Reza Maroofian

National Hospital for Neurology and Neurosurgery

Also affiliated with University College London

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 81 papers. Top paper: “SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma”.

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma

Investigative Ophthalmology & Visual Science(2020)10.1167/iovs.61.12.6

N/A

0.609DataRank · unranked

57 citations

Kristina N. Whisenhunt, Jing Jin, Sarah M. LaMartina, Sean M. Martin, Tomokazu Souma +28 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

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

N/A

0.578DataRank · unranked

46 citations

Carl Elias Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic +42 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

0.568DataRank · unranked

43 citations

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

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

N/A

0.546DataRank · unranked

37 citations

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

0.541DataRank · unranked

18 citations

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

0.477DataRank · unranked

23 citations

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

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

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

0.312DataRank · unranked

7 citations

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

0.269DataRank · unranked

5 citations

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

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

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

N/A

0.208DataRank · unranked

3 citations

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

0.165DataRank · unranked

2 citations

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

Domain specific phenotypic expansion associated with variants in MACF1

medRxiv(2025)10.1101/2025.06.26.25330137

N/A

0.104DataRank · unranked

1 citations

Angad Jolly, Jill A. Rosenfeld, Paulina Bahena-Carbajal, Jonathan A. Bernstein, Devon Bonner +27 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

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

0.104DataRank · unranked

1 citations

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

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

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

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

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

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

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

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

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

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

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

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

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 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

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 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

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

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

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

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

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 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

Parp1 deletion rescues cerebellar hypotrophy in xrcc1 mutant zebrafish

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.11.25.625242

N/A

0DataRank · unranked

0 citations

Deepthi Nammi, Grace A. Garrett, Gennady Margolin, Jennifer L. Sinclair, Reza Maroofian +3 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 UGGT1 variants cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.018

N/A

0DataRank · unranked

6 citations

Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay +49 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

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

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

A clinical and genotype-phenotype analysis of MACF1 variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.010

N/A

0DataRank · unranked

1 citations

Rachel Schot, Kimberly A. Aldinger, David B. Everman, Camerun Washington, Julie R. Jones +85 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

Parp1 deletion rescues cerebellar hypotrophy in xrcc1 mutant zebrafish

Scientific Reports(2025)10.1038/s41598-025-01870-x

N/A

0DataRank · unranked

0 citations

Deepthi Nammi, Grace Garrett, Gennady Margolin, Jennifer L. Sinclair, Reza Maroofian +3 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

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

Journal of Clinical Investigation(2025)10.1172/jci184474

N/A

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

N/A

0DataRank · unranked

0 citations

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

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

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

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

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

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

N/A

0DataRank · unranked

14 citations

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

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

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

Human Molecular Genetics(2020)10.1093/hmg/ddaa051

N/A

0DataRank · unranked

9 citations

Jouni Kvist, Noora Andersson, Katrin Õunap, Karit Reinson, Monica H. Wojcik +23 more

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

Clinical Genetics(2020)10.1111/cge.13877

N/A

0DataRank · unranked

11 citations

Rauan Kaiyrzhanov, Reza Maroofian, Thi Tuyet Mai Nguyen, Kamran Salayev, Ilana Chilton +7 more

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Genetics in Medicine(2020)10.1038/s41436-020-01010-y

N/A

0DataRank · unranked

37 citations

Sangmoon Lee, Rudy Fabunan, Guoliang Chai, Maha S. Zaki, Ghada M. H. Abdel‐Salam +25 more

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Brain(2020)10.1093/brain/awaa085

N/A

0DataRank · unranked

32 citations

Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tüysüz +40 more

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

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

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

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

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

N/A

0DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

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

N/A

0DataRank · unranked

34 citations

Stéphanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Alessia Nasca +35 more

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

N/A

0DataRank · unranked

41 citations

Alison M. Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas‐Franco +53 more

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

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

N/A

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N/A

0DataRank · unranked

28 citations

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