James R. Lupski

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 116 papers. Top paper: “Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients”.

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

The Journal of Experimental Medicine(2021)10.1084/jem.20201750

N/A

1.7DataRank · unranked

75 citations

David N. Nguyen, Chun Su, Brian E. Nolan, Amanda V. Albrecht, Suela Xhani +40 more

Excess folic acid intake increases DNA de novo point mutations

Cell Discovery(2023)10.1038/s41421-022-00512-0

N/A

1.6DataRank · unranked

40 citations

Jianfeng Xu, Ying Lin, Robert M. Cabrera, Qiuying Chen, Chaofan Zhang +10 more

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The American Journal of Human Genetics(2015)10.1016/j.ajhg.2015.06.009

N/A

0.980DataRank · unranked

687 citations

Kati J. Buckingham, Shalini N. Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D. Smith +46 more

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Genome Medicine(2024)10.1186/s13073-024-01411-7

N/A

0.474DataRank · unranked

17 citations

Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi +38 more

The Golgi complex governs natural killer cell lytic granule positioning to promote directionality in cytotoxicity

Cell Reports(2025)10.1016/j.celrep.2024.115156

N/A

0.220DataRank · unranked

3 citations

Frederique van den Haak, Alexander Frumovitz, Evelyn Hernández, Everardo Hegewisch-Solloa, Tabitha K Orange +10 more

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Genetics in Medicine(2020)10.1038/s41436-020-0897-z

N/A

0DataRank · unranked

63 citations

Qian Liu, Justyna A. Karolak, Christopher M. Grochowski, Nina Guanyi Xie, Lucia R. Wu +16 more

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Genetics in Medicine(2020)10.1038/s41436-020-0904-4

N/A

0DataRank · unranked

50 citations

Desirée E.C. Smith, Ellen Crushell, Ralf A. Husain, Gajja S. Salomons, Bader Alhaddad +35 more

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.01.007

N/A

0DataRank · unranked

52 citations

Klaudia Strucinska, Mikel Muñoz Oreja, Andrew Parrish, Richard Caswell, Karen Stals +24 more

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Human Genetics and Genomics Advances(2020)10.1016/j.xhgg.2020.100014

N/A

0DataRank · unranked

22 citations

Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Rossetti +19 more

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity

Human Molecular Genetics(2020)10.1093/hmg/ddaa237

N/A

0DataRank · unranked

19 citations

John Dronzek, Claudia Gonzaga‐Jauregui, Shek Man Chim, Saathyaki Rajamani, Samer J. Nuwayhid +20 more

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

Journal of Clinical Investigation(2020)10.1172/jci131297

N/A

0DataRank · unranked

23 citations

Lisa R. Forbes, Elif Çakan, Andrea Vega-Loza, Valentyna Kostiuk, Ravi K. Dinesh +16 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

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

Human Mutation(2020)10.1002/humu.24118

N/A

0DataRank · unranked

18 citations

Adam Hansen, Michael M. Khayat, Varuna Chander, Christopher M. Grochowski, Yunyun Jiang +21 more

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Blood(2020)10.1182/blood.2020006441

N/A

0DataRank · unranked

46 citations

M. Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio César Orellana, Grazia Fazio +29 more

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

European Journal of Human Genetics(2020)10.1038/s41431-020-0632-x

N/A

0DataRank · unranked

40 citations

Gözde Yeşil, Harikiran Nistala, Alper Gezdirici, Yavuz Bayram, Kalyan C. Nannuru +32 more

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome

Kidney International(2020)10.1016/j.kint.2020.04.045

N/A

0DataRank · unranked

35 citations

Nan Wu, Shuangshuang Dong, Ling Zhang, Yanxue Zhao, Wei‐Sheng Chen +25 more

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51003

N/A

0DataRank · unranked

30 citations

Tadahiro Mitani, Sedat Işıkay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam +19 more

Cytogenetically visible inversions are formed by multiple molecular mechanisms

Human Mutation(2020)10.1002/humu.24106

N/A

0DataRank · unranked

27 citations

Christopher M. Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M. Breman, Sau Wai Cheung +11 more

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

UNC Libraries(2020)10.17615/dqyv-bh72

N/A

0DataRank · unranked

2 citations

Patricia A. Eng, M. Lance Cooper, Jonathan S. Berg, Marwan Shinawi, Weimin He +17 more

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.05.318519

N/A

0DataRank · unranked

2 citations

Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Suk‐young Lee, Lita Duraine +13 more

Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.03.02.973909

N/A

0DataRank · unranked

1 citations

John Dronzek, Claudia Gonzaga‐Jauregui, Shek Man Chim, Saathyaki Rajamani, Samer J. Nuwayhid +20 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

