Maha S. Zaki

Also affiliated with National Research Centre

Biochemistry, Genetics and Molecular BiologyMedicine

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 6%percentile

0.241Author DataRank

Indexed papers

1in 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 1 indexed paper 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.

A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders

Cell stem cell(2025)10.1016/j.stem.2025.10.006

Top 61%

0.241DataRank

Top 61%4 citations

Y. Nakamura, Junhao Li, David Sievert, Yang Liu, Toan D. Nguyen +16 more

Papers

Driven by 54 papers — median percentile 39. Top paper: “Genome Sequencing for Diagnosing Rare Diseases”.

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0.789DataRank · unranked

192 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

TMEM161B modulates radial glial scaffolding in neocortical development

Proceedings of the National Academy of Sciences(2023)10.1073/pnas.2209983120

N/A

0.632DataRank · unranked

16 citations

Caleb Heffner, Keng Ioi Vong, Chelsea Barrows, Yoo-Jin Ha, Sangmoon Lee +15 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 Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

New England Journal of Medicine(2021)10.1056/nejmoa2033911

N/A

0.581DataRank · unranked

47 citations

Emmanuelle Szenker‐Ravi, Changuk Chung, Zhen Li, Lu Wang, Muznah Khatoo +25 more

The contribution of de novo coding mutations to meningomyelocele

Nature(2025)10.1038/s41586-025-08676-x

N/A

0.396DataRank · unranked

13 citations

Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace +74 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

Most prominent challenges in translational neuroscience and strategic solutions to bridge the gaps: Perspectives from an editorial board interrogation

Exploration of neuroscience(2025)10.37349/en.2025.1006106

N/A

0.345DataRank · unranked

9 citations

Marco Bacigaluppi, Claudio L. Bassetti, Gabrio Bassotti, Johannes Boltze, Andrew Chan +43 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

A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders

Cell stem cell(2025)10.1016/j.stem.2025.10.006

Top 61%

0.241DataRank

Top 61%4 citations

Y. Nakamura, Junhao Li, David Sievert, Yang Liu, Toan D. Nguyen +16 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

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

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 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

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

Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63363

N/A

0DataRank · unranked

11 citations

Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Sangmoon Lee +9 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

Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS ‐related rare disease traits

Clinical Genetics(2023)10.1111/cge.14348

N/A

0DataRank · unranked

7 citations

Dana Marafi, Ahmed K. Saad, Rasha M. Elhossini, Ruizhi Duan, Karima Rafat +8 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

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Science(2024)10.1126/science.adl1624

N/A

0DataRank · unranked

21 citations

Sangmoon Lee, Kit Sing Au, T. Blaine Crowley, Valeria Capra, Meade Haller +74 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

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Brain(2020)10.1093/brain/awaa063

N/A

0DataRank · unranked

81 citations

Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki, Kevin Rostásy +27 more

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101251

N/A

0DataRank · unranked

4 citations

Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi +95 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

Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32

European Journal of Human Genetics(2024)10.1038/s41431-024-01680-1

N/A

0DataRank · unranked

8 citations

Dana Marafi, Ruizhi Duan, Jawid M. Fatih, Omnia Fathy El-Rashidy, Christopher M. Grochowski +10 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 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

Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32

Research Square(2024)10.21203/rs.3.rs-3949622/v1

N/A

0DataRank · unranked

0 citations

Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid M. Fatih, Omnia Fathy El-Rashidy +10 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

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

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

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies

Science Advances(2025)10.1126/sciadv.adw3717

N/A

0DataRank · unranked

1 citations

Erika Tavares, Katherine Bishara, Ayşegül Ozantürk, Leila Qebibo, Stephan Frangakis +25 more

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100441

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +31 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

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Neuron(2020)10.1016/j.neuron.2020.10.035

N/A

0DataRank · unranked

59 citations

A. Dinsmoor Webb, Chen Li, Danny Antaki, Sangmoon Lee, Martin W. Breuss +32 more

Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

Proceedings of the National Academy of Sciences(2020)10.1073/pnas.1908238117

N/A

0DataRank · unranked

68 citations

Lu Wang, A. Krokhotin, Jessica J. Walsh, Hongjie Li, Hirotaka Shoji +24 more

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

BMC Medical Genomics(2020)10.1186/s12920-020-0714-1

N/A

0DataRank · unranked

14 citations

Zinayida Chechlacz, Valentina Stanley, Renee D. George, Jennifer McEvoy‐Venneri, Denice Belandres +7 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

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

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 FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

Brain(2021)10.1093/brain/awab403

N/A

0DataRank · unranked

17 citations

Guoliang Chai, Pauline E. Schneeberger, Frederike L. Harms, Christian Casar, Minyue Qi +10 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

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

European Journal of Human Genetics(2021)10.1038/s41431-021-00832-x

N/A

0DataRank · unranked

11 citations

Martin W. Breuss, Zinayida Schlachetzki, Guoliang Chai, Danica Ross, Valentina Stanley +7 more

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

medRxiv(2021)10.1101/2021.03.31.21253863

N/A

0DataRank · unranked

0 citations

Sze Hwee Seet, Michael Maier, Ricardo Moreno Traspas, Cheryl Lee, Zhang Shan +42 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

Monoallelic and biallelic mutations inRELNunderlie a graded series of neurodevelopmental disorders

Brain(2022)10.1093/brain/awac164

N/A

0DataRank · unranked

22 citations

Renzo Guerrini, Charles J. Billington, A. James Barkovich, Philine Dinkel, Elena Freri +21 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

Maha S. Zaki

Indexed papers

Top data-sharing exemplar

Papers