A

0DataRank · unranked

1 citations

Olaitan Okunoye, Oluwadamilola O. Ojo, Babawale Arabambi, Rufus Akinyemi, Godwin Osaigbovo +47 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A -related developmental and epileptic encephalopathy

medRxiv(2022)10.1101/2022.08.23.22278845

N/A

0DataRank · unranked

0 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Levesque +80 more

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Nature Genetics(2023)10.1038/s41588-023-01323-z

N/A

0DataRank · unranked

291 citations

Sally Mortlock, Marzieh Ghiasi, Peter Möller, Lilja Stefánsdóttir, Geneviève Galarneau +95 more

Uncovering spatiotemporal patterns of atrophy in progressive supranuclear palsy using unsupervised machine learning

Brain Communications(2023)10.1093/braincomms/fcad048

N/A

0DataRank · unranked

31 citations

Cameron Shand, Emily Todd, Martina Bocchetta, David M. Cash, Lawren VandeVrede +26 more

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Brain(2023)10.1093/brain/awad427

N/A

0DataRank · unranked

23 citations

Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S. Zaki, Saeid Sadeghian +18 more

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Nature Communications(2023)10.1038/s41467-023-39645-5

N/A

0DataRank · unranked

23 citations

Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul‐Hwan Lee +95 more

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain(2023)10.1093/brain/awad380

N/A

0DataRank · unranked

19 citations

Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin +84 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics(2023)10.1038/s41431-023-01410-z

N/A

0DataRank · unranked

10 citations

Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini +85 more

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder

Genetics in Medicine(2023)10.1016/j.gim.2023.101034

N/A

0DataRank · unranked

8 citations

Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona +28 more

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

Brain(2023)10.1093/brain/awad434

N/A

0DataRank · unranked

8 citations

Xinfu Jiao, J. Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck‐Wödl +35 more

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human Molecular Genetics(2023)10.1093/hmg/ddad124

N/A

0DataRank · unranked

7 citations

Baozhong Xin, Iris Nira Smith, Valerie Sency, Julia Szekely, Anna Alkelai +49 more

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Brain(2023)10.1093/brain/awad301

N/A

0DataRank · unranked

7 citations

Sara A. Lewis, Somayeh Bakhtiari, Sandra H. Nordlie, Alex M. Pagnozzi, Helen Magee +55 more

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Brain Communications(2023)10.1093/braincomms/fcad222

N/A

0DataRank · unranked

6 citations

Maha S. Zaki, Mohammed Al‐Owain, Mansour Y. Otaif, Adam Jackson, Emanuela Argilli +41 more

Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson’s Disease in African and African Admixed Populations

medRxiv(2023)10.1101/2023.05.05.23289529

N/A

0DataRank · unranked

18 citations

Sara Bandrés‐Ciga, Mary B. Makarious, Oluwadamilola O. Ojo, Peter Wild Crea, Oladunni Abiodun +74 more

Increased frequency of repeat expansion mutations across different populations

medRxiv(2023)10.1101/2023.07.03.23292162

N/A

0DataRank · unranked

14 citations

Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini +26 more

Endogenous recapitulation of Alzheimer’s disease neuropathology through human 3D direct neuronal reprogramming

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.24.542155

N/A

0DataRank · unranked

10 citations

Ji‐Sun Kwon, Yudong Ren, Shawei Chen, K. Lynn Cates, Xinguo Lu +16 more

A transposase-derived gene required for human brain development

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.04.28.538770

N/A

0DataRank · unranked

7 citations

Sara A. Lewis, Rodrigo Lopez Gutierrez, Makiko Yamada, Elias Rodríguez-Fos, Mercè Planas-Fèlix +36 more

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability

medRxiv(2023)10.1101/2023.05.03.23289461

N/A

0DataRank · unranked

7 citations

Paras Garg, Joke J.F.A. van Vugt, Kristina Ibáñez, Delia Gagliardi, William Lee +16 more

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

medRxiv(2023)10.1101/2023.12.20.23300294

N/A

0DataRank · unranked

3 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

The non-coding GBA1 rs3115534 variant is associated with REM sleep behavior disorder in Nigerians

medRxiv(2023)10.1101/2023.11.07.23298092

N/A

0DataRank · unranked

1 citations

Sara Bandrés‐Ciga, Mary B. Makarious, Peter Wild Crea, Dena Hernández, Henry Houlden +7 more

Attitudes of Parents of Children with Rare Neurological Disorders Toward Clinical Genetic Testing