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.009

N/A

0DataRank · unranked

102 citations

Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih +44 more

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2020.12.014

N/A

0DataRank · unranked

90 citations

Sen Zhao, Angad Jolly, Lianlei Wang, Hongxin Pan, Jian Yuan +72 more

Exome variant discrepancies due to reference-genome differences

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.011

N/A

0DataRank · unranked

66 citations

Moez Dawood, Michael M. Khayat, Jesse Farek, Shalini N. Jhangiani, Ziad Khan +8 more

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

Human Genetics(2021)10.1007/s00439-021-02300-4

N/A

0DataRank · unranked

44 citations

Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You, Huie Jing +25 more

Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature

Journal of genetics and genomics/Journal of Genetics and Genomics(2021)10.1016/j.jgg.2021.02.008

N/A

0DataRank · unranked

41 citations

Sen Zhao, Chenxi Yu, Di Wu, Zihui Yan, Lijun Fan +25 more

Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.07.015

N/A

0DataRank · unranked

24 citations

Olive S. Eckstein, Nitya Gulati, Erin C. Peckham‐Gregory, Nmazuo Ozuah, Joseph Lubega +26 more

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100074

N/A

0DataRank · unranked

40 citations

Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood +45 more

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

Genome Medicine(2021)10.1186/s13073-021-00873-3

N/A

0DataRank · unranked

32 citations

Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee +15 more

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01916-z

N/A

0DataRank · unranked

32 citations

Renan Paulo Martin, Sean Griffith, Eliete da S. Rodrigues, Corina Antonescu, Jennifer E. Posey +8 more

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human Mutation(2021)10.1002/humu.24206

N/A

0DataRank · unranked

31 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature

Frontiers in Pediatrics(2021)10.3389/fped.2021.673957

N/A

0DataRank · unranked

26 citations

Mabel Ladino, Katherine Aránguiz, Gonzalo P. Méndez, Zeynep Coban‐Akdemir, Bo Yuan +8 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

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

Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000589

N/A

0DataRank · unranked

16 citations

Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Shalini N. Jhangiani +9 more

Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe

Advances in Medical Sciences(2021)10.1016/j.advms.2021.02.005

N/A

0DataRank · unranked

8 citations

Justyna A. Karolak, Tomasz Gambin, Małgorzata Rydzanicz, Agata Frajdenberg, Małgorzata Mrugacz +5 more

Short stature and combined immunodeficiency associated with mutations in RGS10

Science Signaling(2021)10.1126/scisignal.abc1940

N/A

0DataRank · unranked

7 citations

Zhihui Xie, Eunice C. Chan, Bianca M. Nagata, Alexey Koval, Wei‐Sheng Chen +13 more

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency

Genetics in Medicine(2021)10.1016/j.gim.2021.10.014

N/A

0DataRank · unranked

4 citations

Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily Farrow, Isabelle Thiffault +35 more

Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant

Annals of Clinical and Translational Neurology(2021)10.1002/acn3.51454

N/A

0DataRank · unranked

2 citations

Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani +12 more

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

medRxiv(2021)10.1101/2021.07.07.21259278

N/A

0DataRank · unranked

2 citations

Mauro Longoni, Julie Wells, Richard S. Maser, Matthew J. Dysart, Hannah T. M. Contreras +33 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

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

npj Genomic Medicine(2022)10.1038/s41525-021-00273-x

N/A

0DataRank · unranked

26 citations

Shuyang Zhang, Sigrún Hallgrímsdóttir, Yuzhi Zuo, Xiaoxin Li, Dominyka Batkovskyte +31 more

Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine

Trends in Genetics(2022)10.1016/j.tig.2022.03.001

N/A

0DataRank · unranked

26 citations

James R. Lupski

Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

JCI Insight(2022)10.1172/jci.insight.154948

N/A

0DataRank · unranked

26 citations

M. Cecilia Poli, Angelo Taglialatela, Giuseppe Leuzzi, Iván K. Chinn, Sandra Andrea Salinas +9 more

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.10.007

N/A

0DataRank · unranked

26 citations

Linda M. Reis, Davut Pehli̇van, Jonathan A. Bernstein, Michael Muriello, Erin Syverson +33 more

De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Human Molecular Genetics(2022)10.1093/hmg/ddac053

