Pankaj B. Agrawal

Also affiliated with University of Miami, Jackson Health System, Post Graduate Institute of Medical Education and Research

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 77 papers. Top paper: “Children’s rare disease cohorts: an integrative research and clinical genomics initiative”.

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

npj Genomic Medicine(2020)10.1038/s41525-020-0137-0

N/A

1.4DataRank · unranked

69 citations

Nicholas LeCompte, Mary M. Carmack, Andrew Quitadamo, Lily Wang, Meredith Park +16 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

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

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 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

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.001

N/A

0.515DataRank · unranked

30 citations

Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance H. Rodan +25 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

Perspectives of United States neonatologists on genetic testing practices

Genetics in Medicine(2022)10.1016/j.gim.2022.02.009

N/A

0.464DataRank · unranked

21 citations

Maya C. del Rosario, Pankaj B. Agrawal, Monica H. Wojcik

Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model

JCI Insight(2022)10.1172/jci.insight.157336

N/A

0.460DataRank · unranked

12 citations

Jasmine Lin, Jeffrey J. Widrick, Shiyu Luo, Gu Li, Tracy Zhang +5 more

Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants

Genes(2023)10.3390/genes14040779

N/A

0.445DataRank · unranked

8 citations

Merhawi Ghebrelul, Casie A. Genetti, Richard S. Smith, Shira Rockowitz, Emma Deaso +6 more

Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing

Value in Health(2020)10.1016/j.jval.2020.01.017

N/A

0.416DataRank · unranked

15 citations

Dmitry Dukhovny, Kathryn A. Phillips, Alan H. Beggs, Robert C. Green, Richard B. Parad +27 more

Genomic medicine in neonatal care: progress and challenges

European Journal of Human Genetics(2023)10.1038/s41431-023-01464-z

N/A

0.396DataRank · unranked

13 citations

Pankaj B. Agrawal, Alissa M. D’Gama

De novo variants in MPP5 cause global developmental delay and behavioral changes

Human Molecular Genetics(2020)10.1093/hmg/ddaa224

N/A

0.360DataRank · unranked

10 citations

Anna R. Duncan, Raehee Park, David A. Koolen, Jiahai Shi, Seo‐Hee Cho +16 more

Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms

Journal of Medical Genetics(2022)10.1136/jmedgenet-2022-108490

N/A

0.352DataRank · unranked

6 citations

Grazia Iannello, Alicja A. Skowronski, Katelyn Dannheim, Leonard Cheung, Pankaj B. Agrawal +6 more

Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study

BMJ Open(2024)10.1136/bmjopen-2023-080529

N/A

0.334DataRank · unranked

6 citations

Sonia Hills, Jessica Douglas, Vanessa Young, Casie A. Genetti, Monica H. Wojcik +5 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

Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation

American Journal Of Pathology(2020)10.1016/j.ajpath.2020.08.012

N/A

0.292DataRank · unranked

6 citations

Jasmine Lin, Samantha M. Rosen, Tian Zhang, Shideh Kazerounian, Shiyu Luo +2 more

Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2322582121

N/A

0.292DataRank · unranked

6 citations

Oguz Kanca, Rishi V. Shridharan, Paul C. Marcogliese, Benjamin Steger, Marie Morimoto +92 more

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-022-02598-x

N/A

0.292DataRank · unranked

6 citations

Beverly M. Yashar, Undiagnosed Disease Network, Maria T. Acosta, Margaret P Adam, David R. Adams +95 more

Medical Evaluation of Unanticipated Monogenic Disease Risks Identified through Newborn Genomic Screening: Findings from the BabySeq Project

medRxiv(2022)10.1101/2022.03.18.22272284

N/A

0.241DataRank · unranked

4 citations

Nidhi Shah, Casie A. Genetti, Timothy W. Yu, Bethany Zettler, Talia S. Schwartz +13 more

Integrated multi‐omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex

Journal of Cachexia Sarcopenia and Muscle(2024)10.1002/jcsm.13470

N/A

0.241DataRank · unranked

4 citations

Jasmine Lin, Shiyu Luo, Klaus Schmitz‐Abe, Rohan Agrawal, Melissa Meng +6 more

A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapy

Med(2025)10.1016/j.medj.2025.100607

N/A

0.208DataRank · unranked

3 citations

Sara O. Vargas, Martha P. Fishman, Nicola Alesi, Seunghan Baek, Damir Khabibillin +17 more

WNT2B Deficiency Causes Increased Susceptibility to Colitis in Mice and Impairs Intestinal Epithelial Development in Humans

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.04.21.537894

N/A

0.165DataRank · unranked

2 citations

Sathuwarman Raveenthiraraj, Comfort Adegboye, Wanshu Qi, Radhika S. Khetani, Akaljot Singh +11 more

Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.10.18.562924

N/A

0.104DataRank · unranked

1 citations

Bilal K. AlWattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin +4 more

A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene

European Journal of Human Genetics(2022)10.1038/s41431-022-01137-3

N/A

0DataRank · unranked

18 citations

Jill A. Madden, Jasmine Lin, Gerard T. Berry, Monica H. Wojcik, Xuefang Zhao +5 more

