Jill A. Rosenfeld

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 4%percentile

0.894Author DataRank

Indexed papers

4in 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 4 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 →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62919

Top 41%

0.461DataRank

Top 41%9 citations

Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda Gerard +41 more

Papers

Driven by 138 papers — median percentile 42. Top paper: “Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy”.

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Nature Genetics(2020)10.1038/s41588-020-0707-1

N/A

2.0DataRank · unranked

35 citations

Onuralp Söylemez, Aysegül Ozanturk, Niki Mourtzi, Sebastian Akle, Irwin Jungreis +16 more

Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites

Science Advances(2023)10.1126/sciadv.ade4814

N/A

1.0DataRank · unranked

34 citations

Caitlin Ford, Nathan D. Elrod, Winston Lee, Lauren C. Tang, Kai-Lieh Huang +29 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

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Human Mutation(2021)10.1002/humu.24308

N/A

0.921DataRank · unranked

20 citations

Amanda M. Levy, Jaya Punetha, Hua Gao, Nicholas Ah Mew, Kwame Anyane Yeboa +54 more

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

Journal of Clinical Investigation(2020)10.1172/jci141500

N/A

0.788DataRank · unranked

190 citations

Hongzheng Dai, Lindsay C. Burrage, Jill A. Rosenfeld, Shamika Ketkar, Michaela Müller +13 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

Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes

Nature Communications(2023)10.1038/s41467-023-40363-1

N/A

0.581DataRank · unranked

47 citations

Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon +6 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

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.002

N/A

0.561DataRank · unranked

41 citations

Lindsay C. Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco‐Sánchez, Mahim Jain +48 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

0.557DataRank · unranked

40 citations

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

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Nature Communications(2024)10.1038/s41467-024-50159-6

N/A

0.489DataRank · unranked

25 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +50 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

0.470DataRank · unranked

22 citations

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

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62919

Top 41%

0.461DataRank

Top 41%9 citations

Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda Gerard +41 more

Variants in the zinc transporterTMEM163cause a hypomyelinating leukodystrophy

Brain(2022)10.1093/brain/awac295

N/A

0.449DataRank · unranked

19 citations

Guillermo Rodríguez Bey, Bruce Nmezi, Fang Liu, Talia DeFrancesco Oranburg, Ana S.A. Cohen +13 more

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62232

N/A

0.434DataRank · unranked

17 citations

Ming‐Ming Jiang, Xiaohui Li, Ronit Marom, Hongzheng Dai, David R. Murdock +16 more

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Genetics in Medicine(2022)10.1016/j.gim.2022.05.009

N/A

0.416DataRank · unranked

15 citations

Jinwei Zhang, Thomas Besnard, Alfonso Caro‐Llopis, Xue Zeng, Stephanie M. Robert +75 more

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

bioRxiv (Cold Spring Harbor Laboratory)(2018)10.1101/362707

N/A

0.403DataRank · unranked

4 citations

Onuralp Söylemez, Aysegül Ozanturk, Sebastian Akle, Irwin Jungreis, Jean Muller +16 more

Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome gaps

Genome Research(2024)10.1101/gr.279346.124

N/A

0.396DataRank · unranked

13 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +17 more

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62976

N/A

0.385DataRank · unranked

12 citations

Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza‐Meireles +48 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Genetics in Medicine(2024)10.1016/j.gim.2024.101273

N/A

0.373DataRank · unranked

11 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +62 more

A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay

Human Mutation(2022)10.1002/humu.24497

N/A

0.292DataRank · unranked

6 citations

Wenmiao Zhu, Bo Yuan, Nicole Walley, Kelly Schoch, Yong‐hui Jiang +10 more

Variants in ALX4 and their association with genitourinary defects

Andrology(2020)10.1111/andr.12815

N/A

0.269DataRank · unranked

5 citations

Juan C. Bournat, Nathan Wilken, Jill A. Rosenfeld, Jason Zhang, Abhishek Seth +2 more

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

Genome Medicine(2025)10.1186/s13073-025-01563-0

Top 58%

0.269DataRank

Top 58%5 citations

Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy +66 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

