William A. Gahl

Also affiliated with University of Puerto Rico, Medical Sciences Campus, National Human Genome Research Institute, Office of the Director, Université Bourgogne Franche-Comté, Office of the Director

MedicineBiochemistry, 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 104 papers. Top paper: “The case for open science: rare diseases”.

The case for open science: rare diseases

JAMIA Open(2020)10.1093/jamiaopen/ooaa030

N/A

2.2DataRank · unranked

63 citations

Peter N. Robinson, William A. Gahl, Paul Avillach, Gareth Baynam, Helene Cederroth +20 more

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

Genetics in Medicine(2021)10.1038/s41436-021-01259-x

N/A

1.9DataRank · unranked

56 citations

May Christine V. Malicdan, Petcharat Leoyklang, Joseph A. Shrader, Galen O. Joe, Christina Slota +17 more

Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC)

Vascular Medicine(2024)10.1177/1358863x241235669

N/A

0.525DataRank · unranked

13 citations

Cornelia Cudrici, Mahmood Rashidi, Yi‐Ping Fu, Rebecca D. Huffstutler, Katherine Carney +10 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

Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies

Kidney International Reports(2025)10.1016/j.ekir.2025.103758

N/A

0.104DataRank · unranked

1 citations

Anirban Ganguli, Jonathan Bolaños, Petcharat Leoyklang, Kenneth J. Wilkins, Yi Arial Zeng +10 more

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

Blood(2020)10.1182/blood.2020007292

N/A

0DataRank · unranked

56 citations

Julie E. Niemela, Jennifer Stoddard, Sara Ciullini Mannurita, Tala Shahin, Shubham Goel +18 more

Determination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia

Journal of Bone and Mineral Research(2020)10.1002/jbmr.4702

N/A

0DataRank · unranked

37 citations

Rachel I. Gafni, Kelly L. Roszko, Sydney M Brown, Luis F de Castro, Amanda Saikali +9 more

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.09.008

N/A

0DataRank · unranked

12 citations

Jennifer Wang, Daron L. Ross, Nicholas Balanda, Yan Huang, Rena A. Godfrey +6 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

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

PLoS Genetics(2020)10.1371/journal.pgen.1008841

N/A

0DataRank · unranked

22 citations

Aurélie Clément, Sarah J. Stednitz, Jennifer Kyle, Judy Peirce, Marcie McFadden +18 more

Nephropathic Cystinosis: A Distinct Form of CKD–Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23

Journal of the American Society of Nephrology(2020)10.1681/asn.2019111172

N/A

0DataRank · unranked

22 citations

Macarena Jiménez, Carlos R. Ferreira, Galina Nesterova, Mary Scott Roberts, Sri Harsha Tella +11 more

Defining the clinical phenotype of Saul–Wilson syndrome

Genetics in Medicine(2020)10.1038/s41436-019-0737-1

N/A

0DataRank · unranked

21 citations

Wadih M. Zein, Laryssa A. Huryn, Andrea Merker, Seth Berger, William G. Wilson +26 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

Elevated Plasma Free Sialic Acid Levels in Individuals with Reduced Glomerular Filtration Rates

Kidney360(2020)10.34067/kid.0002122020

N/A

0DataRank · unranked

6 citations

Nuria Carrillo, Kenneth J. Wilkins, J. Thomas Blake, Petcharat Leoyklang, William A. Gahl +3 more

Prevalence of Hypothyroidism in Patients With Erdheim-Chester Disease

JAMA Network Open(2020)10.1001/jamanetworkopen.2020.19169

N/A

0DataRank · unranked

10 citations

Ninet Sinaii, Jorge A. Irizarry‐Caro, William A. Gahl, Juvianee Estrada‐Veras, Rahul Dave +9 more

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12249

N/A

0DataRank · unranked

9 citations

Bobby G. Ng, Shino Shimada, Lynne A. Wolfe, David R. Adams, Undiagnosed Diseases Network +6 more

Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines

Stem Cell Research(2020)10.1016/j.scr.2020.101883

N/A

0DataRank · unranked

6 citations

Maxwell B. Sandler, Evgenia Pak, Wei Zheng, Amalia Dutra, Wendy J. Introne +3 more

Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development

Disease Models & Mechanisms(2020)10.1242/dmm.041913

N/A

0DataRank · unranked

10 citations

Tong Wang, Trevor Moreland, Rajalakshmi Veeranan‐Karmegam, Manxiu Ma, Chelsi Jeter +15 more

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61542

N/A

0DataRank · unranked

8 citations

Kyle E. Reichard, Lynne A. Wolfe, Brian P. Brooks, John J. DiGiovanna, Donald W. Hadley +7 more