The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder

Human Molecular Genetics(2022)10.1093/hmg/ddac085

N/A

0DataRank · unranked

17 citations

Mümine Şentürk, Kelly Schoch, Amanda L. Minogue, Diego Lopergolo, Chiara Fallerini +95 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

A model to implement genomic medicine in the neonatal intensive care unit

Journal of Perinatology(2022)10.1038/s41372-022-01428-z

N/A

0DataRank · unranked

16 citations

Alissa M. D’Gama, Pankaj B. Agrawal, Monica H. Wojcik

Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort

Advanced Genetics(2022)10.1002/ggn2.202200013

N/A

0DataRank · unranked

4 citations

Shira Rockowitz, Marielle Thorne, Pressley Smith, Jeanette Petit, Veronica Zehnder +9 more

Ethical implications of early genetic diagnosis in an infant with Lesch–Nyhan syndrome

Journal of Genetic Counseling(2022)10.1002/jgc4.1616

N/A

0DataRank · unranked

2 citations

Julie M. Briere, Kristen T. Leeman, Monica H. Wojcik, Pankaj B. Agrawal, Tian Zhang

Notch1-CD22-Dependent Immune Dysregulation in the SARS-CoV2-Associated Multisystem Inflammatory Syndrome in Children

(2022)10.21203/rs.3.rs-1054453/v1

N/A

0DataRank · unranked

3 citations

Mehdi Benamar, Qian Chen, Janet Chou, Amélie M. Julé, Rafik Boudra +44 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

Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.05.007

N/A

0DataRank · unranked

55 citations

Nidhi Shah, Casie A. Genetti, Timothy W. Yu, Bethany Zettler, Melissa Kurtz Uveges +12 more

High number of candidate gene variants are identified as disease‐causing in a period of 4 years

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63509

N/A

0DataRank · unranked

5 citations

Qifei Li, Jill A. Madden, Casie A. Genetti, Catherine A. Brownstein, Klaus Schmitz‐Abe +3 more

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63226

N/A

0DataRank · unranked

10 citations

Siddharth Srivastava, Pankaj B. Agrawal, Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo +35 more

Striated preferentially expressed gene deficiency leads to mitochondrial dysfunction in developing cardiomyocytes

Basic Research in Cardiology(2023)10.1007/s00395-023-01029-7

N/A

0DataRank · unranked

1 citations

He Huang, Yanshuang Wu, Chang Shu, Narae Hwang, Qifei Li +9 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

Perinatal-lethal nonimmune fetal hydrops attributed toMECOM-associated bone marrow failure

Molecular Case Studies(2023)10.1101/mcs.a006289

N/A

0DataRank · unranked

3 citations

Jill A. Madden, Christy L. Cummings, Melissa J. Rose, S. Wilson, Mari Mori +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

0DataRank · unranked

1 citations

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

Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.04.24.538136

N/A

0DataRank · unranked

0 citations

Jasmine Lin, Shiyu Luo, Klaus Schmitz‐Abe, Rohan Agrawal, Melissa Meng +6 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

WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production

Cellular and Molecular Gastroenterology and Hepatology(2024)10.1016/j.jcmgh.2024.04.006

N/A

0DataRank · unranked

12 citations

Sathuwarman Raveenthiraraj, Luiz Fernando Silva Oliveira, Comfort Adegboye, Venkata Siva Dasuri, Wanshu Qi +14 more

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

N/A

0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 more

Family genetic risk communication and reverse cascade testing in the BabySeq project

Genetics in Medicine(2024)10.1016/j.gim.2024.101350

N/A

0DataRank · unranked

3 citations

Hadley Stevens Smith, Stacey Pereira, Casie A. Genetti, Amy L. McGuire, Alan H. Beggs +38 more

“It’s hard to wait”: Provider perspectives on current genomic care in safety-net NICUs

Genetics in Medicine(2024)10.1016/j.gim.2024.101177

N/A

0DataRank · unranked

5 citations

Monica H. Wojcik, Sonia Hills, Jessica Douglas, Pankaj B. Agrawal, Tyler Allcroft +26 more

The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation

Clinica Chimica Acta(2024)10.1016/j.cca.2024.119765

N/A

0DataRank · unranked

3 citations

S.D. Rollins, Klaus Schmitz‐Abe, Amy Tam, Qifei Li, Jiahai Shi +4 more

HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells

Disease Models & Mechanisms(2024)10.1242/dmm.050557

N/A

0DataRank · unranked

3 citations

Bilal K. AlWattar, Qifei Li, Kiran Bora, Alexandra K. Blomfield, Jasmine Lin +4 more

Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit

Journal of Perinatology(2024)10.1038/s41372-024-01935-1

N/A

0DataRank · unranked

5 citations

Tina O. Findley, Rachel Hu, Zahra Khazal, Rachel Signorello, Camille Dash +6 more