The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.09.013

N/A

0.208DataRank · unranked

3 citations

Jefferson C. Sinson, Shenglan Li, Jill A. Rosenfeld, Gladys Zapata, Kristina Macakova +15 more

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101555

Top 70%

0.165DataRank

Top 70%2 citations

Pavla Nedbalova, Miroslava Hančárová, Jan Prchal, Darina Prchalová, Markéta Vlčková +74 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

medRxiv(2024)10.1101/2024.01.09.23300329

N/A

0.104DataRank · unranked

1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

Domain specific phenotypic expansion associated with variants in MACF1

medRxiv(2025)10.1101/2025.06.26.25330137

N/A

0.104DataRank · unranked

1 citations

Angad Jolly, Jill A. Rosenfeld, Paulina Bahena-Carbajal, Jonathan A. Bernstein, Devon Bonner +27 more

Saturation mutagenesis defines novel mouse models of severe spine deformity

Disease Models & Mechanisms(2021)10.1242/dmm.048901

N/A

0DataRank · unranked

6 citations

Kristin Denton, Hao Yu, Kandamurugu Manickam, Shannon Garner, Jamie L. Russell +8 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

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function

Human Mutation(2022)10.1002/humu.24435

N/A

0DataRank · unranked

29 citations

Barbara Vona, Hillary M. Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie +20 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

Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Brain(2022)10.1093/brain/awac145

N/A

0DataRank · unranked

36 citations

Davide Mei, Katalin Kerti‐Szigeti, Sara Pepe, Mary Kay Koenig, Gretchen Von Allmen +48 more

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

Proceedings of the National Academy of Sciences(2022)10.1073/pnas.2105228119

N/A

0DataRank · unranked

31 citations

Jiehong Pan, David R. Spielberg, Neil A. Hanchard, Daryl A. Scott, Lindsay C. Burrage +21 more

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.09.005

N/A

0DataRank · unranked

29 citations

Mengqi Ma, Xiao Mao, Carlos A. Bacino, Joseph Jankovic, V. Reid Sutton +15 more

What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?

Annual Review of Medicine(2022)10.1146/annurev-med-042120-014904

N/A

0DataRank · unranked

25 citations

Jill A. Rosenfeld, Brendan Lee, David R. Murdock

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

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.011

N/A

0DataRank · unranked

24 citations

Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard +53 more

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Genetics in Medicine(2022)10.1016/j.gim.2022.04.010

N/A

0DataRank · unranked

21 citations

Marieke Joosten, Caroline Alby, Tania Attié‐Bitach, Kelly L. Gilmore, Christèle Dubourg +50 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

Loss of WNT4 in the gubernaculum causes unilateral cryptorchidism and fertility defects

Development(2022)10.1242/dev.201093

N/A

0DataRank · unranked

10 citations

Juan C. Bournat, Olga Medina-Martínez, Armando Rivera, Joshua Moore, Hunter Flores +4 more

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62747

N/A

0DataRank · unranked

9 citations

David R. Murdock, Jill A. Rosenfeld, Hongzheng Dai, Shamika Ketkar, Lisa Emrick +10 more

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy

Journal of Personalized Medicine(2022)10.3390/jpm12050733

N/A

0DataRank · unranked

5 citations

Edward G. Jones, Amy M. Berkman, Hanna J. Tadros, Jill A. Rosenfeld, Yaping Yang +5 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

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

Rare variants in ANO1 , encoding a calcium-activated chloride channel, predispose to moyamoya disease

Brain(2023)10.1093/brain/awad172

N/A

0DataRank · unranked

26 citations

Wenlei Ye, Stuart Fraser, Jill A. Rosenfeld, Pavel N. Pichurin, Scott E. Hickey +19 more

The contribution of mosaicism to genetic diseases and de novo pathogenic variants

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63309

N/A

0DataRank · unranked

19 citations

Lisa Bastarache, Kimberly Ezell, Shilpa N. Kobren, Cecilia Esteves, Jill A. Rosenfeld +10 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 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

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

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

PLoS Genetics(2023)10.1371/journal.pgen.1011005

N/A

0DataRank · unranked

12 citations

Bo Zhang, Megan Washington, I-Wen Song, Lindsay C. Burrage, Vittoria Rossi +28 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

Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum

Genetics in Medicine(2023)10.1016/j.gim.2023.100863

N/A

0DataRank · unranked

6 citations

Ashish R. Deshwar, Harsha Murthy, Daniela D’Agostino, Lucie Dupuis, Balram Gangaram +19 more

RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.009

N/A

0DataRank · unranked

4 citations

Yang Li, Nandina Paria, Ryan J. Bohlender, Chad Huff, Jill A. Rosenfeld +17 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

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Brain Communications(2023)10.1093/braincomms/fcad222

N/A

0DataRank · unranked

6 citations

Maha S. Zaki, Mohammed Al‐Owain, Mansour Y. Otaif, Adam Jackson, Emanuela Argilli +41 more

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63399

N/A

0DataRank · unranked

4 citations

Alexandrea Wadley, Chun-Hui Tsai, Paul J. Benke, Lisa Emrick, Kristen Fisher +15 more

Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy

medRxiv(2023)10.1101/2023.03.27.23287689

N/A

0DataRank · unranked

3 citations

Sydney L. Michener, Hongling Pan, Jessica M. Pfliger, Jill A. Rosenfeld, Vanesa Lerma +40 more

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

medRxiv(2023)10.1101/2023.10.11.23296741

N/A

0DataRank · unranked

1 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +48 more

AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

NEJM AI(2024)10.1056/aioa2300009

N/A

0DataRank · unranked

45 citations

Chaozhong Liu, Linhua Wang, Rami AI-Ouran, Cole A. Deisseroth, Sasidhar Pasupuleti +18 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

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

MATR3 pathogenic variants differentially impair its cryptic splicing repression function

FEBS Letters(2024)10.1002/1873-3468.14806

N/A

0DataRank · unranked

13 citations

Xiao Xiao Chen, Michelle Dias, Jhune Rizsan Santos, Sukhleen Kour, Justin You +10 more

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.007

N/A

0DataRank · unranked

10 citations

Alice M. Tao, Shenzhao Lu, Mengqi Ma, Shabab B. Hannan, Rachel Slaugh +43 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

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

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma

Investigative Ophthalmology & Visual Science(2024)10.1167/iovs.65.3.25

N/A

0DataRank · unranked

8 citations

Bailey A. Martin‐Giacalone, Xiaonan Zhao, Pamela N. Luna, Brian P. Brooks, Robert B. Hufnagel +6 more

ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101873

N/A

0DataRank · unranked

6 citations

M. Gösgens, Alexander J.M. Dingemans, P. Striano, Antonella Riva, C. Mignot +81 more

Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension

JCI Insight(2024)10.1172/jci.insight.172152

N/A

0DataRank · unranked

4 citations

Edmond Wonkam‐Tingang, Monesha Gupta‐Malhotra, S. Shahrukh Hashmi, Yixing Han, Aarti Jajoo +19 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

Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders

European Journal of Human Genetics(2024)10.1038/s41431-024-01576-0

N/A

0DataRank · unranked

5 citations

Kim Lee Ng, Filippo Pinto e Vairo, James Collins, Ronald D. Cohn, Kacie Riley +6 more

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

N/A

0DataRank · unranked

3 citations

Mythily Ganapathi, Yiming Zheng, Kai-Li Tan, Oguz Kanca, Kevin E. Bove +21 more

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PLoS Genetics(2024)10.1371/journal.pgen.1011443

N/A

0DataRank · unranked

3 citations

Katie L. Brandel-Ankrapp, Edward W. Pietryk, Paul R. Merlau, Priyadharshini Vijayakumar, Emily J Leptich +7 more

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Journal of Medical Genetics(2024)10.1136/jmg-2023-109799

N/A

0DataRank · unranked

2 citations

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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

Recessive loss‐of‐function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine–Lubinsky syndrome

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63845

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Lisa Emrick, Jill A. Rosenfeld, Shamika Ketkar, Lindsay C. Burrage +2 more

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medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

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

Behavioral screening of conserved RNA-binding proteins reveals CEY-1/YBX RNA-binding protein dysfunction leads to impairments in memory and cognition

