Rolf W. Stottmann

Also affiliated with The Ohio State University

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 19 papers. Top paper: “COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay”.

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

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.014

N/A

0.457DataRank · unranked

20 citations

Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep +40 more

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

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

N/A

0DataRank · unranked

1 citations

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

Dkk1 inhibition normalizes limb phenotypes in a mouse model of Fzd2 associated omodysplasia Robinow syndromes

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.06.02.494481

N/A

0DataRank · unranked

0 citations

Megan N. Michalski, Sanika Vaidya, Elizabeth Bittermann, Erin Finnerty, Chelsea Menke +5 more

Successful therapeutic intervention in new mouse models of frizzled 2-associated congenital malformations

Development(2023)10.1242/dev.201038

N/A

0DataRank · unranked

6 citations

Megan N. Michalski, Sanika Vaidya, Elizabeth Bittermann, Erin Finnerty, Chelsea Menke +5 more

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63130

N/A

0DataRank · unranked

3 citations

Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee +34 more

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

Nature Communications(2024)10.1038/s41467-023-44506-2

N/A

0DataRank · unranked

16 citations

Eva D’haene, Machteld Baetens, Tara N. Yankee, Emma Wentworth Winchester, Nicole Glidden +13 more

Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes

npj Genomic Medicine(2024)10.1038/s41525-024-00454-4

N/A

0DataRank · unranked

12 citations

Maria Elena Hernandez‐Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison C. Daley, Leeran Dublin-Ryan +11 more

Mouse variants in Taf1c result in reduced survival to birth

Developmental Biology(2025)10.1016/j.ydbio.2025.09.011

N/A

0DataRank · unranked

1 citations

Logan Willeke, Rolf W. Stottmann, Jennifer L. Watts

NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly

medRxiv(2025)10.1101/2025.01.16.25320041

N/A

0DataRank · unranked

0 citations

Hanan E. Shamseldin, Nicole Costantino, JES-Rite Michaels, Sarah L. Sawyer, Matthew Osmond +7 more

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100518

N/A

0DataRank · unranked

0 citations

Kurt Reynolds, Steven I. Estes, Daniel K. Nolan, Mari Mori, Daniel C. Koboldt +3 more

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64280

N/A

0DataRank · unranked

0 citations

Allison C. Daley, Emily Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew +4 more

Detection of the Heterozygous Recurrent MAX p.( Arg60Gln ) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics(2025)10.1111/cge.70101

N/A

0DataRank · unranked

0 citations

Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann +5 more

Dmxl1 is required for survival in the mouse to organogenesis stages of development

Differentiation(2025)10.1016/j.diff.2025.100917

N/A

0DataRank · unranked

0 citations

Logan Willeke, Paul P. R. Iyyanar, Rolf W. Stottmann, Andrew M. Vontell

Challenges and opportunities for understanding the genetic causes of congenital anomalies

Developmental Biology(2025)10.1016/j.ydbio.2025.12.001

N/A

0DataRank · unranked

0 citations

Ivan P. Moskowitz, Rolf W. Stottmann, Irene E. Zohn, Mustafa K. Khokha, Janina Kueper

Ttc21b is required for proper proliferation of neural progenitor cells

Disease Models & Mechanisms(2025)10.1242/dmm.052392

N/A

0DataRank · unranked

0 citations

David Paulding, J. Léal, Rebekah Rushforth, Rolf W. Stottmann, Rebekah Niewoehner

CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model

Human Molecular Genetics(2020)10.1093/hmg/ddaa046

N/A

0DataRank · unranked

24 citations

Lauren E. Blizzard, Rolf W. Stottmann, Marshall Lukacs

Cse1l is critical for cell survival, craniofacial and cardiac development

Developmental Biology(2025)10.1016/j.ydbio.2025.12.007

N/A

0DataRank · unranked

0 citations

Rolf W. Stottmann, Paul P. R. Iyyanar

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Disease Models & Mechanisms(2020)10.1242/dmm.045344

N/A

0DataRank · unranked

17 citations

Marshall Lukacs, Sandra Cindrić, Heymut Omran, Rolf W. Stottmann, Zakia Abdelhamed