Neurological manifestations of Erdheim–Chester Disease

Annals of Clinical and Translational Neurology(2020)10.1002/acn3.51014

N/A

0DataRank · unranked

45 citations

Kevin O’Brien, Neval Özkaya, Tanya Lehky, Avner Meoded, Bernadette R. Gochuico +7 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

0DataRank · unranked

42 citations

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

Inherited disorders of lysosomal membrane transporters

Biochimica et Biophysica Acta (BBA) - Biomembranes(2020)10.1016/j.bbamem.2020.183336

N/A

0DataRank · unranked

38 citations

William A. Gahl, Marjan Huizing

Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.02.005

N/A

0DataRank · unranked

24 citations

Minal Menezes, Yiran Guo, Scott McLean, Håkon Håkonarson, Felicity Collins +13 more

Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.08.006

N/A

0DataRank · unranked

24 citations

Esperanza Font–Montgomery, Linda Lukose, Joy Bryant, Peter Veppumthara, Peter L. Choyke +5 more

Aortic distensibility in alkaptonuria

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.05.006

N/A

0DataRank · unranked

2 citations

W. Patricia Bandettini, Sujata M. Shanbhag, Jeannie Yu, Kevin O’Brien, William A. Gahl +3 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

Forkhead box R1-mediated stress response linked to a case of human microcephaly and brain atrophy

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.03.366740

N/A

0DataRank · unranked

0 citations

Rui Hong, Sheng-Yong Niu, Féodora Bertherat, Lynne A. Wolfe, Christine May Malicdan +7 more

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies

Journal of Bone and Mineral Research(2021)10.1002/jbmr.4418

N/A

0DataRank · unranked

74 citations

Kristina Kintzinger, Mary E. Hackbarth, Ulrike Botschen, Yvonne Nitschke, M. Zulf Mughal +10 more

Free sialic acid storage disorder: Progress and promise

Neuroscience Letters(2021)10.1016/j.neulet.2021.135896

N/A

0DataRank · unranked

45 citations

Mary E. Hackbarth, David R. Adams, Melissa Wasserstein, Marc C. Patterson, Steven U. Walkley +11 more

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62245

N/A

0DataRank · unranked

28 citations

Carlos R. Ferreira, Catherine Groden, H Jeffrey Kim, Kelly King, Monique C. King +10 more

Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity

Hypertension(2021)10.1161/hypertensionaha.121.17624

N/A

0DataRank · unranked

28 citations

Jason C. Collins, Lynne A. Wolfe, Thomas C. Markello, David R. Adams, William A. Gahl +3 more

Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group

Orphanet Journal of Rare Diseases(2021)10.1186/s13023-021-01923-0

N/A

0DataRank · unranked

24 citations

Durhane Wong‐Rieger, Virginie Hivert, Peirong Yang, Galliano Zanello, Stephen C. Groft +1 more

FOXR1 regulates stress response pathways and is necessary for proper brain development

PLoS Genetics(2021)10.1371/journal.pgen.1009854

N/A

0DataRank · unranked

12 citations

Hannah Waxman, Rui Hong, Gavin D. Lagani, Sheng-Yong Niu, Féodora Bertherat +9 more

Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease

Cancers(2021)10.3390/cancers13164126

N/A

0DataRank · unranked

11 citations

Jorge A. Irizarry‐Caro, Ninet Sinaii, William A. Gahl, Juvianee Estrada‐Veras, Rahul Dave +7 more

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1

Neurology Genetics(2021)10.1212/nxg.0000000000000606

N/A

0DataRank · unranked

3 citations

Thomas C. Markello, Wadih M. Zein, Rachel Bishop, Catherine Groden, William A. Gahl +2 more

Survivorship Issues in Adult Patients With Histiocytic Neoplasms

Journal of the National Comprehensive Cancer Network(2021)10.6004/jnccn.2021.7096

N/A

0DataRank · unranked

3 citations

Rahul Dave, Skand Shekhar, Fady Hannah‐Shmouni, Leora E. Comis, Beth Solomon +6 more

Essential List of Medicinal Products for Rare Diseases – Recommendations from the IRDiRC Rare Disease Treatment Access Working Group

Research Square(2021)10.21203/rs.3.rs-281700/v1

N/A

0DataRank · unranked

1 citations

Durhane Wong‐Rieger, Virginie Hivert, Peirong Yang, Galliano Zanello, Stephen C. Groft +1 more

PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.01.103

N/A

0DataRank · unranked

21 citations

Andrew C. Kim, Karolyn Garcia, Lisa A. Schimmenti, Ellen F. Macnamara, Undiagnosed Diseases Network +4 more