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.01.05.574402

N/A

0DataRank · unranked

3 citations

Katie L. Brandel-Ankrapp, Paul R. Merlau, Priyadharshini Vijayakumar, Emily J Leptich, Edward W. Pietryk +6 more

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medRxiv(2024)10.1101/2024.02.09.24302464

N/A

0DataRank · unranked

2 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +57 more

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bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.06.578086

N/A

0DataRank · unranked

2 citations

Kristy Jay, Alden Y. Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +23 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

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medRxiv(2024)10.1101/2024.08.15.24312057

N/A

0DataRank · unranked

2 citations

Kristina Macakova, Jefferson Sinson, Hongzheng Dai, Jill A. Rosenfeld, Gladys Zapata +10 more

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medRxiv(2024)10.1101/2024.04.22.24305780

N/A

0DataRank · unranked

1 citations

Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud +14 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

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956

N/A

0DataRank · unranked

0 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

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Molecular Psychiatry(2025)10.1038/s41380-025-03279-4

N/A

0DataRank · unranked

7 citations

Andrea Eoli, Ilona Krey, Bernt Popp, Vincent Strehlow, Dirk Alexander Wittekind +27 more

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

EMBO Molecular Medicine(2025)10.1038/s44321-025-00290-8

N/A

0DataRank · unranked

8 citations

Marisa W. Friederich, Daniella H. Hock, Jessie R. Zhang, Liana Valin, Jill A. Rosenfeld +35 more

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Nature Communications(2025)10.1038/s41467-025-65556-8

N/A

0DataRank · unranked

3 citations

Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray +95 more

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Genetics in Medicine(2025)10.1016/j.gim.2025.101369

N/A

0DataRank · unranked

4 citations

Lindsay C. Burrage, Sharayu Jangam, Jill A. Rosenfeld, Sandra von Hardenberg, Anke K. Bergmann +92 more

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

European Journal of Human Genetics(2025)10.1038/s41431-025-01929-3

N/A

0DataRank · unranked

4 citations

Xiaonan Zhao, Jill A. Rosenfeld, Pamela N. Luna, Chad A. Shaw, Jennifer E. Posey +2 more

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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

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Brain(2025)10.1093/brain/awaf273

N/A

0DataRank · unranked

1 citations

Ny Hoang, Jamie C Stark, Sunny Cui, Emanuela Pannia, Chung Ting Tsoi +36 more

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64242

N/A

0DataRank · unranked

1 citations

Gail E. Graham, Melissa T. Carter, Maria Kibæk, Christina Fagerberg, Martin J. Larsen +38 more

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

medRxiv(2025)10.1101/2025.05.06.25326635

N/A

0DataRank · unranked

2 citations

Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benónísdóttir, Malak Alghamdi +64 more

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medRxiv(2025)10.1101/2025.01.28.25321295

N/A

0DataRank · unranked

1 citations

Jefferson Sinson, Shenglan Li, Jill A. Rosenfeld, Gladys Zapata, Kristina Macakova +16 more

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medRxiv(2025)10.1101/2025.06.25.25330124

N/A

0DataRank · unranked

1 citations

Caspar I. van der Made, Sema Kalkan Uçar, Gayatri Ramakrishnan, Jill A. Rosenfeld, Tiphanie P. Vogel +17 more

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

medRxiv(2025)10.1101/2025.07.08.25330848

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0DataRank · unranked

1 citations

Marisa W. Friederich, Daniella H. Hock, Jessie R. Zhang, Liana Valin, Jill A. Rosenfeld +35 more

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medRxiv(2025)10.1101/2025.01.30.25321185

N/A

0DataRank · unranked

0 citations

Dina Issakova, Barry Slaff, San Jewell, Nicholas F. Lahens, Gregory R. Grant +7 more

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101429

N/A

0DataRank · unranked

0 citations

Laura Mackay, Maria Blazo, Elizabeth Mizerik, Jozef Gécz, Renée Carroll +34 more

Computationally resolved neuroprogenitor cell biomarkers associate with human disorders

Stem Cell Reports(2025)10.1016/j.stemcr.2025.102606

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0DataRank · unranked

0 citations

William T. Choi, Fatih Semerci, Jill A. Rosenfeld, Toni Claire Tacorda, Guantong Qi +7 more