Research Square(2023)10.21203/rs.3.rs-3266696/v1

N/A

0DataRank · unranked

0 citations

Ulviyya Guliyeva, Sugra Guliyeva, Rauan Kaiyrzhanov, Ulviyya Aslanova, Narmin Guliyeva +3 more

Increased frequency of repeat expansion mutations across different populations

Nature Medicine(2024)10.1038/s41591-024-03190-5

N/A

0DataRank · unranked

74 citations

Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini +25 more

Modeling late-onset Alzheimer’s disease neuropathology via direct neuronal reprogramming

Science(2024)10.1126/science.adl2992

N/A

0DataRank · unranked

64 citations

Ji‐Sun Kwon, Yudong Ren, Shawei Chen, Courtney K. Walker, Xinguo Lu +16 more

Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4

Movement Disorders(2024)10.1002/mds.29704

N/A

0DataRank · unranked

49 citations

Emil K. Gustavsson, Hannah Macpherson, Claire Anderson, Chris Clarkson, Clarissa Rocca +19 more

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Nature Communications(2024)10.1038/s41467-024-46354-0

N/A

0DataRank · unranked

43 citations

Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg +55 more

The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology

Nature Reviews Neurology(2024)10.1038/s41582-024-00961-z

N/A

0DataRank · unranked

43 citations

Joanne Wuu, Edward D. Huey, Corey T. McMillan, Ronald C. Petersen, Ronald B. Postuma +49 more

NeuroBooster Array: A Genome‐Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations

Movement Disorders(2024)10.1002/mds.29902

N/A

0DataRank · unranked

38 citations

Faraz Faghri, Elisa Majounie, Mathew J. Koretsky, Jeffrey Kim, Kristin Levine +29 more

Synaptic dysfunction and extracellular matrix dysregulation in dopaminergic neurons from sporadic and E326K-GBA1 Parkinson’s disease patients

npj Parkinson s Disease(2024)10.1038/s41531-024-00653-x

N/A

0DataRank · unranked

35 citations

Utkarsh Tripathi, Yara Hussein, Wote Amelo Rike, Jose Djamus, Boris Shklyar +6 more

Repeat expansion disorders

Practical Neurology(2024)10.1136/pn-2023-003938

N/A

0DataRank · unranked

22 citations

Huw R. Morris, James Polke, Nicholas Wood, Sonia Gandhi, Mina Ryten +3 more

Profiling complex repeat expansions in RFC1 in Parkinson’s disease

npj Parkinson s Disease(2024)10.1038/s41531-024-00723-0

N/A

0DataRank · unranked

20 citations

Kensuke Daida, Abigail Miano‐Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan +16 more

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

Brain(2024)10.1093/brain/awae312

N/A

0DataRank · unranked

16 citations

Jean‐Loup Méreaux, Susana Boluda, Matt C. Danzi, Marie-Josée Dicaire, Claire-Sophie Davoine +32 more

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome

Brain(2024)10.1093/brain/awae010

N/A

0DataRank · unranked

14 citations

Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L. Komdeur, Robin A Liang +24 more

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability

Nature Genetics(2024)10.1038/s41588-024-01917-1

N/A

0DataRank · unranked

11 citations

Paras Garg, Joke J.F.A. van Vugt, Kristina Ibáñez, Delia Gagliardi, William Lee +19 more

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101278

N/A

0DataRank · unranked

8 citations

Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Shamsul Ghani +55 more

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.007

N/A

0DataRank · unranked

7 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +34 more

Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism

European Journal of Human Genetics(2024)10.1038/s41431-024-01759-9

N/A

0DataRank · unranked

3 citations

Luisa Marsili, Domizia Pasquetti, Abolfazl Rad, Muhammad Nadeem Anjum, Gabriela Oprea +9 more

Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish

Brain Communications(2024)10.1093/braincomms/fcaf055

N/A

0DataRank · unranked

3 citations

Adeline Paimboeuf, Maha S. Zaki, Fernanda Barbosa Figueiredo, Sherif F. Abdel‐Ghafar, Sabrina Maher +12 more

Epigenomic and phenotypic characterization of DEGCAGS syndrome

European Journal of Human Genetics(2024)10.1038/s41431-024-01702-y

N/A

0DataRank · unranked

6 citations

Denisa Weis, Ingvild Aukrust, Tzung‐Chien Hsieh, Marie Horackova, Julie Paulsen +37 more

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Acta Neuropathologica(2024)10.1007/s00401-024-02820-z