N/A

0DataRank · unranked

17 citations

Patrick Rump, Di Lu, Megan R. Glassford, Jung-Wan Mok, Jawid M. Fatih +12 more

Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms

Human Molecular Genetics(2022)10.1093/hmg/ddac070

N/A

0DataRank · unranked

17 citations

Mengqi Ma, Xiao Mao, Davut Pehli̇van, Oguz Kanca, Feride Un-Candan +10 more

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.07.006

N/A

0DataRank · unranked

13 citations

Nina Kozar, Ruizhi Duan, stephen bradley, Kenji Yokochi, Fuad Al Mutairi +35 more

An ELF4 hypomorphic variant results in NK cell deficiency

JCI Insight(2022)10.1172/jci.insight.155481

N/A

0DataRank · unranked

12 citations

Emily M. Mace, Matilde Immacolata Conte, Chun Shik Park, Yu Li, Joshua I. Rosario-Sepulveda +17 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

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62727

N/A

0DataRank · unranked

8 citations

Daniel G. Calame, Gülsen Akay, Tadahiro Mitani, Jawid M. Fatih, Isabella Herman +11 more

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis

Genetics in Medicine(2022)10.1016/j.gim.2022.07.012

N/A

0DataRank · unranked

4 citations

Özgür Çoğulu, Davut Pehli̇van, Saranya Balachandran, Pedro Vallecillo-García, Christopher M. Grochowski +19 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

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

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.04.006

N/A

0DataRank · unranked

37 citations

Tanya L. Schwab, Sarah K. Macklin‐Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehli̇van +25 more

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.016

N/A

0DataRank · unranked

25 citations

Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc +59 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

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.005

N/A

0DataRank · unranked

17 citations

Davut Pehli̇van, Damián Heine‐Suñer, Karin Weiss, Thibault Coste, Markus Zweier +42 more

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.001

N/A

0DataRank · unranked

13 citations

Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame +33 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

Genetics in Medicine(2023)10.1016/j.gim.2023.100856

N/A

0DataRank · unranked

9 citations

Nicolas Chassaing, Nicola Ragge, Felix Boschann, Angelina My-Hoa Ngu, Elisabeth Meloche +49 more

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability

Brain(2023)10.1093/brain/awad124

N/A

0DataRank · unranked

13 citations

Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak +24 more

Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency

Journal of Allergy and Clinical Immunology(2023)10.1016/j.jaci.2023.09.002

N/A

0DataRank · unranked

11 citations

Emily M. Mace, Justin R. Porter, Annelise Y. Mah-Som, Allyssa L. Daugherty, Stephanie Li +13 more

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Nucleic Acids Research(2023)10.1093/nar/gkad1223

N/A

0DataRank · unranked

10 citations

Zain Dardas, Angad Jolly, Christopher M. Grochowski, Shalini N. Jhangiani, He Li +14 more

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.002

N/A

0DataRank · unranked

8 citations

Mauro Longoni, Julie Wells, Richard S. Maser, Eric L. Bogenschutz, Matthew J. Dysart +34 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

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

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

0DataRank · unranked

7 citations

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

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.01.006

N/A

0DataRank · unranked

6 citations

Marisol Cortés, Periklis Makrythanasis, Mohnish Suri, Alexander M. Taylor, Jennifer A. Sullivan +44 more

SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia

Human Genetics(2023)10.1007/s00439-023-02550-4

N/A

0DataRank · unranked

2 citations

Haowei Du, Tomasz Gambin, James R. Lupski, Pengfei Liu, Paweł Stankiewicz +1 more

SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia

Research Square(2023)10.21203/rs.3.rs-2628288/v1

N/A

0DataRank · unranked

0 citations

Haowei Du, Tomasz Gambin, Pengfei Liu, James R. Lupski, Paweł Stankiewicz +1 more

Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

Cell Genomics(2024)10.1016/j.xgen.2024.100590

N/A

0DataRank · unranked

33 citations

Jesse D. Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G. Mehaffey +22 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

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

Genome Medicine(2024)10.1186/s13073-024-01378-5

N/A

0DataRank · unranked

14 citations

Leslie Dunnington, David F. Rodriguez‐Buritica, Erica Spiegel, Francesco Brancati, Giovanna Mantovani +20 more

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.007

N/A

0DataRank · unranked

18 citations

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Nature Communications(2024)10.1038/s41467-024-51310-z

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Genetics in Medicine(2024)10.1016/j.gim.2024.101125

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medRxiv(2024)10.1101/2024.12.01.24318253

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medRxiv(2024)10.1101/2024.04.11.24305690

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bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.10.27.620363

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Journal of Allergy and Clinical Immunology(2025)10.1016/j.jaci.2025.01.030

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The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.05.014

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medRxiv(2025)10.1101/2025.08.13.25333306

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medRxiv(2025)10.64898/2025.12.01.25341387

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Science(2020)10.1126/science.aay5663

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