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108177

N/A

0DataRank · unranked

21 citations

Bobby G. Ng, Amy White, Kim K. Nickander, Coleman Turgeon, Kristen Liedtke +31 more

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.06.009

N/A

0DataRank · unranked

19 citations

Christina Nießl, Dieter Haffner, Jun Oh, Christine Okorn, Katja Palm +4 more

Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.06.010

N/A

0DataRank · unranked

13 citations

Anne‐Laure Boulesteix, Jun Oh, Katja Palm, Peter Schlingmann, Simone Wygoda +27 more

MYH2-associated myopathy caused by a novel splice-site variant

Neuromuscular Disorders(2022)10.1016/j.nmd.2022.12.014

N/A

0DataRank · unranked

8 citations

May Christine V. Malicdan, Ellen F. Macnamara, Tanya Lehky, Iren Horkayne‐Szakaly, Yan Huang +6 more

A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.63045

N/A

0DataRank · unranked

6 citations

Wadih M. Zein, Robert B. Hufnagel, Christine W. Ku, Rena A. Godfrey, Lynne A. Wolfe +4 more

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome

Respiratory Research(2022)10.1186/s12931-022-02002-z

N/A

0DataRank · unranked

6 citations

Steven P. Bodine, Tadafumi Yokoyama, Nathanial J. Tolman, Michal Tyrlík, Lauren Testa +9 more

Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.31966

N/A

0DataRank · unranked

4 citations

Melissa A. Parisi, Burak Altintas, May Christine V. Malicdan, Thierry Vilboux, Jasmine Knoll +6 more

Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome

Brain(2022)10.1093/brain/awac357

N/A

0DataRank · unranked

3 citations

Thomas B. Nutman, Tory P. Johnson, Scott F. Dowell, James J. Sejvar, Michael R. Wilson +28 more

Potential therapeutic response in a severe case of autosomal dominant osteopetrosis type I

Journal of Translational Genetics and Genomics(2022)10.20517/jtgg.2021.63

N/A

0DataRank · unranked

1 citations

Elizabeth A. Burke, David R. Adams, Colleen A. Evans, Dorothy Bulas, Stuart Weinerman +7 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome

New England Journal of Medicine(2023)10.1056/nejmoa2202318

N/A

0DataRank · unranked

79 citations

Sarah A. Blackstone, Gwendolyn Clay, Rachael L. Philips, Brynja Matthiasardottir, Michele Nehrebecky +36 more

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8

Movement Disorders(2023)10.1002/mds.29654

N/A

0DataRank · unranked

24 citations

Mohamed E. Dembélé, Monnat Pongpanich, Lassana Cissé, Chalurmpon Srichomthong, Alassane Baneye Maīga +15 more

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

Frontiers in Endocrinology(2023)10.3389/fendo.2023.1166076

N/A

0DataRank · unranked

23 citations

Adrian Daly, Laura C. Hernández‐Ramírez, Elisa Araldi, Christina Tatsi, Ryan Dale +25 more

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Journal of Medical Genetics(2023)10.1136/jmg-2023-109420

N/A

0DataRank · unranked

22 citations

Elena‐Raluca Nicoli, Chulaluck Kuptanon, Joseph C. Roney, Jenny Serra‐Vinardell, Prashant Sharma +12 more

Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy

Molecular Genetics and Metabolism Reports(2023)10.1016/j.ymgmr.2023.100990

N/A

0DataRank · unranked

16 citations

Christina Deanne P. Tolete, Yan Huang, Ellen F. Macnamara, David Sept, Galina Nesterova +4 more

International Undiagnosed Diseases Programs (UDPs): components and outcomes

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-023-02966-1

N/A

0DataRank · unranked

14 citations

Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D. Botto, Ann Nordgren +3 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

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012

N/A

0DataRank · unranked

8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 more

Adult-onset neurodegeneration in XMEN disease

Journal of Neuroimmunology(2023)10.1016/j.jneuroim.2023.578251

N/A

0DataRank · unranked

4 citations

Anusha Ebrahim, Juan C. Ravell, Michael J. Lenardo, William A. Gahl, Camilo Toro +1 more

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

The Journal of Pediatrics(2023)10.1016/j.jpeds.2023.113537

N/A

0DataRank · unranked

7 citations

Jennifer L. Young, Charis Tang, Kevin Mintz, Sawyer Lucas-Griffin, AudreyStephannie Maghiro +95 more