N/A

0DataRank · unranked

6 citations

Jackie M. Casey, Samuel Crawford, Naiomi Rambarack, Ümran Yaman, Sarah Wiethoff +15 more

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

Frontiers in Molecular Neuroscience(2024)10.3389/fnmol.2024.1222935

N/A

0DataRank · unranked

5 citations

Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Marcello Scala +22 more

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Nature Communications(2024)10.1038/s41467-024-51310-z

N/A

0DataRank · unranked

5 citations

Vincent Francis, Sheng‐Jia Lin, Fares Kharfallah, Vladimir S. Fonov, Maxime Lévesque +80 more

The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder

Movement Disorders(2024)10.1002/mds.30077

N/A

0DataRank · unranked

5 citations

Pilar Álvarez Jerez, Claire Anderson, Martin Paucar, Jasmaine Lee, Daniel Nilsson +19 more

The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non‐kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient

Movement Disorders(2024)10.1002/mds.30087

N/A

0DataRank · unranked

4 citations

Н. В. Смолина, Şeyma Tekgül, Tuğçe Gül, Ahmet Yeşilyurt, Henry Houlden +5 more

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects

Brain(2024)10.1093/brain/awae299

N/A

0DataRank · unranked

3 citations

Guillermo Rodríguez Bey, Purvi Majethia, Parneet Kaur, Siddaramappa J. Patil, Minal Kekatpure +18 more

A Population‐Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank

Movement Disorders(2024)10.1002/mds.30073

N/A

0DataRank · unranked

3 citations

Zhongbo Chen, Clarissa Rocca, Bharati Jadhav, Kristina Ibáñez, Mina Ryten +4 more

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.002

N/A

0DataRank · unranked

2 citations

Sheng‐Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Aurélien Trimouille +30 more

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family

Genes(2024)10.3390/genes15091203

N/A

0DataRank · unranked

1 citations

Haseeb Anwar, Humaira Muzaffar, Valentina Turchetti, Tracy Lau, Barbara Vona +7 more

Neuroradiological findings in GAA- FGF14 ataxia (SCA27B): more than cerebellar atrophy

medRxiv(2024)10.1101/2024.02.16.24302945

N/A

0DataRank · unranked

9 citations

Catherine Ashton, Rawan Sakalla, Guillemette Clément, Sophie Planel, Céline Bonnet +22 more

An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.09.574708

N/A

0DataRank · unranked

3 citations

Leqian Yu, Barbara Vona, Dayea Park, Yulei Wei, Daniel A. Schmitz +30 more

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

medRxiv(2024)10.1101/2024.07.01.24309777

N/A

0DataRank · unranked

3 citations

Jean‐Loup Méreaux, Susana Boluda, Matt C. Danzi, Marie-Josée Dicaire, Claire-Sophie Davoine +32 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

medRxiv(2024)10.1101/2024.02.09.24302464

N/A

0DataRank · unranked

2 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +57 more

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

medRxiv(2024)10.1101/2024.08.19.24312079

N/A

0DataRank · unranked

2 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +35 more

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

medRxiv(2024)10.1101/2024.10.11.24312856

N/A

0DataRank · unranked

2 citations

Emanuela Argilli, Elizabeth George, Tuğba Kalaycı, Zehra Oya Uyguner, Birsen Karaman +21 more

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

medRxiv(2024)10.1101/2024.07.18.24310581

N/A

0DataRank · unranked

1 citations

Cailyn P Leo, Chenghong Deng, Kejia Zhang, Sheng‐Jia Lin, Reza Maroofian +75 more

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

medRxiv(2024)10.1101/2024.02.20.24302827

N/A

0DataRank · unranked

1 citations

Peter Wild Crea, Daniel M. Ramos, Emil K. Gustavsson, Mandy Radefeldt, Mary B. Makarious +33 more

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UNC Libraries(2024)10.17615/0jt9-4n49

N/A

0DataRank · unranked

0 citations

Vince D. Calhoun, Manabu Nagata, Raymond A. Poot, Aad van der Lugt, Svenja Caspers +95 more

Human TRMT1 and TRMT1L paralogs ensure the proper modification state, stability, and function of tRNAs

Cell Reports(2025)10.1016/j.celrep.2024.115092

N/A

0DataRank · unranked

16 citations

Aidan C. Manning, Jenna M. Lentini, Jonathan C. Howard, Felix Dalwigk, Reza Maroofian +12 more

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109048

N/A

0DataRank · unranked

9 citations

Brittany A. Charsar, Eline M. Hamilton, Jacqueline Erler, Virali Patel, Sarah Woidill +38 more