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila

Biochemistry and Biophysics Reports(2025)10.1016/j.bbrep.2025.102375

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0DataRank · unranked

0 citations

Sonja Neuser, Gaurav Shrestha, Netra Prasad Neupane, Katharina J. Götze, Nicola Brunetti‐Pierri +26 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Nature Communications(2025)10.1038/s41467-025-56876-w

N/A

0DataRank · unranked

2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more

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Neuron(2020)10.1016/j.neuron.2020.02.021

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0DataRank · unranked

165 citations

Michael F. Wangler, Paul C. Marcogliese, Ju-Yeon Jo, Thomas A. Ravenscroft, Zhongyuan Zuo +29 more

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Nature Communications(2020)10.1038/s41467-020-18723-y

N/A

0DataRank · unranked

217 citations

Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe +95 more

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The Journal of Experimental Medicine(2020)10.1084/jem.20191804

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0DataRank · unranked

113 citations

Simon J. Tavernier, Yin‐Huai Chen, S. Cindy, Marie Materna, Arian Laurence +55 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

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

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003

N/A

0DataRank · unranked

48 citations

Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia +48 more

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Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1397

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0DataRank · unranked

25 citations

Rebecca C. Spillmann, Jill A. Rosenfeld, Elly Brokamp, Rebecca Signer, Kelly Schoch +17 more

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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

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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

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PLoS Genetics(2020)10.1371/journal.pgen.1009106

N/A

0DataRank · unranked

11 citations

Stefanie Schmitteckert, Julia Volz, Cristina Martínez, Ralph Röth, Thomas Thumberger +29 more

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.001

N/A

0DataRank · unranked

45 citations

Xiao Mao, Hua Wang, Ye-Jin Park, Paul C. Marcogliese, Jill A. Rosenfeld +12 more

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Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12290

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0DataRank · unranked

38 citations

Erik A. Eklund, Sergey A. Shiryaev, Yin Yao Dong, Mary‐Alice Abbott, Carla Asteggiano +48 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

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

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0DataRank · unranked

25 citations

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

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

UNC Libraries(2020)10.17615/acnn-yv48

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0DataRank · unranked

4 citations

Susan K. Sell, Cathy A. Stevens, Deborah Terespolsky, S. Noyce Ryan, Zheng Fan +27 more

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.09.14.297234

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0DataRank · unranked

1 citations

Lindsay C. Burrage, Aurélie Clément, Bernardo Blanco‐Sánchez, Rossella Venditti, Mahim Jain +49 more

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

medRxiv(2020)10.1101/2020.09.10.20190314

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0DataRank · unranked

1 citations

Georgi Stoyanov, Florian Erger, Jill A. Rosenfeld, Erin Torti, Chad Haldeman‐Englert +18 more

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00870-6

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0DataRank · unranked

117 citations

Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo +95 more

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Blood(2021)10.1182/blood.2021011980

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0DataRank · unranked

64 citations

Sushree Sangita Sahoo, Masayoshi Honda, Sophie L. Granger, Charnise Goodings, Louis Sanchez +28 more

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

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

N/A

0DataRank · unranked

49 citations

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

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.017

N/A

0DataRank · unranked

32 citations

Marie Vincent, Alice Mollé, Oluwadamilare A. Adebambo, Cynthia Fourgeux, Tahir Naeem Khan +41 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 variants in SPTBN1 cause intellectual disability and autism

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62201

N/A

0DataRank · unranked

28 citations

Rui Xiao, Mir Reza Bekheirnia, Farah Kanani, Michael Parker, Mary Kay Koenig +17 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

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Genetics in Medicine(2021)10.1016/j.gim.2021.09.005

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0DataRank · unranked

25 citations

Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Natasha L. Rudy +46 more

Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12367

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0DataRank · unranked

21 citations

Bobby G. Ng, Earnest James Paul Daniel, Jennifer Friedman, Enikö K. Pivnick, Amal Alhashem +15 more

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

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

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0DataRank · unranked

16 citations

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

Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4

Human Molecular Genetics(2021)10.1093/hmg/ddab321

N/A

0DataRank · unranked

11 citations

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