Shirlee Shril

Also affiliated with Harvard University, Boston Children's Museum

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 46 papers. Top paper: “De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis”.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

N/A

1.2DataRank · unranked

27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

Nature Communications(2023)10.1038/s41467-023-37985-w

N/A

1.1DataRank · unranked

51 citations

Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Dêbiec, Yang Luo +65 more

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

Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy

Journal of the American Society of Nephrology(2024)10.1681/asn.0000000501

N/A

0.709DataRank · unranked

16 citations

Andrew Beenken, Elena Martinelli, Ken Saida, Andrea L. Knob, Juntao Ke +45 more

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

Science Advances(2021)10.1126/sciadv.abe1386

N/A

0.524DataRank · unranked

32 citations

Friedhelm Hildebrandt, Thomas Forbes, Verena Klämbt, Ronen Schneider, Konstantin Deutsch +34 more

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Genetics in Medicine(2021)10.1038/s41436-021-01097-x

N/A

0.510DataRank · unranked

29 citations

Rachel Straussberg, Hind Ahmed, Amjad Khan, Songhai Tian, R. Sean Hill +28 more

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

Journal of the American Society of Nephrology(2021)10.1681/asn.2020040490

N/A

0.505DataRank · unranked

28 citations

Slim Mzoughi, Ronen Schneider, Susanne J. Kühl, Denny Schanze, Verena Klämbt +38 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

N/A

0.489DataRank · unranked

25 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

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

Science(2024)10.1126/science.adl1624

N/A

0.464DataRank · unranked

21 citations

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

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment

Kidney International(2020)10.1016/j.kint.2020.05.027

N/A

0.385DataRank · unranked

12 citations

Wenjun Jin, Anastasia Ertel, Melanie Nemitz‐Kliemchen, Nydia Panitz, Elena Hantmann +12 more

Exome analysis links kidney malformations to developmental disorders and reveals causal genes

Nature Communications(2025)10.1038/s41467-025-62319-3

N/A

0.345DataRank · unranked

9 citations

Sarath Babu Krishna Murthy, Natalie Vena, Gundula Povysil, Andrew Beenken, Miguel Verbitsky +95 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0.330DataRank · unranked

8 citations

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

Pathogenic PHIP Variants are Variably Associated With CAKUT

Kidney International Reports(2024)10.1016/j.ekir.2024.05.024

N/A

0.330DataRank · unranked

8 citations

Tobias Sieckmann, Ria Schönauer, Friederike Petzold, Johannes Münch, M. Pauly +15 more

A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62502

N/A

0.312DataRank · unranked

7 citations

Chunyan Wang, Steve Seltzsam, Sophia Schneider, Luca Schierbaum, Wilfred Wu +11 more

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62644

N/A

0.312DataRank · unranked

7 citations

Steve Seltzsam, Bixia Zheng, Chen‐Han Wilfred Wu, Camille Nicolas‐Frank, Kirollos Yousef +23 more

Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans

Nephrology Dialysis Transplantation(2020)10.1093/ndt/gfaa215

N/A

0.292DataRank · unranked

6 citations

Max Werth, Ana C. Onuchic-Whitford, Maike Getwan, Thomas M. Kitzler, Friedhelm Hildebrandt +15 more

Recessive CHRM5 variant as a potential cause of neurogenic bladder

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63241

N/A

0.241DataRank · unranked

4 citations

Luca Schierbaum, Wessel A. C. Burger, Steve Seltzsam, Chunyan Wang, Bixia Zheng +13 more

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

Genes & Diseases(2024)10.1016/j.gendis.2024.101280

N/A

0.208DataRank · unranked

3 citations

Shirlee Shril, Friedhelm Hildebrandt, Konstantin Deutsch, Kirollos Yousef, Camille Nicolas Frank +38 more

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63127

N/A

0.208DataRank · unranked

3 citations

Bixia Zheng, Lea M. Merz, Nils D. Mertens, Bshara Mansour, Chunyan Wang +10 more

Genetic Contributions to Lower Urinary Tract Dysfunction

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63859

N/A

0.165DataRank · unranked

2 citations

Steve Seltzsam, Chunyan Wang, Ted Lee, Leah Bolsius, Mohamed Shalaby +6 more

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort

Kidney International Reports(2025)10.1016/j.ekir.2025.07.011

N/A

0.104DataRank · unranked

1 citations

Mohamed A. Shalaby, Elena Zion, Ken Saida, Kirollos Yousef, Ronen Schneider +18 more

A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner

The Journal of Clinical Endocrinology & Metabolism(2022)10.1210/clinem/dgac076

N/A

0.104DataRank · unranked

1 citations

Daniel G. Bichet, Marie‐Françoise Arthus, Dervia Connaughton, Shirlee Shril, Shrikant Mane +4 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0.104DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families

Pediatric Nephrology(2023)10.1007/s00467-023-06134-2

N/A

0DataRank · unranked

5 citations

Nils D. Mertens, Ronen Schneider, Selina Hölzel, Jameela A. Kari, Sherif El Desoky +6 more

Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney

The Nephron journals/Nephron journals(2023)10.1159/000531770

N/A

0DataRank · unranked

5 citations

Sophia Schneider, Friedhelm Hildebrandt, Abdul A. Halawi, Steve Seltzsam, Chunyan Wang +10 more

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Journal of the American Society of Nephrology(2022)10.1681/asn.2022010050

N/A

0DataRank · unranked

8 citations

Friedhelm Hildebrandt, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth +28 more

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

Genetics in Medicine(2020)10.1038/s41436-020-0844-z

N/A

0DataRank · unranked

22 citations

Nina Mann, Makiko Nakayama, Dervla M. Connaughton, Rufeng Dai, Caroline M. Kolvenbach +17 more

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

European Urology Open Science(2022)10.1016/j.euros.2022.08.004

N/A

0DataRank · unranked

12 citations

Tze Yin Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum +31 more

Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis

BMC Medical Genomics(2021)10.1186/s12920-021-01116-5

N/A

0DataRank · unranked

1 citations

Isabel Ottlewski, Wasim Shehzad, Amjad Riaz, Sadaqat Ijaz, Asad Tufail +7 more

A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS

Journal of the American Society of Nephrology(2021)10.1681/asn.2020081234

N/A

0DataRank · unranked

7 citations

Susan Murray, Katherine A. Benson, Agnieszka Bierżyńska, Megan Chryst-Stangl, Liming Wang +21 more

Whole-exome sequencing identifiesFOXL2,FOXA2andFOXA3as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract

Nephrology Dialysis Transplantation(2021)10.1093/ndt/gfab253

N/A

0DataRank · unranked

11 citations

Steve Seltzsam, Chunyan Wang, Luca Schierbaum, Sophia Schneider, Chen‐Han Wilfred Wu +12 more

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

Scientific Reports(2021)10.1038/s41598-021-97046-4

N/A

0DataRank · unranked

21 citations

Naoe Harafuji, Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar +9 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

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

npj Genomic Medicine(2024)10.1038/s41525-024-00398-9

N/A

0DataRank · unranked

3 citations

Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes +66 more

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families

Human Mutation(2021)10.1002/humu.24251

N/A

0DataRank · unranked

21 citations

Intisar Al Alawi, Mohammed S. Al Riyami, Issa Al Salmi, Elisa Molinari, Eissa Faqeih +12 more

Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease

Pediatric Nephrology(2024)10.1007/s00467-024-06426-1

N/A

0DataRank · unranked

3 citations

Shirlee Shril, Bshara Mansour, Aaron Bao, Caroline M. Kolvenbach, Jameela A. Kari +5 more

Cystin gene mutations cause autosomal recessive polycystic kidney disease associated with altered Myc expression

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.02.18.946285

N/A

0DataRank · unranked

1 citations

Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar, Daniela A. Braun +7 more

Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease

Research Square(2024)10.21203/rs.3.rs-4183332/v1

N/A

0DataRank · unranked

1 citations

Shirlee Shril, Bshara Mansour, Aaron Bao, Caroline M. Kolvenbach, Sherif El Desoky +5 more

Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type

Scientific Reports(2024)10.1038/s41598-024-64883-y

N/A

0DataRank · unranked

0 citations

Nils D. Mertens, Kirollos Yousef, Ronen Schneider, Lea M. Merz, Bshara Mansour +12 more

Phenotypic quantification of Nphs1-deficient mice

Journal of Nephrology(2024)10.1007/s40620-024-01987-8

N/A

0DataRank · unranked

0 citations

Bshara Mansour, Caroline M. Kolvenbach, Friedhelm Hildebrandt, Daanya Salmanullah, Katharina Lemberg +13 more

Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics

Kidney Medicine(2024)10.1016/j.xkme.2024.100910

N/A

0DataRank · unranked

0 citations

Ana Morales, Shirlee Shril, Elizabeth Benoit, Dalia Pantel, Angie Aguilar‐González +5 more

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.008

N/A

0DataRank · unranked

34 citations

Konstantin Deutsch, Gregory J. Hoeprich, Jonathan Marquez, Tobias Hermle, Daniela A. Braun +28 more

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Kidney International Reports(2020)10.1016/j.ekir.2020.10.040

N/A

0DataRank · unranked

11 citations

Ronen Schneider, Peter F. M. van der Ven, Marvin Aßent, Keerthika Lohanadan, Verena Klämbt +24 more

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families

Genetics in Medicine(2025)10.1016/j.gim.2025.101432

N/A

0DataRank · unranked

5 citations

Caroline M. Kolvenbach, Chunyan Wang, Nils D. Mertens, Steve Seltzsam, Bshara Mansour +49 more

Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life

Acta Paediatrica(2023)10.1111/apa.16732

N/A

0DataRank · unranked

6 citations

M. Thabet, Reham Abo Elwafa, Ronen Schneider, Shirlee Shril, Friedhelm Hildebrandt +2 more