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

Frontiers in Genetics(2023)10.3389/fgene.2023.1072784

N/A

0DataRank · unranked

6 citations

Marie Morimoto, Elena‐Raluca Nicoli, Joshi Stephen, David S. Yarnell, Heidi Dorward +10 more

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107707

N/A

0DataRank · unranked

1 citations

Amelia J. Loydpierson, Yvonne L. Latour, Precilla D’Souza, Jennifer L. Murphy, Lynne A. Wolfe +14 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

N/A

0DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 more

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

N/A

0DataRank · unranked

37 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

A deep intronic splice–altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion

Science Translational Medicine(2024)10.1126/scitranslmed.adk0845

N/A

0DataRank · unranked

12 citations

Amy P. Hsu, Andrew J. Oler, Dhaneshwar Kumar, Daniel Chauss, Jan Piet van Hamburg +44 more

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001

N/A

0DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 more

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

Genetics in Medicine(2024)10.1016/j.gim.2024.101115

N/A

0DataRank · unranked

6 citations

Lauren C. Briere, Chloe Reuter, Perman Gochyyev, Maria T. Acosta, David R. Adams +94 more

Impact of Food on the Oral Absorption of N‐Acetyl‐D‐Mannosamine in Healthy Men and Women

Clinical Pharmacology in Drug Development(2024)10.1002/cpdd.1433

N/A

0DataRank · unranked

6 citations

Gianfranco Fornasini, Tahlia R. Meola, William A. Gahl, Marjan Huizing, Thomas M. Polasek +2 more

Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features

Human Genetics(2024)10.1007/s00439-024-02708-8

N/A

0DataRank · unranked

2 citations

Jason R. McFadden, F. Graeme Frost, Thomas C. Markello, Dorothy K. Grange, Wendy J. Introne +3 more

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Genetics in Medicine(2024)10.1016/j.gim.2024.101218

N/A

0DataRank · unranked

4 citations

Kristy Jay, Alden Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +95 more

Central nervous system involvement in Erdheim-Chester disease: a magnetic resonance imaging study

Clinical Imaging(2024)10.1016/j.clinimag.2024.110281

N/A

0DataRank · unranked

3 citations

Fatemeh Dehghani Firouzabadi, Fatemeh Homayounieh, Mahshid Golagha, Fahimul Huda, Nadia Biassou +11 more

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101915

N/A

0DataRank · unranked

1 citations

Julian C. Lui, Dana Marafi, Zhi‐Jie Xia, Ruchika Bhatia, Elaine Zhou +21 more

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.008

N/A

0DataRank · unranked

3 citations

Eunjin Ryu, Benjamin Steger, Abhijit Dixit, Yoshihiko Saito, Juyeong Yoo +36 more

Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108454

N/A

0DataRank · unranked

2 citations

Mohamed A. Elmonem, Lambert van den Heuvel, William A. Gahl, Elena Levtchenko, Koenraad Veys

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.07.010

N/A

0DataRank · unranked

2 citations

Heena Patel, Siddharth Srivastava, Lindsay C. Swanson, Boris Keren, Sandra Whalen +95 more

Generation and characterization of two iPSC lines derived from subjects with Free Sialic Acid Storage Disorder (FSASD)

Stem Cell Research(2024)10.1016/j.scr.2024.103600

N/A

0DataRank · unranked

2 citations

Petcharat Leoyklang, Mary E. Hackbarth, Е. С. Пак, Amalia Dutra, Richard G. Tait +6 more

Insights into the renal pathophysiology in Hermansky‐Pudlak syndrome‐1 from urinary extracellular vesicle proteomics and a new mouse model

FEBS Letters(2024)10.1002/1873-3468.15088

N/A

0DataRank · unranked

2 citations

Bernadette R. Gochuico, Hadass Pri Chen, Christopher K. E. Bleck, Patricia M. Zerfas, Wendy J. Introne +3 more

Calciphylaxis in POEMS syndrome: Case report

Rare(2024)10.1016/j.rare.2024.100019

N/A

0DataRank · unranked

1 citations

Thomas S. Uldrick, Alina Dulau‐Florea, Colleen Evans Howe, Chyi‐Chia Richard Lee, Heidi H. Kong +2 more

Anandamide is an Early Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

medRxiv(2024)10.1101/2024.05.16.24307300

N/A

0DataRank · unranked

4 citations

Abhishek Basu, Muhammad Arif, Joshua K. Park, Charles N. Zawatsky, Ben Long G. Zuo +9 more

Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.29.577876

N/A

0DataRank · unranked

2 citations

Jaemin Kim, Yogesh K. Kushwaha, Alex Rajewski, Fabian David Nonis, Chintda Santiskulvong +17 more

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