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

Brain(2025)10.1093/brain/awaf021

N/A

0DataRank · unranked

7 citations

Maike F. Dohrn, Riccardo Curró, Sara Negri, Petra Laššuthová, Chiara Pisciotta +76 more

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.005

N/A

0DataRank · unranked

7 citations

Leigh Demain, Alfredo Cabrera‐Orefice, Isabelle Schrauwen, Hanan E. Shamseldin, Alessandro Rea +41 more

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.019

N/A

0DataRank · unranked

5 citations

Martin D. Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Kirsten Cremer +29 more

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

Movement Disorders(2025)10.1002/mds.70058

N/A

0DataRank · unranked

4 citations

Paola Rinchetti, Mathieu Anheim, Anna Klingseisen, Ouhaïd Lagha‐Boukbiza, Zhidong Cen +15 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5

N/A

0DataRank · unranked

3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway

Brain(2025)10.1093/brain/awaf202

N/A

0DataRank · unranked

3 citations

Yuri Miyazaki, Daisuke Ishikawa, Hiroki Inahashi, Zuhair N. Al‐Hassnan, Giovanni Zifarelli +20 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Nature Communications(2025)10.1038/s41467-025-56876-w

N/A

0DataRank · unranked

2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin

Nature Communications(2025)10.1038/s41467-025-59553-0

N/A

0DataRank · unranked

2 citations

Sudipta Lahiri, Anoop Singh Chauhan, Marcos Rios Garcia, Lucy E Goodley, Thomas L. Clarke +31 more

Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia

Movement Disorders(2025)10.1002/mds.30286

N/A

0DataRank · unranked

1 citations

Juan Darío Ortigoza‐Escobar, Pooja Rohilla, Javeria Raza Alvi, Aziza Mushiba, Naif A. M. Almontashiri +5 more

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia

Movement Disorders(2025)10.1002/mds.30324

N/A

0DataRank · unranked

1 citations

Giulia Spoto, Dalila Moualek, Maha S. Zaki, Asthik Biswas, Felice D’Arco +7 more

Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia

Annals of Neurology(2025)10.1002/ana.78014

N/A

0DataRank · unranked

1 citations

Maxime Lammens, Reza Maroofian, Bakht Beland, David Murphy, Asif Mir +7 more

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency

Brain Communications(2025)10.1093/braincomms/fcaf369

N/A

0DataRank · unranked

1 citations

Lucie S Taylor, Sahar Sedighzadeh, Dalila Moualek, Mariasavina Severino, Daniel N. Grba +23 more

Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective

Pediatric Neurology(2025)10.1016/j.pediatrneurol.2025.09.019

N/A

0DataRank · unranked

1 citations

Virali Patel, Jacqueline Erler, Brittany A. Charsar, Ylenia Vaia, Anjana Sevagamoorthy +12 more

Distinct spatiotemporal atrophy patterns in corticobasal syndrome are associated with different underlying pathologies

Brain Communications(2025)10.1093/braincomms/fcaf066

N/A

0DataRank · unranked

1 citations

Cameron Shand, Emily Todd, Martina Bocchetta, Christopher Kobylecki, David M. Cash +31 more

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

Movement Disorders(2025)10.1002/mds.30249

N/A

0DataRank · unranked

1 citations

Noam Hadar, Eyal Kristal, Nicola Roberts, Vadim Dolgin, Ilana Aminov +17 more

A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance

Movement Disorders(2025)10.1002/mds.30326

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0DataRank · unranked

0 citations

Pilar Álvarez Jerez, Ulviyya Guliyeva, Jasmine Lee, Laksh Malik, Breeana Baker +9 more

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

medRxiv(2025)10.1101/2025.07.17.25331211

N/A

0DataRank · unranked

0 citations

Carlos González, Chad D. Williamson, Guy Helman, Leslie E. Sanderson, Brianna Disanza +34 more

The LRRK2 p.A419V variant associates with risk of Parkinson’s disease in the East Asian population and an evaluation on age of onset

medRxiv(2025)10.1101/2025.08.28.25333987

N/A

0DataRank · unranked

0 citations

María Teresa Periñán, Elaine Guo Yan Chew, Paul Suhwan Lee, Fulya Akçimen, Jia Lun Lim +26 more

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Seizure(2025)10.1016/j.seizure.2025.09.001

