Standout Papers
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel (1997)
- Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats (1993)
- doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein (1998)
- A developmental and genetic classification for malformations of cortical development: update 2012 (2012)
- Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia (1998)
- Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians (2016)
- Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome (2002)
- PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation (2014)
- Description of 13 Infants Born During October 2015–January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth — Brazil (2016)
Immediate Impact
26 by Nobel laureates 31 from Science/Nature 65 standout
Citing Papers
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals
2022 StandoutScienceNobel
Works of William B. Dobyns being referenced
A developmental and genetic classification for malformations of cortical development: update 2012
2012 Standout
WDR62 is associated with the spindle pole and is mutated in human microcephaly
2010
Author Peers
| Author | Last Decade | Papers | Cites | |||
|---|---|---|---|---|---|---|
| William B. Dobyns | 9708 | 13292 | 7531 | 339 | 27.1k | |
| Christopher A. Walsh | 7349 | 17259 | 2747 | 267 | 28.3k | |
| David H. Ledbetter | 13154 | 11874 | 4896 | 332 | 23.7k | |
| Uta Francke | 14319 | 23981 | 1967 | 500 | 41.4k | |
| Stylianos E. Antonarakis | 13150 | 22035 | 3052 | 593 | 40.5k | |
| Tom Curran | 6616 | 31870 | 1066 | 275 | 50.5k | |
| Arnold Münnich | 8775 | 26964 | 2024 | 643 | 39.4k | |
| James R. Lupski | 17403 | 20334 | 2466 | 575 | 36.5k | |
| David H. Rowitch | 3923 | 18689 | 1812 | 198 | 30.9k | |
| John L.R. Rubenstein | 11421 | 30686 | 1731 | 343 | 50.8k | |
| Nancy A. Jenkins | 10042 | 35003 | 925 | 508 | 59.9k |
All Works
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