Seema R. Lalani

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

2in 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 2 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 →

Papers

Driven by 45 papers. Top paper: “Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations”.

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

1.3DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

Detection of clinically relevant exonic copy-number changes by array CGH

Human Mutation(2010)10.1002/humu.21360

N/A

0.824DataRank · unranked

242 citations

Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia M. Hixson, Amber N. Pursley +29 more

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

Genetics in Medicine(2022)10.1016/j.gim.2022.11.020

N/A

0.590DataRank · unranked

50 citations

Erica Julianne Lay, Claudia Soler‐Alfonso, Kevin E. Glinton, Kimberly Houck, Mustafa Tosur +29 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0.564DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.007

N/A

0.510DataRank · unranked

29 citations

Sen Zhao, Jefferson C. Sinson, Aleksandar Bajić, Jill A. Rosenfeld, Matthew B. Neeley +23 more

LMOD2‐related dilated cardiomyopathy presenting in late infancy

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62699

N/A

0.449DataRank · unranked

19 citations

Mahshid S. Azamian, Susan W. Denfield, William J. Dreyer, Joseph A. Spinner, Debra L. Kearney +5 more

The germline p53 activation syndrome: A new patient further refines the clinical phenotype

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62749

N/A

0.385DataRank · unranked

12 citations

Mustafa Tosur, Seema R. Lalani, Donald H. Mahoney, Alison A. Bertuch, Runjun D. Kumar

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0.360DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

Frontiers in Cell and Developmental Biology(2021)10.3389/fcell.2021.631428

N/A

0.360DataRank · unranked

10 citations

Tokiko Fukuda, Daryl A. Scott, Toru Sengoku, Kazuhiro Ogata, Annarita Nicosia +13 more

Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62967

N/A

0.312DataRank · unranked

7 citations

Linyan Meng, Pengfei Liu, Christina Y. Miyake, Kim C. Worley, Weimin He +2 more

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100345

N/A

0.292DataRank · unranked

6 citations

Raymond J. Louie, Olivia Larner, Robert G. Best, Kevin Chen, Josephine Morris +27 more

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62704

N/A

0.241DataRank · unranked

4 citations

David R. Murdock, Lindsay C. Burrage, Hongzheng Dai, Seema R. Lalani, Richard A. Lewis +10 more

Folate ameliorates arrhythmia in patient-derived TANGO2-deficient iPSC-cardiomyocytes

Research Square(2022)10.21203/rs.3.rs-1778084/v1

N/A

0.165DataRank · unranked

2 citations

Weiyi Xu, Yingqiong Cao, Andy Yu, Ji‐Eun Kim, Seema R. Lalani +2 more

Lack of Methylation Changes in GJB2 and RB1 Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss

Acta Medica Philippina(2023)10.47895/amp.v57i9.5200

N/A

0.104DataRank · unranked

1 citations

Ivana V. Yang, Talitha Karisse L. Yarza, Celina Ann M. Tobias-Grasso, Ma. Leah C. Tantoco, Elizabeth Davidson +9 more

Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement

Research Square(2023)10.21203/rs.3.rs-3699740/v1

N/A

0DataRank · unranked

3 citations

Roberta Sierra, Dan Brooks, Christopher J. Holder, Lauren Urbanski, Keila Rodriguez +19 more

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Nature Communications(2024)10.1038/s41467-023-44611-2

N/A

0DataRank · unranked

15 citations

Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David R. Bell +53 more

Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2-deficiency disorder

JCI Insight(2024)10.1172/jci.insight.171005

N/A

0DataRank · unranked

9 citations

Yingqiong Cao, Sara B. Stephens, Maria Jose Arredondo, Yifan Chen, William M. Perez +11 more

Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis

Clinical Genetics(2024)10.1111/cge.14522

N/A

0DataRank · unranked

8 citations

Roni Zemet, Matthew A. Shanahan, Brian Burnett, Elizabeth Mizerik, Jill A. Rosenfeld +5 more

Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

Human Genetics(2024)10.1007/s00439-024-02657-2

N/A

0DataRank · unranked

6 citations

Elizabeth A. Burke, Sukyeong Lee, Tanya N. Eble, Melanie O’Leary, Ikeoluwa Osei‐Owusu +18 more

Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09560-x

N/A

0DataRank · unranked

5 citations

Roberta Sierra, Daniel Brooks, Christopher J. Holder, Lauren Urbanski, Keila Rodriguez +20 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

N/A

0DataRank · unranked

4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome

Circulation Genomic and Precision Medicine(2024)10.1161/circgen.124.004614

N/A

0DataRank · unranked

4 citations

Christina Y. Miyake, Claudia Gonzaga‐Jauregui, Yuriana Aguilar-Sánchez, Mohit Hulsurkar, Satadru K. Lahiri +8 more