N/A

0DataRank · unranked

0 citations

Nana Nino Tatishvili, Kamran Salayev, Rauan Kaiyrzhanov, Semra Hız, Kerim Münir +6 more

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability

medRxiv(2025)10.1101/2025.10.01.25336578

N/A

0DataRank · unranked

0 citations

Stefano Facchini, Arianna Manini, Ricardo Parolin Schnekenberg, Chiara Pisciotta, Stefania Magri +37 more

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Journal of Clinical Investigation(2025)10.1172/jci184474

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0DataRank · unranked

0 citations

Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Q. Lin, J. Parmar +76 more

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.09.015

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0DataRank · unranked

0 citations

María E. Rodríguez-Ruiz, Eric N. Anderson, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría, Agatha Schlüter +41 more

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics(2025)10.1111/cge.70113

N/A

0DataRank · unranked

0 citations

Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos +15 more

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Brain(2020)10.1093/brain/awz418

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0DataRank · unranked

221 citations

Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J. Beecroft, Zane Jaunmuktane +37 more

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Nature Communications(2020)10.1038/s41467-020-18327-6

N/A

0DataRank · unranked

101 citations

Yu Kigoshi-Tansho, Roger B. Sher, Gianina Ravenscroft, Jennifer E. Stauffer, Rajesh Kumar +23 more

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Nature Communications(2020)10.1038/s41467-020-17454-4

N/A

0DataRank · unranked

88 citations

Zhen Li, David Sievert, Desirée E.C. Smith, Marisa I. Mendes, Dillon Y. Chen +10 more

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Brain(2020)10.1093/brain/awaa204

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0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Shared Genetics of Multiple System Atrophy and Inflammatory Bowel Disease

Movement Disorders(2020)10.1002/mds.28338

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0DataRank · unranked

21 citations

Sören Mucha, David Ellinghaus, Mary B. Makarious, Cornelis Blauwendraat, Ashwin Ashok Kumar Sreelatha +32 more

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

Human Genetics and Genomics Advances(2020)10.1016/j.xhgg.2020.100016

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0DataRank · unranked

14 citations

Jessica L. Giordano, Inge B. Mathijssen, Majid Mojarrad, Dorien Lugtenberg, Caitlin V. Miller +15 more

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European Journal of Human Genetics(2020)10.1038/s41431-020-00717-5

N/A

0DataRank · unranked

18 citations

Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang +42 more

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

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0DataRank · unranked

9 citations

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0DataRank · unranked

11 citations

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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.002

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0DataRank · unranked

46 citations

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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

European Journal of Human Genetics(2020)10.1038/s41431-020-0669-x

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0DataRank · unranked

36 citations

Geok Lin Chua, Cheen Fei Chin, Hessa S. Alsaif, Artem Borovikov, Saima Riazuddin +25 more

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American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61765

N/A

0DataRank · unranked

29 citations

Payam Mohassel, Lucia Laugwitz, Maha S. Zaki, Erik‐Jan Kamsteeg, Reza Maroofian +24 more

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Parkinsonism & Related Disorders(2020)10.1016/j.parkreldis.2020.08.021

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0DataRank · unranked

26 citations

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UNC Libraries(2020)10.17615/mb8t-wh97

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0DataRank · unranked

4 citations

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N/A

0DataRank · unranked

1 citations

Henry Houlden, Mary M. Reilly, Menelaos Pipis

Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.29.222828

N/A

0DataRank · unranked

3 citations

Neda Mazaheri, Sheng‐Jia Lin, Lucy A Dunbar, Reza Maroofian, Héla Azaiez +19 more

Clinical, neuroimaging and molecular spectrum of TECPR2 -associated hereditary sensory and autonomic neuropathy with intellectual disability

medRxiv(2020)10.1101/2020.10.10.20202622

N/A

0DataRank · unranked

0 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Dissecting the Phenotype and Genotype of PLA2G6‐Related Parkinsonism

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0DataRank · unranked

59 citations

Sahil Mehta, Giulia Di Lazzaro, Anna Latorre, Mark J. Edwards, Bettina Balint +20 more

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

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0DataRank · unranked

42 citations

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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.11.003

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34 citations

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RFC1-related ataxia is a mimic of early multiple system atrophy

Journal of Neurology Neurosurgery & Psychiatry(2021)10.1136/jnnp-2020-325092

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43 citations

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A form of muscular dystrophy associated with pathogenic variants in JAG2

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.020

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0DataRank · unranked

41 citations

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Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

Human Genomics(2021)10.1186/s40246-021-00342-3

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0DataRank · unranked

35 citations

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