The Solute Carrier Family 26 Member 9 Is a Modifier of the Rapidly Progressing Cystic Fibrosis Associated with F508del CFTR Mutations

medRxiv(2024)10.1101/2024.01.04.23300546

N/A

0DataRank · unranked

0 citations

S.D. Rollins, Klaus Schmitz‐Abe, Amy Tam, Qifei Li, Jiahai Shi +4 more

Notch3 destabilizes regulatory T cells to drive autoimmune neuroinflammation in multiple sclerosis

Immunity(2025)10.1016/j.immuni.2025.09.007

N/A

0DataRank · unranked

8 citations

Paola Contini, Klaus Schmitz‐Abe, Olga Lanzetta, Feven Getachew, Corinne Bachelin +18 more

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

Research Square(2025)10.21203/rs.3.rs-5811417/v1

N/A

0DataRank · unranked

0 citations

Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson +21 more

Unique signatures of highly constrained genes across publicly available genomic databases

Genetics in Medicine(2025)10.1016/j.gim.2025.101413

N/A

0DataRank · unranked

0 citations

Qifei Li, S. Greene, Michela Borrelli, Shiyu Luo, Madesh C. Ramesh +2 more

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100468

N/A

0DataRank · unranked

0 citations

Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson +21 more

Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape

medRxiv(2025)10.1101/2025.08.05.25330579

N/A

0DataRank · unranked

0 citations

Christina Fagerberg, Thomas Koed Doktor, Mia M. Rosenlund, Santiago M. Lumbreras, Mark Burton +70 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 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

SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins

Human Molecular Genetics(2020)10.1093/hmg/ddaa276

N/A

0DataRank · unranked

13 citations

Qifei Li, Jasmine Lin, Quinn Murphy, Isabelle Marty, Tracy Zhang +3 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

Reconsidering Genetic Testing for Neonatal Polycystic Kidney Disease

Kidney International Reports(2020)10.1016/j.ekir.2020.05.008

N/A

0DataRank · unranked

5 citations

Monica H. Wojcik, Casie A. Genetti, Thomas E. Mullen, Pankaj B. Agrawal, Deborah R. Stein +1 more

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

medRxiv(2020)10.1101/2020.09.09.20187104

N/A

0DataRank · unranked

9 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +71 more

Newborn Sequencing in Genomic Medicine and Public Health

UNC Libraries(2020)10.17615/p3y4-3s09

N/A

0DataRank · unranked

0 citations

Stacey Pereira, Sean D. Mooney, Anastasia L. Wise, Jennifer M. Puck, Timothy W. Yu +37 more

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in Medicine(2021)10.1038/s41436-021-01114-z

N/A

0DataRank · unranked

93 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +76 more

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.003

N/A

0DataRank · unranked

46 citations

Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant +34 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genetics in Medicine(2021)10.1038/s41436-021-01152-7

N/A

0DataRank · unranked

30 citations

Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London +95 more

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Genetics in Medicine(2021)10.1038/s41436-021-01216-8

N/A

0DataRank · unranked

26 citations

Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner +94 more

Neuroimaging in Kabuki syndrome and another KMT2D‐related disorder

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62450

N/A

0DataRank · unranked

14 citations

Margaret A. Kenna, Devon Barrett, Thomas E. Mullen, Olaf A. Bodamer, Pankaj B. Agrawal +3 more

Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

Journal of Medical Internet Research(2021)10.2196/21023

N/A

0DataRank · unranked

13 citations

Margaret A. Hojlo, Sampath Chennuri, Nitin Gujral, Heather Paterson, Kent A Shefchek +14 more

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100035

N/A

0DataRank · unranked

10 citations

Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz‐Abe, Morgan Danowski +17 more

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Genetics in Medicine(2021)10.1038/s41436-021-01218-6

N/A

0DataRank · unranked

17 citations

Thierry Gautier, Dana Marafi, Thomas Besnard, Marjolaine Willems, Sébastien Moutton +37 more

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

Molecular Psychiatry(2021)10.1038/s41380-021-01035-y

N/A

0DataRank · unranked

16 citations

Richard S. Smith, Lance H. Rodan, Mark Gorman, Margaret A. Hojlo, Emily A. Garvey +25 more

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Molecular Genetics & Genomic Medicine(2021)10.1002/mgg3.1809

N/A

0DataRank · unranked

14 citations

Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott +40 more

A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

PLoS Genetics(2021)10.1371/journal.pgen.1009639

N/A

0DataRank · unranked

7 citations

Michal Dibus, Alicia Casey, Christina Yee, Sara O. Vargas, Shiyu Luo +15 more

Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2020.12.30.424813

N/A

0DataRank · unranked

3 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +39 more

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Cell Reports(2022)10.1016/j.celrep.2022.110517

N/A

0DataRank · unranked

52 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +56 more

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

JAMA Neurology(2022)10.1001/jamaneurol.2022.0067

N/A

0DataRank · unranked

39 citations

John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Monica H. Wojcik +12 more

The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children

Journal of Clinical Investigation(2022)10.1172/jci163235

N/A

0DataRank · unranked

30 citations

Qian Chen, Janet Chou, Amélie M. Julé, Rafik Boudra, Paola Contini +45 more