Improving access to exome sequencing in a medically underserved population through the Texome Project

Genetics in Medicine(2024)10.1016/j.gim.2024.101102

N/A

0DataRank · unranked

3 citations

Ryan J. German, Seema R. Lalani, Chaya N. Murali, Carlos A. Bacino, Stephanie Baskin +31 more

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

eLife(2024)10.7554/elife.95887

N/A

0DataRank · unranked

2 citations

Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo +25 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

Genomics and multiomics in the age of precision medicine

Pediatric Research(2025)10.1038/s41390-025-04021-0

N/A

0DataRank · unranked

88 citations

Seema R. Lalani, Mohan Pammi, Srinivasan Mani

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

European Journal of Human Genetics(2025)10.1038/s41431-025-01916-8

N/A

0DataRank · unranked

2 citations

Xiaonan Zhao, Nichole Owen, Tom Evans, Muriel Holder‐Espinasse, Nayana Lahiri +28 more

LONP1 Variants Are Associated With Clinically Diverse Phenotypes

Clinical Genetics(2025)10.1111/cge.70057

N/A

0DataRank · unranked

1 citations

Lu Qiao, Rebecca Hernan, David A. Sweetser, Jessica L. Waxler, Daryl A. Scott +34 more

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

medRxiv(2024)10.1101/2024.01.08.23300523

N/A

0DataRank · unranked

0 citations

Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo +25 more

Parental somatic mosaicism for CNV deletions – A need for more sensitive and precise detection methods in clinical diagnostics settings

Genomics(2020)10.1016/j.ygeno.2020.05.003

N/A

0DataRank · unranked

18 citations

Justyna A. Karolak, Christopher M. Grochowski, Theresa A. Wilson, Jill A. Rosenfeld, Carlos A. Bacino +9 more

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.019

N/A

0DataRank · unranked

25 citations

Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Mieke M. van Haelst +43 more

Loss-of-function variants inMYCBP2cause neurobehavioural phenotypes and corpus callosum defects

Brain(2022)10.1093/brain/awac364

N/A

0DataRank · unranked

39 citations

Muriel Desbois, Domnița-Valeria Rusnac, Raashda A. Sulaiman, Jill A. Rosenfeld, Seema R. Lalani +23 more

Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency

Human Mutation(2022)10.1002/humu.24332

N/A

0DataRank · unranked

16 citations

Tianyun Wang, Madelyn A. Gillentine, Tiana M. Scott, Aliska M. Berry, Mahshid S. Azamian +19 more

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.03.007

N/A

0DataRank · unranked

14 citations

Jill A. Rosenfeld, Lindsay C. Burrage, Lisa Emrick, Seema R. Lalani, Ruben Attali +7 more

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62940

N/A

0DataRank · unranked

5 citations

Isabel Haviland, Yoel Gofin, Lindsay C. Swanson, Christelle Moufawad El Achkar, John M. Schreiber +21 more

Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.02.02.478908

N/A

0DataRank · unranked

0 citations

Jill A. Rosenfeld, Lindsay C. Burrage, Lisa Emrick, Seema R. Lalani, Ruben Attali +8 more

Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum

Human Molecular Genetics(2022)10.1093/hmg/ddac252

N/A

0DataRank · unranked

0 citations

Andrea Graves, Monika Weisz‐Hubshman, Lamees Hegazy, Christina L. Magyar, Zian Liu +6 more

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.013

N/A

0DataRank · unranked

43 citations

Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood +63 more

Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63331

N/A

0DataRank · unranked

17 citations

Saad A. Ehsan, Lilei Zhang, Samuel Mackenzie, Mahshid S. Azamian, Daryl A. Scott +3 more

A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices

Genetics in Medicine Open(2023)10.1016/j.gimo.2023.100814

N/A

0DataRank · unranked

15 citations

Lindsey R. Helvaty, Ming Li, William L. Border, Sara Fitzgerald‐Butt, Vidu Garg +11 more

PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study

Circulation Genomic and Precision Medicine(2023)10.1161/circgen.122.003912

N/A

0DataRank · unranked

13 citations

Amir Nima Fatahian, Alice Chan, Jeffery Mortenson, Jennifer Osher, Bo Sun +21 more

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay

Journal of Medical Genetics(2023)10.1136/jmg-2022-109127

N/A

0DataRank · unranked

12 citations

Maryam Vaseghi‐Shanjani, Jill A. Rosenfeld, Gui Xiang Yang, Henry Y. Lu, Mehul Sharma +23 more

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

European Journal of Human Genetics(2023)10.1038/s41431-023-01451-4

N/A

0DataRank · unranked

8 citations

Xiaonan Zhao, Nichole Owen, Pamela N. Luna, Ida Vogel, Inger Lily Hjuler Dorf +27 more